Search for: "genetic disorders" - 211 articles found

News • Genetic diseases

Study sheds light on causes of rare genetic diseases in 5,500 people

Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K..

News • Novel therapeutic strategy

Chemogenetics for the treatment of challenging epilepsy cases

Scientists from Japan demonstrated, for the first time, a successful chemogenetic suppression of widespread epileptic seizures in macaque monkeys. Their findings represent an essential step towards clinical trials, and effective treatment for patients with severe epilepsy.

Video • Mini-bones from the lab

Toward a personalized approach of bone cancer research and therapy

Researchers generated human mini bones in the lab which mirror the composition and function of human bone - a step toward the development of future patient-tailored models of bone cancers and tumors.

News • Medication and surgery recommendations

Childhood obesity guidelines: the end of 'watchful waiting'

The American Academy of Pediatrics has issued its first comprehensive guideline on the evaluation and treatment of children and adolescents with obesity, marking an end to previous recommendations.

Article • Modelling systems for human biology

Organoid technology: new opportunities for drug discovery

Two-dimensional (2D) cultured cell lines and animal models have been the principal research tools for the past decade, but have several shortcomings. Three-dimensional cell cultures, or organoids, show great promise here.

News • Genome instability

Gene editing via CRISPR/Cas9 can lead to cell toxicity

Researchers identify critical spots on the genome where gene editing could cause an unwanted response, and they provide recommendations for safer approaches.

News • Novel disease therapies

"Soft” CRISPR may offer fix for genetic defects

A new approach makes use of natural DNA repair machinery and provides a foundation for novel gene therapy strategies with the potential to cure a large spectrum of genetic diseases.

News • Not just for bitcoin

Blockchain can secure and store genomes

Blockchain is a digital technology that allows a secure and decentralized record of transactions. Now, researchers leveraged blockchain to give individuals control of their own genomes.

News • Cancer therapy side-effects

Researchers investigate link between chemotherapy and infertility

In order to better prevent and restore fertility and reduce the risk of sterility in cancer survivors, researchers investigate the mechanisms behind negative effects of chemotherapy.

News • Metabolic disorders

Decoding a direct dialog between gut microbiota and brain

Hypothalamic neurons in an animal model directly detect variations in bacterial activity and adapt appetite and body temperature accordingly.

News • Artificial brains

Brain organoids help understand autism

Scientists use miniature brain models to understand how a mutated gene affects brain development.

News • RYR1-associated disorder

New approach to treating severe congenital myopathy

The diagnosis is rare, but devastating – children with congenital muscle disorders often never learn to walk. Now, researchers from Basel present a possible therapeutic approach for the first time.

News • Genetic dystrophy repair

Using mRNA to improve muscle strength

An ECRC research team has introduced CRISPR-Cas9 into human muscle stem cells for the first time using mRNA, thus discovering a method suitable for therapeutic applications.

News • From decades to days

Single test for over 50 genetic diseases cuts diagnosis

A DNA test has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

News • Brain study

Diagnosing neurological diseases before symptoms occur

Cleveland Clinic has launched a landmark study to better understand why millions of people around the world suffer from brain diseases, with the goal of pinpointing disease biomarkers early, well before clinical symptoms present themselves.

News • Fibrodysplasia ossificans progressiva

FOP: Origin of rare disease

A mutation in the gene that causes fibrodysplasia ossificans progressiva (FOP) doesn’t just cause extra bone growth but is tied to a problem in generating new muscle tissue after injury.

News • Sex differences

Cardiovascular risks may be worse for women’s cognition

New study results show that though men are more likely to have heart conditions, the impact on their memory and thinking skills is lower.

News • Chemotherapy approach

New receptor insights might leave cancer bitter

Bitter taste receptors do not only support humans in tasting. They are also found on cancer cells. A team led by Veronika Somoza from the Faculty of Chemistry at the University of Vienna and the German Leibniz Institute for Food Systems Biology at the Technical University of Munich has investigated the role they play there. For this purpose, the scientists compiled and evaluated extensive…

News • DNA analysis

Should all babies have their genome sequenced at birth?

Genomics England, a government owned company, recently announced a pilot programme of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns. But should every newborn baby have their whole genome sequenced? Experts debate the issue in The BMJ. Extensive clinical evidence has shown that screening for genetic diseases saves lives, and research has shown that it…

News • Whole genome sequencing

Rare disease diagnosis: the huge impact of WGS

Whole genome sequencing (WGS) from a single blood test picks up 31% more cases of rare genetic disorders than standard tests, shortening the ‘diagnostic odyssey’ that affected families experience, and providing huge opportunities for future research.

News • Research

Covid-19 infection increases risk for preeclampsia

A study found that women who contract Covid-19 during pregnancy are at significantly higher risk of developing pre-eclampsia. In their study, researchers said their systematic review shows that women with SARS-CoV-2 infection during pregnancy had 62% higher odds of developing preeclampsia than those without the infection during pregnancy.

News • Prevention of toxic DNA lesions

Promising mechanism to stop Huntington's progression

A new mechanism that stops the progression of Huntington’s disease in cells has been identified by scientists at the University of Cambridge and University College London (UCL), as part of their research groups at the UK Dementia Research Institute. Researchers say the breakthrough study, published in Cell Reports, could lead to much needed therapies for the rare genetic disease, which is…

News • Unprecedented improvements

Gene therapy 'reprograms' cells to reverse AADC deficiency

A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. The study, led by researchers at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine, offers new hope to those living with incurable genetic and neurodegenerative diseases.

News • Sonothermogenetics

Tool activates deep brain neurons by combining ultrasound, genetics

Neurological disorders such as Parkinson’s disease and epilepsy have had some treatment success with deep brain stimulation, but those require surgical device implantation. A multidisciplinary team at Washington University in St. Louis has developed a new brain stimulation technique using focused ultrasound that is able to turn specific types of neurons in the brain on and off and precisely…

News • Neuroscience

Potential new approach for epilepsy control

Researchers from Case Western Reserve University have identified a potential new approach to better controlling epilepsy. Lin Mei, professor and chair of the Department of Neurosciences at Case Western Reserve School of Medicine, who led the new study in mouse models, said the team found a new chemical reaction that could help control epileptic seizures.

Article • dPCR and HSAFM

Low-cost technique for missed genetic mutations

A new low-cost method targeting genetic mutations often missed by existing diagnostic approaches has been developed. Researchers at Virginia Commonwealth University (VCU) in the United States noted that most rearrangement mutations implicated in cancer and neurological diseases fall between what can be detected by DNA sequence reads and optical microscopy methods. The new technique combines…

Article • Post-hospitalisation

New study reveals impact of 'Long Covid'

Recovery duration, co-morbidities, mortality, risk groups: A large UK study reports in detail on 'Long Covid'. We spoke with two of the study's co-investigators about why so many patients are still affected after a coronavirus infection.

News • Tiny changes, huge effects

Finding causes of disease with induced pluripotent stem cells

Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex and also rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory (EMBL), together with international partners, have studied genotype-phenotype relationships in iPSCs using data from approximately one thousand donors. Tens of…

News • 53,831 genomes analysed

Rare diseases: huge dataset brings new insights

Researchers at the University of Maryland School of Medicine (UMSOM) and their colleagues published a new analysis from genetic sequencing data of more than 53,000 individuals, primarily from minority populations. The early analysis, part of a large-scale program funded by the National Heart, Lung, and Blood Institute, examines one of the largest and most diverse data sets of high-quality whole…

News • Prevention

High blood pressure causes atrial fibrillation

The first evidence from genetic data that high blood pressure is causally associated with the most common heart rhythm disorder is published in the European Journal of Preventive Cardiology, a journal of the European Society of Cardiology (ESC).

News • The role of the MLL4 gene

New insights on the Kabuki syndrome

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. How exactly this happens remeained a mystery for long. Now, a new study illuminates new details. The research suggests that MLL4 controls the production of neurons that secrete growth hormone-releasing hormone (GHRH) in a part of the brain called the hypothalamus. Mice without…

News • New gargle test

Mass spectrometry to improve Covid testing

A UK biotech laboratory has used mass spectrometry in a new approach to coronavirus testing. MAP Sciences developed a gargle test, which collects samples from the back of the throat, and avoids the unpleasant sensation of the current PCR (polymerase chain reaction) swab tests. From there, the sample is tested for coronavirus using mass spectrometry (MS) with high levels of accuracy.

News • Mechanisms identified

Fanconi anaemia: Researchers find reason for bone marrow failure

Researchers at the University of Helsinki and the Dana-Farber Cancer Institute have identified the mechanism behind bone marrow failure developing in children that suffer from Fanconi anaemia. The findings will help to develop new therapies for the disorder.

Video • List by top clinicians and researchers

Top 10 medical innovations for 2021

An up-and-coming gene therapy for blood disorders. A new class of medications for cystic fibrosis. Increased access to telemedicine. These are some of the innovations that will enhance healing and change healthcare in the coming year, according to a distinguished panel of clinicians and researchers from Cleveland Clinic. In conjunction with the 2020 Medical Innovation Summit, Cleveland Clinic…

Article • Overheard at AAIC 2020

Exciting Alzheimer's findings: ’flu vaccines and P-tau217

More than 32,000 people from over 160 countries registered for The Alzheimer’s Association International Conference (AAIC 2020) in July. This largest and most influential international conference on dementia science had to be held virtually this year, when important highlights were aired. The ability to identify individuals at high risk of developing Alzheimer’s Disease (AD), or at early…

News • Origins of the disease(s) explained

Parkinson's: not one, but two diseases?

Although the name may suggest otherwise, Parkinson's disease is not one but two diseases, starting either in the brain or in the intestines. Which explains why patients with Parkinson’s describe widely differing symptoms, and points towards personalised medicine as the way forward for people with Parkinson's disease. This is the conclusion of a study which has just been published in the leading…

News • Coronavirus

“Hotspots” of a corona infection in the human body

An infection with the coronavirus SARS-CoV-2 can affect multiple organs. With this in mind, researchers of the German Center for Neurodegenerative Diseases (DZNE) and Cornell University in the US have investigated cellular factors that could be significant for an infection. To this end, they analysed the activity of 28 specific genes in a wide range of human tissues.

News • Neuronal disorder

Tracking the onset of ataxias

“Spinocerebellar ataxias” are diseases of the nervous system associated with a loss of motor coordination. A European research alliance headed by the German Center for Neurodegenerative Diseases (DZNE) and the University of Bonn has now registered whether and how symptoms of ataxia developed over the years in around 250 persons at risk, who initially did not show symptoms. This is the first…

News • New tool discovered

Gut microbiome: Crohn’s disease bacteria grown in the lab

Several thousand strains of bacteria live in the human gut. Some of these are associated with disease, while others have beneficial effects on human health. Figuring out the precise role of each of these bacteria can be difficult, because many of them can’t be grown in lab studies using human tissue. This difficulty is especially pronounced for species that cannot live in oxygen-rich…

News • Hidden in our genes

scHOT: Discovering the fate of cell development

As cells develop, changes in how our genes interact determines their fate. Differences in these genetic interactions can make our cells robust to infection from viruses or make it possible for our immune cells to kill cancerous ones. Understanding how these gene associations work across the development of human tissue and organs is important for the creation of medical treatments for complex…

News • Neuro-Imaging

Advanced MRI scans may improve treatment of Parkinson's disease

Recently developed MRI techniques used to more precisely target a small area in the brain linked to Parkinson's disease and essential tremor may lead to better outcomes without surgery and with less risk of negative effects, a new study led by UT Southwestern researchers suggests.

News • Neurodegeneration

Alzheimer research: Noise-inducing neurons shut down memories

Neurons that are responsible for new experiences interfere with the signals of neurons that contain memories and thereby disturb the recall of memories – at least in mice. The research group of Martin Fuhrmann of the German Center for Neurodegenerative Diseases (DZNE) reports this phenomenon in the scientific journal “Nature Neuroscience“. The results of this study potentially shed new…

News • New mechanism discovered

UPR: Stress raises cancer cells' chemo resistance

Resistance of cancer cells against therapeutic agents is a major cause of treatment failure, especially in recurrent diseases. An international team around the biochemists Robert Ahrends from the University of Vienna and Jan Medenbach from the University of Regensburg identified a novel mechanism of chemoresistance which has now been published in "Nature Communications". It is driven by…

News • Experts express concerns

EDQM Blood Guide could make Europe more dependent on US plasma

The Plasma Protein Therapeutics Association (PPTA) is concerned about the recommendations contained in 20th version of Blood Guide of The European Directorate for the Quality of Medicines (EDQM) which aims to harmonise standards and recommendations on blood collection, preparation, and the use of blood and blood components. This Guide, if applied, will have a negative impact on the availability…

News • Optical coherence tomography

Retinal texture could provide early biomarker of Alzheimer's disease

New imaging technique combines two technologies to spot early warning signs of Alzehimer's disease in mice.

News • A look at oligodendrocytes

Parkinson’s disease may start in the gut

Researchers at Karolinska Institutet and the University of North Carolina have mapped out the cell types behind various brain disorders. The findings are published in Nature Genetics and offer a roadmap for the development of new therapies to target neurological and psychiatric disorders.

News • Intestinal bacteria reprogram DNA activity

The uncanny influence of our gut flora

Scientists from the German Cancer Research Center (DKFZ) and the Hebrew University in Jerusalem demonstrated in mice that intestinal bacteria reprogram DNA activity in cells of the gut mucosa and thus have a considerable impact on the development of the healthy gut.

News • Surprising discovery

Fatty liver disease can also affect lean people

Non-alcoholic fatty liver disease (NAFLD) is mostly diagnosed in overweight and obese people. However, severe forms of NAFLD can also be detected in rare genetic diseases such as lipodystrophy or in patients with HIV, putting them at a high risk for developing liver failure, diabetes and cardiovascular diseases. Norbert Stefan and colleagues have now detected a yet unknown cause of NAFLD in lean…

News • Non-alcoholic fatty liver disease

3D model of human liver tissue for better NAFLD diagnosis

Non-alcoholic fatty liver disease (NAFLD) is becoming the most common chronic liver disorder in developed countries. Histological analysis of liver tissue is the only widely accepted test for diagnosing and distinguishing different stages of NAFLD. However, this technique provides only two-dimensional images of the liver tissue in low resolution and overlooks potentially important 3D structural…

News • Parkinson’s diseases

Better biosensor technology created for stem cells

Researchers have created better biosensor technology that may help lead to safe stem cell therapies for treating Alzheimer’s and Parkinson’s diseases and other neurological disorders.

News • Biological aging

Wearables link insufficient sleep to cardiovascular disease risk

Getting a good night’s sleep is important and insufficient sleep has been linked to poor health in many studies. Analysing data collected from wearable trackers, researchers from the SingHealth Duke-NUS Institute of Precision Medicine (PRISM) and the National Heart Centre Singapore (NHCS) recently demonstrated that chronic sleep deprivation is associated with increased cardiovascular disease…

News • Promising preclinical study results

Epilepsy: Gene therapy shows long-term suppression of seizures

Teams of researchers from Charité – Universitätsmedizin Berlin and the Medical University of Innsbruck have developed a new therapeutic concept for the treatment of temporal lobe epilepsy. It represents a gene therapy capable of suppressing seizures at their site of origin on demand. Having been shown to be effective in an animal model, the new method will now be optimized for clinical use.…

News • Inherited neuromuscular disease HSP

Genetic cause for hereditary spastic paraplegia identified

Scientists at St George’s, University of London, in collaboration with researchers from Germany, the USA, Tunisia and Iran have identified a new gene associated with the neuromuscular disorder, hereditary spastic paraplegia (HSP). The study, published in Nature Communications, also highlights a potential mechanism for the disease, which is already being targeted in drug trials for Alzheimer’s…

News • Dangerous fever

Febrile convulsions: an early indicator for epilepsy in children?

Children who suffer repeated febrile convulsions have an increased risk of developing epilepsy and psychiatric disorders such as schizophrenia and depression later in life. This is shown by a comprehensive register-based study from Aarhus University. The risk of febrile convulsions increases with the child’s fever, and approximately four per cent of Danish children suffer from febrile…

News • Neurology

Overcoming the blood-brain-barrier: Delivering therapeutics to brain

For the first time, scientists have found a way that can effectively transport medication into the brain - which could lead to improved treatments for neurological and neurodegenerative diseases. In a study, scientists from Newcastle University have led an international team in a major breakthrough in unlocking the secrets of how medications can infiltrate the brain.

News • Vascular surgery

New lease of life thanks to new aorta

Patients with the rare Loeys-Dietz syndrome suffer from aortic enlargement which may result in sudden over-expansion and a fatal aortic tear. In order to prevent this from happening, an aortic prosthesis must be implanted. A team of vascular surgeons at the University Hospital of Zurich was one of the first in the world to risk undertaking this life-saving operation on a child as an emergency…

News • CRISPR-Cas vs MDC1A

Undoing the damage of muscle dystrophy

A new technology has brought researchers one step closer to a future cure for Congenital Muscular Dystrophy type1A, a devastating muscle disease that affects children. The new findings are based on research by Kinga Gawlik at Lund University, Department of Experimental Medical Science, and were recently published in Nature. Congenital Muscular Dystrophy type1A, MDC1A, a progressive genetic…

News • Alternative ways

Plan B for cholesterol transport

Kiel biochemistry research team proves the existence of a previously unknown alternative cholesterol transport mechanism inside cells. Cholesterol is a vital cell building block in humans and animals, and an integral part of the so-called cell membrane. This boundary layer separates the interior of the cell from the neighbouring cells and the surrounding environment. By means of certain proteins,…

News • Gene editing

Taking CRISPR one step further

Researchers at ETH Zurich have refined the famous CRISPR-Cas method. Now, for the very first time, it is possible to modify dozens, if not hundreds, of genes in a cell simultaneously. The biotechnological method CRISPR-Cas offers a relatively quick and easy way to manipulate single genes in cells, meaning they can be precisely deleted, replaced or modified. Furthermore, in recent years,…

News • Fixed DNA Molecule Array

World’s fastest DNA testing method created

A group of scientists from Vilnius University have developed the world’s fastest DNA testing method, reducing DNA testing costs by 90%. It identifies changes in chromosomes, genes, or proteins to determine a genetic condition or eliminate the chance of the formation or passing on of a gene-based disorder amongst humans and animals. At present, the sole method of genetic testing is the DNA…

News • Mental health

Does autism increase risk of suicidal behaviour?

The risk of suicide attempts and suicides among individuals with autism spectrum disorders is significantly higher than among the population in general. An especially high risk of suicidal behaviour is noted among women who in addition to autism also have ADHD. These are the findings of a population-based study from Karolinska Institutet in Sweden published in the journal Psychological Medicine.…

News • In future pregnancies

Identifying the risk of recurrence of developmental disorder

Having a child with a developmental disorder can cause parents to worry about the outcome of further pregnancies. In cases where the genetic mutation causing the disorder is not present in either parent it is assumed to be a one-off event with a very small chance of recurrence. But in some families, the risk of having another affected child is as high as 50%. Identifying such high-risk families…

News • CRISPR

New genetic weapons challenge sickle cell disease

Help for patients with sickle cell disease may soon come from gene editing to fix the mutation that causes the disease and boost the patient's own protective fetal hemoglobin.

News • CRISPR

Could gold be the key to making gene therapy for HIV?

A proof-of-principle study shows that gold nanoparticles loaded with CRISPR and other gene-editing tools safely and effectively edited blood stem cells.

News • Dementia pathway

Is LATE the new Alzheimer’s?

A recently recognized brain disorder that mimics clinical features of Alzheimer’s disease has for the first time been defined with recommended diagnostic criteria and other guidelines for advancing and catalyzing future research. Scientists from several National Institutes of Health-funded institutions, in collaboration with international peers, described the newly-named pathway to dementia,…

Video • Personalized treatment

Genome analytics become affordable for daily hospital use

Today, on the occasion of the international DNA day, imec, a world-leading research and innovation hub in nanoelectronics and digital technologies, and its partners revealed their Genome Analytics Platform (GAP) platform, a unique platform that can perform a full genome analysis of 48 samples in only 48 hours and at an acceptable cost. The platform paves the way to genome sequencing as a daily…

News • Antisocial behaviour

How the brain of children with conduct disorder is different

Behavioural problems in young people with severe antisocial behaviour – known as conduct disorder – could be caused by differences in the brain’s wiring that link the brain’s emotional centres together, according to new research led by the University of Birmingham. Conduct disorder affects around 1 in 20 children and teenagers and is one of the most common reasons for referral to child…

Article • Post-analytical interpretive tools

Towards a clearer view of complex lab results

Interpretation of complex profiles of laboratory results can be significantly improved via multivariate pattern recognition software. A multivariate pattern recognition software, developed by a team led by Dr Piero Rinaldo at Mayo Clinic in Rochester, USA, aims to integrate results to diagnose a particular condition in a single score, in an objective evidence-based way that is open to worldwide…

News • Personalized medicine

FDA approves first targeted therapy for metastatic bladder cancer

The U.S. Food and Drug Administration (FDA) granted accelerated approval to Balversa (erdafitinib), a treatment for adult patients with locally advanced or metastatic bladder cancer that has a type of susceptible genetic alteration known as FGFR3 or FGFR2, and that has progressed during or following prior platinum-containing chemotherapy. Patients should be selected for therapy with Balversa…

News • Building a risk profile

Audiologists seek genetic link to tinnitus

Tinnitus, more commonly known as ringing in the ears, is a serious audiological and neurological condition affecting nearly 50 million Americans. Noise and music exposure are the predominant environmental risk factors for tinnitus. There is no known cure, and there are no FDA-approved medications developed specifically to treat it. The fact is, tinnitus is very common but not well understood. A…

News • Virology

Trapping viruses inside a cell: harmful or helpful?

Viruses are often used as vehicles for delivery in gene therapy because they’re engineered not to damage the cell once they get there, but neglecting to consider how the virus will exit the cell could have consequences. Some viruses use a molecule called heparan sulfate to help them attach to cells. The molecule, found in many different kinds of cells (including those from animal tissue), could…

News • Hope for diabetics

Insulin-producing cells grown in lab

UC San Francisco researchers have for the first time transformed human stem cells into mature insulin-producing cells, a major breakthrough in the effort to develop a cure for type 1 (T1) diabetes. Replacing these cells, which are lost in patients with T1 diabetes, has long been a dream of regenerative medicine, but until now scientists had not been able to figure out how to produce cells in a…

News • Ornithine Transcarbamylase deficiency

OTC deficiency: First patient benefits from gene therapy trial

A patient at the Queen Elizabeth Hospital Birmingham (QEHB) was the first person in the world to take part in a pioneering gene therapy trial for Ornithine Transcarbamylase (OTC) deficiency, a rare disease that causes toxic levels of ammonia to build up in the blood. Simon Smith, 45, was diagnosed with OTC deficiency as a teenager. Although he defied medical expectations by living a full life in…

News • Keeping a clear head

Alzheimer's: key to early prediction in the blood

Alzheimer's disease is often marked by a creeping progression: Years before symptoms of Alzheimer’s disease manifest, the brain starts changing and neurons are slowly degraded. Scientists at the German Center for Neurodegenerative Diseases (DZNE), the Hertie Institute for Clinical Brain Research (HIH) and the University Hospital Tübingen now show that a protein found in the blood can be used…

News • Choline

Essential nutrient holds promise against Alzheimer’s

In a new study, researchers at the Biodesign Institute explore a safe and simple treatment for one of the most devastating and perplexing afflictions: Alzheimer’s disease (AD). Lead authors Ramon Velazquez and Salvatore Oddo, along with their colleagues in the Arizona State University (ASU)-Banner Neurodegenerative Disease Research Center (NDRC), investigate the effects of choline, an important…

News • Cancer research

Seeking a vaccine to prevent lethal pneumonia

Mariette Barbier, an assistant professor in the West Virginia University School of Medicine, and her research team are investigating ways to keep cystic fibrosis patients and other at-risk populations—including patients hospitalized for severe burns or recovering from major surgery—from catching this deadly illness.

News • Blood pressure

How does the baroreceptor reflex work?

The baroreceptor reflex is a fascinating medical phenomenon. The reflex is controlled by specialized neurons that react in just a fraction of a second to keep blood pressure fairly consistent. For example, when you stand up, your blood pressure normally drops—rapidly. Yet you don't faint thanks to baroreceptors, which tell your heart rate to increase and push more blood to your brain. A new…

Article • Cancer management

The enormous potential of liquid biopsy

It is non-invasive, delivers a chance of early diagnosis, prognostic information and sequential monitoring, and, believes Professor Francesco Salvatore, the enormous potential of liquid biopsies has still to be reached. However, the positive results obtained so far have ‘opened the door to a promising new multi-faceted group of tumour markers, at present collectively designated “liquid…

News • It's all connected

Understanding the "wiring diagrams" of genes in complex tissues

How is the activity of all genes in cells of higher organisms interconnected? And how are the genetic "wiring diagrams" of the cells in complex tissues coordinated with each other? Scientists from the German Cancer Research Center (DKFZ), the European Molecular Biology Laboratory and the University of Heidelberg are now planning to investigate this in two model organisms, Drosophila and…

News • Solving a medical mystery

Cause of rare type of dwarfism discovered

Scientists have uncovered the cause of Saul-Wilson syndrome: A single, spontaneous gene change alters protein packaging in the cell’s Golgi complex, causing the disease.

News • Research

Growing a human esophagus in the lab

Scientists working to bioengineer the entire human gastrointestinal system in a laboratory now report using pluripotent stem cells to grow human esophageal organoids.

News • Myelodysplastic syndrome

Genetic testing helps predict disease recurrence

A DNA-based analysis of blood cells soon after a stem cell transplant can predict likelihood of disease recurrence in patients with myelodysplastic syndrome (MDS), a group of cancerous disorders characterized by dysfunctional blood cells. Such a practice could help doctors identify patients at high risk of disease recurrence early after a transplant and help guide treatment decisions.

News • Neural development

Why our brains fold the way they do

Everyone knows what our brains look like – but why is it folded up like that? Looking at other species reveals much less folding or even none at all. Scientists in Dresden, Germany, have now taken a closer look at the ridges and grooves of human brains. They discovered what causes our brains to fold – and what happens when the folding process goes wrong.

News • Genome-editing

New platform could be the next generation of genetic medicine

A scientist has discovered a gene-editing technology that could efficiently and accurately correct the genetic defects that underlie certain diseases, positioning the new tool as the basis for the next generation of genetic therapies.

News • Single nucleotide polymorphism

Biosensor chip detects genetic mutation with higher sensitivity

A team led by the University of California San Diego has developed a chip that can detect a type of genetic mutation known as a single nucleotide polymorphism (SNP) and send the results in real time to a smartphone, computer, or other electronic device. The chip is at least 1,000 times more sensitive at detecting an SNP than current technology. The advance could lead to cheaper, faster and…

News • Research

Gene discovery unlocks mysteries of our immunity

Australia's national science agency CSIRO has identified a new gene that plays a critical role in regulating the body's immune response to infection and disease.

News • Epilepsy

FDA approves first drug derived from marijuana

FDA approves first drug comprised of an active ingredient derived from marijuana to treat rare, severe forms of epilepsy.

News • Faster diagnosis, reduced cost

The impact of whole genome sequencing on newborn babys in ICU

Early whole genome sequencing might bring hope for children who are born severely ill or who develop serious illness in the first few weeks of their life. Because these children are often difficult to diagnose, detection of diseases has considerable implications for their short and longer-term care. At the annual conference of the European Society of Human Genetics (ESHG) in Milan, Italy, the…

News • Surgical implant for damaged eyes

FDA approves first artificial iris

The U.S. Food and Drug Administration approved the first stand-alone prosthetic iris in the United States, a surgically implanted device to treat adults and children whose iris is completely missing or damaged due to a congenital condition called aniridia or other damage to the eye. The iris is made of thin, foldable medical-grade silicone and is custom-sized and colored for each individual…

News • Astrozytes

The brain’s “rising stars”: New options against Alzheimer’s?

A study by scientists of the German Center for Neurodegenerative Diseases (DZNE) points to a novel potential approach against Alzheimer’s disease. In studies in mice, the researchers were able to show that blocking a particular receptor located on astrocytes normalized brain function and improved memory performance. Astrocytes are star-shaped, non-neuronal cells involved in the regulation of…

News • Infection

‘Mono’ virus linked to seven serious diseases

A far-reaching study conducted by scientists at Cincinnati Children’s reports that the Epstein-Barr virus (EBV)—best known for causing mononucleosis—also increases the risks for some people of developing seven other major diseases.

News • Matrix-forming proteins

Experimental targeted therapy might prevent heart failure

Scientists used an experimental targeted molecular therapy to block a matrix-forming protein in heart cells damaged by heart attack, reducing levels of scarred muscle tissue and saving mouse models from heart failure. Researchers at the Cincinnati Children’s Heart Institute report in the journal Circulation testing a manufactured peptide called pUR4 to block the fibronectin protein in human…

News • DNA research

Stroke: largest-ever genetic study provides new insight

An international research group, including scientists at the University of Maryland School of Medicine, studying 520,000 people from around the world has identified 22 new genetic risk factors for stroke, tripling the number of gene regions known to affect stroke risk. The results show that stroke shares genetic influences with other vascular conditions, especially blood pressure, but also…

News • Triggering inflammatory reactions

Parkinson’s gene initiates disease outside of the brain

Until very recently, Parkinson’s had been thought a disease that starts in the brain, destroying motion centers and resulting in tremors and loss of movement. New research published this week, shows the most common Parkinson’s gene mutation may change how immune cells react to generic infections like colds, which in turn trigger the inflammatory reaction in the brain that causes…

News • Power of the heart

Gene therapy can make the heart stop atrial fibrillation itself

The heart is capable of terminating arrhythmias itself after local gene therapy, potentially avoiding the need for patients to undergo painful electric shocks, according to a proof-of-concept study presented today at EHRA 2018, a European Society of Cardiology congress. Atrial fibrillation is the most common heart rhythm disorder (arrhythmia). Treatment aims to restore the heart’s normal rhythm…

News • Award

DZNE researcher receives world’s top Brain Prize

Together with three other neuroscientists Professor Christian Haass, speaker of the German Center for Neurodegenerative Diseases (DZNE) Munich site and Professor at the Ludwig-Maximilians-University of Munich, receives the world’s most valuable prize for brain research. The 2018 Brain Prize, awarded by the Lundbeck Foundation in Denmark, is worth one million Euros. Awarded annually, it…

Article • AEC syndrome

Cause of severe genetic disease identified

Mutations in the p63 protein lead to a number of disorders, but none is as severe as the AEC syndrome. Scientists at Goethe University Frankfurt in collaboration with a research group from the University of Naples Federico II have now discovered that this syndrome resembles diseases such as Alzheimer’s, Parkinson’s or ALS more closely than it does other p63-based syndromes. Their results,…

News • Neurogenesis

These genetic ‘switches’ determine our brain development

UCLA researchers have developed the first map of gene regulation in human neurogenesis, the process by which neural stem cells turn into brain cells and the cerebral cortex expands in size. The scientists identified factors that govern the growth of our brains and, in some cases, set the stage for several brain disorders that appear later in life. The human brain differs from that of mice and…

News • Nomen est omen?

Sleeping sickness – more than just a sleeping disorder

Sleeping sickness could use a more encompassing moniker. An international study from the O’Donnell Brain Institute shows one of Africa’s most lethal diseases is actually a circadian rhythm disorder caused by the acceleration of biological clocks controlling a range of vital functions besides sleep. By understanding which clock genes are affected by the parasitic disease, scientists hope the…

News • Genome editing

CRISPR treatment may prevent hearing loss

Using molecular scissors wrapped in a greasy delivery package, researchers have disrupted a gene variant that leads to deafness in mice. A single treatment involving injection of a genome editing cocktail prevented progressive hearing loss in young animals that would have otherwise gone deaf, Howard Hughes Medical Institute (HHMI) Investigator David Liu and colleagues report in the journal…

News • Clinical value

Kidney disease diagnosis made easier through DNA sequencing

DNA sequencing could soon become part of the routine diagnostic workup for patients with chronic kidney disease, suggests a new study from Columbia University Medical Center. The researchers found that DNA sequencing could identify the genetic cause of the disease and influence treatment for many patients with chronic kidney disease.

News • Regeneration

Immune cells help rebuild damaged nerves

Immune cells are normally associated with fighting infection but in a new study, scientists have discovered how they also help the nervous system clear debris, making way for nerve regeneration after injury. In a study published in the Journal of Neuroscience, researchers from Case Western Reserve University School of Medicine showed certain immune cells—neutrophils—can clean up nerve debris,…

News • Californian study

Exposure to glyphosate increased over 23 years

Analyzing samples from a prospective study, University of California San Diego School of Medicine researchers found that human exposure to glyphosate, a chemical widely found in weed killers, has increased approximately 500 percent since the introduction of genetically modified crops.“The data compares excretion levels of glyphosate and its metabolite aminomethylphosphonic acid in the human…

News • Mortality decrease

Newborns with trisomy 13 or 18 benefit from heart surgery

Heart surgery significantly decreases in-hospital mortality among infants with either of two genetic disorders that cause severe physical and intellectual disabilities, according to a new study by a researcher at the Stanford University School of Medicine and his colleagues at the University of Arkansas for Medical Sciences. Trisomy 13 and 18, which result from having extra chromosomes, often…

Article • DNA modification

CRISPR/Cas9 and Sherlock: Savers, healers or threats to life?

Modifying a DNA sequence to alter a cell to cure a disorder, prevent a genetic disease being passed on to next generations, or to use genetic modification as a way to diagnose a virus: yes, these tasks are possible. The recently discovered CRISPR technique can do it all.

News • Recommendations

First European advice on deep vein thrombosis

The first comprehensive European advice on deep vein thrombosis is published in the current issue of European Heart Journal. The recommendations were produced by the European Society of Cardiology (ESC) Working Group on Aorta and Peripheral Vascular Diseases and Working Group on Pulmonary Circulation and Right Ventricular Function.

News • Circulation

Can height increase risk for blood clots in veins?

The taller you are, the more likely you may be to develop blood clots in the veins, according to new research in the American Heart Association journal Circulation: Cardiovascular Genetics.

News • Cell biology

Improved stem cell transplantation may be on the horizon

Researchers in Germany have demonstrated that hematopoietic stem cell (HSC) transplants can be improved by treatments that temporarily prevent the stem cells from dying.

News • Vocalization

Speech impediment? The nucleus might be to blame

A genetic study identifies neuronal circuits responsible for ultrasonic calls uttered by mouse pups. The cries of human babies may well depend on similar connections, which could also be impaired in speech disorders.

News • Rare disorder

Possible treatment for child dementia discovered

Although dementia is most often seen in adults, childhood or adolescent dementia does occur. A team of researchers from the University of Würzburg believes that established therapeutic drugs might be effective against childhood dementia.

News • Antioxidant study

How strawberries may prevent Alzheimer's

A natural compound in strawberries could help treat age-related mental decline and conditions like Alzheimer’s, a new study found.

News • Behavioral study

New understanding for autism through eye tracking

New research has uncovered compelling evidence that genetics plays a major role in how children look at the world and whether they have a preference for gazing at people’s eyes and faces or at objects. The discovery by researchers at Washington University School of Medicine in St. Louis and Emory University School of Medicine in Atlanta adds new detail to understanding the causes of autism…

News • Emotional disorders

The key to depression may lie in our genes

Researchers have taken an in-depth look at the function of a gene that may be linked to the development of major depression. Their findings show that its activity levels might determine our susceptibility to stress and negative stimuli.

Drug for Parkinson's not likely to cause melanoma

People with the movement disorder Parkinson’s disease have a much higher risk of the skin cancer melanoma, and vice versa, a Mayo Clinic study finds. Yet the results of the study argue against the Parkinson's drug levodopa as the cause.

News • Nutrigenomics

Healthy diet? That depends on your genes

A recently published Cornell University study describes how shifts in the diets of Europeans after the introduction of farming 10,000 years ago led to genetic adaptations that favored the dietary trends of the time.

Article • Disease Research

Falsified genetic pathways may explain poor results

Spanish researchers are challenging the validity of many past and ongoing clinical trials and stress the importance of working with raw or preprocessed data in genetic information study.

News • Autism

Big Data techniques find biomarkers for Autism Spectrum Disorder (ASD)

An algorithm based on levels of metabolites found in a blood sample can accurately predict whether a child is on the Autism spectrum of disorder (ASD), based upon a recent study. The algorithm, developed by researchers at Rensselaer Polytechnic Institute, is the first physiological test for autism and opens the door to earlier diagnosis and potential future development of therapeutics.

News • Gene Mutation

Researchers identify cause of hereditary skeletal muscle disorder

An international research team from the University Hospital of Munich (LMU), Newcastle University and the University of Liverpool has identified a gene mutation that causes a hereditary skeletal muscle disorder. The study is published in the "American Journal of Human Genetics".

News • Alzheimer's

Concussion linked to brain changes in people at genetic risk for Alzheimer's

Moderate-to-severe traumatic brain injury is a known risk factor for diseases that gradually destroy the brain - such as late-onset Alzheimer's disease. Now, a new study links mild traumatic brain injury, or concussion, in people at genetic risk for Alzheimer's to accelerated brain deterioration and mental decline associated with the disease.

Article • Parsimony in genetic data study

Simplifying what is complex

Genetics stepping ahead as Spain-based researchers develop biomedical robots that can help in the study of rare diseases, neurodegenerative disorders and cancer, as well as the creation of orphan drugs.

Interview • Neurological diseases

No case for a psychiatrist’s couch

Up to ten years ago only a handful of antibodies that could be detected in the blood were known to neurology.

Scientists tissue-engineer part of human stomach

Researchers at Cincinnati Children’s Hospital Medical Center grew functional stomach and intestinal tissues to study diseases and new drugs. They use pluripotent stem cells to generate human stomach tissues in a petri dish that produce acid and digestive enzymes.

News • Neurodegenerative diseases

Brain cell ‘executioner’ identified

Despite their different triggers, the same molecular chain of events appears to be responsible for brain cell death from strokes, injuries and even such neurodegenerative diseases as Alzheimer's. Now, researchers at Johns Hopkins say they have pinpointed the protein at the end of that chain of events, one that delivers the fatal strike by carving up a cell's DNA. The find, they say, potentially…

News • Research

New Biomarker for cancer immunotherapy?

The Ligand PD-L1 is one of the most important targets for cancer immunotherapy with checkpoint inhibitors. But not all tumors have sufficient quantities of PD-L1 ligands on their surface. Scientists from the German Cancer Consortium (DKTK) have now shown that different types of cancer possess different quantities of PD-L1-Gen copies. Genetic analysis of the PD-L1 gene may in the future help to…

News • Freaky new role

Immune system controls social interaction

In a startling discovery that raises fundamental questions about human behavior, researchers at the University of Virginia School of Medicine have determined that the immune system directly affects – and even controls – creatures’ social behavior, such as their desire to interact with others. So could immune system problems contribute to an inability to have normal social interactions? The…

The Orphan

Pediatric laboratory medicine plays a minor role in the large field of laboratory medicine. This may be due to the low incidence of rare diseases, which are a major task of pediatric medicine, but also to the small number of pediatric samples in routine laboratory medicine overall. Since most diagnostic laboratories do receive pediatric samples now and then, it is essential that there are primary…

News • Map

How the brain is organized

The age of exploration has long passed, but there is at least one area still largely uncharted: the human brain. Now, a detailed new map by researchers at Washington University School of Medicine in St. Louis lays out the landscape of the cerebral cortex – the outermost layer of the brain and the dominant structure involved in sensory perception and attention, as well as distinctly human…

News • Bacteria

New discovery could change ICU care

No one knows for sure how they got there. But the discovery that bacteria that normally live in the gut can be detected in the lungs of critically ill people and animals could mean a lot for intensive care patients.

News • Discovery

Potential genetic trigger of autoimmune disease

Researchers at Hospital for Special Surgery (HSS) have uncovered a potential genetic trigger of systemic autoimmune disease. The study, the culmination of more than 10 years of research, discovered virus-like elements within the human genome linked to the development of two autoimmune diseases: lupus and Sjogren's syndrome.

News • EADV Symposium

Dermatologists and Venereologists discuss refugee crisis

The 13th Symposium of the European Academy of Dermatology and Venereology, which opened its doors last Thursday 19th May and took place in Athens, Greece, came to a conclusion yesterday, after more than 2,000 participants benefited from a series of scientific sessions focusing on the latest developments in Dermatology and Venereology.

News • Research

Zika: Experimental drug slows down infection

Virologists from KU Leuven, Belgium, have shown that an experimental antiviral drug against hepatitis C slows down the development of Zika in mice. The research team was led by Professor Johan Neyts from the Laboratory of Virology and Chemotherapy.

Partners in crime: Stroke and Alzheimer’s disease

New EU-funded project CoSTREAM targets the common mechanisms and pathways of stroke, Alzheimer’s disease to improve disease prevention and treatment, by combining clinical, genetic, epidemiologic, metabolic and radiologic research to develop an organ-on-a-chip in vitro model for the blood-brain connection that will revolutionise drug-development.

News • Memory

A study shows how the brain switches into memory mode

Researchers from Germany and the USA have identified an important mechanism with which memory switches from recall to memorization mode. The study may shed new light on the cellular causes of dementia. The work was directed by the University of Bonn and the German Center for Neurodegenerative Diseases (DZNE).

News • Genetic mutations

New neurodevelopmental syndrome identified

A multicenter research team led by Columbia University Medical Center (CUMC) has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

News • Proteomics

The future of precision medicine

As medical professionals search for new ways to personalize diagnosis and treatment of disease, RPB-supported researchers at the University of Iowa have already put into practice what may be the next big step in precision medicine: personalized proteomics.

First diagnosed case of Alzheimer’s Disease in HIV-positive individual

Georgetown University researchers are reporting the first case of Alzheimer’s disease diagnosed in an HIV-positive individual. The finding in a 71-year-old man triggers a realization about HIV survivors now reaching the age when Alzheimer’s risk begins to escalate.

News • PIK3CA

Cancer drug could treat blood vessel deformities

A drug currently being trialled in cancer patients could also be used to treat an often incurable condition that can cause painful blood vessel overgrowths inside the skin, finds new research in mice led by UCL, Memorial Sloan Kettering (MSK) Cancer Center in New York and the Bellvitge Biomedical Research Institute (IDIBELL) in Barcelona.

Article • Virus

The Zika mystery: scapegoat or villain?

From the beginning the accusation somehow beggared belief. A ‘mild’ virus was blamed for causing hideous malformations in babies’ heads. Brazil, a country suffering its worst recession since the 1930s, as well as political upheaval, became the focus of a worldwide healthcare scare.

News • Mathematical Model

Explain with math the mutation rates in human genome

It turns out that the type, how frequent, and where new mutations occur in the human genome depends on which DNA building blocks are nearby, found researchers from the Perelman School of Medicine at the University of Pennsylvania.

News • Silicon

Research center combine electronics and photonics in neural probes

At the IEEE International Electron Devices Meeting 2015, world-leading nanoelectronics research center imec, KU Leuven, and Neuro-Electronics Research Flanders (NERF, set up by VIB/KU Leuven and imec) presented a set of silicon neural probes that combine 12 monolithically integrated optrodes using a CMOS compatible process.

Multiple sclerosis can be triggered by brain cell death

Multiple sclerosis (MS) may be triggered by the death of brain cells that make the insulation around nerve fibers, a surprising new view of the disease reported in a study from Northwestern Medicine and The University of Chicago.

Cause of organ dysfunction in Down syndrome

While most Down syndrome research has focused on the brain, a new report by Johns Hopkins University biologists uncovers how the disorder hampers a separate part of the nervous system that plays a key role in health and longevity.

News • Sex-linked disorders

X-Citing X Chromosome

A team of scientists from the University of Michigan Medical School shows that the genetic material in female (but not male) cells makes tiny amounts of a special genetic material called RNA to make one of the two X chromosomes silent. They call this RNA XistAR.

News • Social interactions

‘Love hormone’ helps produce ‘bliss molecules’

The hormone oxytocin, which has been associated with interpersonal bonding, may enhance the pleasure of social interactions by stimulating production of marijuana-like neurotransmitters in the brain, according to a University of California, Irvine study.

Bipolar patients' brain cells predict response to lithium

The brain cells of patients with bipolar disorder, characterized by severe swings between depression and elation, are more sensitive to stimuli than other people's brain cells, researchers of the Salk Institute have discovered.

News • Mystery solved

Key Element of cellular organization found

St. Jude Children’s Research Hospital scientists have discovered evidence of a mechanism at the heart of amyotrophic lateral sclerosis (ALS) and related degenerative diseases. The research highlights a possible new treatment strategy for the devastating disorders.

News • Screening

Risk-free pre-natal examination

The newly founded Tübingen company CENATA GmbH has been offering the Harmony non-invasive pre-natal test since May 2015. CENATA has obtained a licence from the U.S. company Ariosa Diagnostics, and is now the only company in the world outside the United States that is permitted to conduct the analysis and evaluation. This examination enables pregnant mothers to test their unborn children for…

News • Protein DART

New shock-and-kill strategy against HIV

A unique molecule developed at Duke Medicine, the University of North Carolina at Chapel Hill and MacroGenics, Inc., is able to bind HIV-infected cells to the immune system’s killer T cells. It could become a key part of a shock-and-kill strategy being developed in the hope of one day clearing HIV infection.

News • Neurotransmitters

Coordinating traffic down the neuronal highway

An international team of researchers, led by scientists at the National University of Singapore (NUS), has identified a protein that regulates the growth of neurons by transporting key metabolic enzymes to the tips of neural cells. Their findings open up new avenues for design of drugs for ataxia, a motor coordination disorder.

Down syndrome research untangles therapeutic possibilities for Alzheimer's

More than five million Americans are living with Alzheimer's disease (AD). Of them, 400,000 also have Down syndrome. Both groups have similar looking brains with higher levels of the protein beta amyloid.

News • Discovery

Researchers reveal cellular clockwork underlying inflammation

Researchers at the Virginia Bioinformatics Institute at Virginia Tech have uncovered key cellular functions that help regulate inflammation -- a discovery that could have important implications for the treatment of allergies, heart disease, and certain forms of cancer.

News • bacterial communities

What’s lurking in your lungs?

With every breath you take, microbes have a chance of making it into your lungs. But what happens when they get there? And why do dangerous lung infections like pneumonia happen in some people, but not others? Researchers at the University of Michigan Medical School have started to answer these questions by studying the microbiome of the lungs – the community of microscopic organisms that are…

Article • Diagnostic toolkit

New cardiac genetic testing panels

As new cardiac genetic testing panels become available, cardiologists have been warned not to lose sight of the importance of comprehensive clinical evaluation. While genetic testing is helping to identify more people at risk of inherited conditions, experts stress they are only part of the diagnostic toolkit.

Scientists uncover nuclear process in the brain

NIH-funded study highlights the possible role of glial brain cells in neurological disorders.

News • Therapy

Approach to reverse kidney damage

Adults who are worried or terrified sometimes curl up into a fetal position. Likewise, adult cells that are injured, including genetic injury leading to cancer, initiate a process that was present during embryonic development.

News • Genetic Disorder

How to predict development of autism or psychosis

Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis — that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia. But there has been no way to predict which child with the abnormality might be…

News • Genetics

Blood pressure regulation by a stress-sensitive gatekeeper

Researchers at the RIKEN Brain Science Institute have uncovered a new mechanism for the regulation of blood pressure. Published in Molecular Cell, the study links events at the single-cell level to a system-level effect, showing that blood pressure can drop dramatically if the protein ERAP1 is released from cells and enters the blood stream.

Article • Research

Genetic alterations

This article discusses examples of applications of genetic analyses in coagulation disorders and haematological and oncological diseases. Professor Christine Mannhalter highlights the impact changes have on the occurrence and severity of diseases and their influence on therapy response. Report: Christine Mannhalter

Article • Oophorectomy

Leading expert takes stand against prophylactic oophorectomy

“I am very concerned about the impact that Angelina Jolie has on the media,” Walter Rocca, professor of epidemiology and neurology at the Mayo Clinic in Rochester, Minnesota, stated. He wasn’t hinting to Jolie’s acting choices or waifish silhouette, but to the confusion surrounding her decision to remove her ovaries to prevent ovarian cancer. By Mélisande Rouger

Protein capable of regulating DNA repair during sperm formation

Researchers from the Universitat Autònoma de Barcelona (UAB) and the UAB Institute of Biotechnology and Biomedicine discovered that the signalling route triggered by the ATM protein regulates DNA repair during the production of spermatocytes by meiosis, the cell division process which yields spermatozoa.

News • Research

Influence of magnetic fields on neurodegenerative diseases

Low-frequency alternating magnetic fields such as those generated by overhead power lines are considered a potential health risk because epidemiological studies indicate that they may aggravate, among other things, neurodegenerative disorders such as Alzheimer's disease and amyotrophic lateral sclerosis (ALS). However, a recent study by researchers at the Institute of Pathobiochemistry at the…

News • Study

British lung transplant patients fare better than Americans

Publicly insured Americans who undergo lung transplantation for cystic fibrosis fare markedly worse in the long run than both publicly insured patients in the United Kingdom and privately insured Americans, according to the results of a study conducted by researchers from Johns Hopkins in Baltimore and U.K. colleagues working in that nation’s government-funded National Health Service.

Article • Liver

Stellate cells control regeneration and fibrosis

Scientists from the German Cancer Research Center (DKFZ) and the Medical Faculty in Mannheim at Heidelberg University are searching for new approaches to prevent liver fibrosis. They have identified a surface molecule on special liver cells called stellate cells as a potential target for interfering with this process. When the researchers turned off the receptor, this led to reduced liver…

Article • IVD Market

Santa’s bag full of cash

We are seeing great priority shifts in China’s funding for R&D and manufacturing expansion. Even the agency responsible for selecting the recipients has changed, Jie Ren reports from the Beijing-based market analysis consultancy Whitney Research Inc. Report: John Brosky

A blood test for suicide?

Johns Hopkins researchers say they have discovered a chemical alteration in a single human gene linked to stress reactions that, if confirmed in larger studies, could give doctors a simple blood test to reliably predict a person’s risk of attempting suicide.

Researching the genetic causes of infectious and congenital immunodeficiency disorders

The Robert Koch Award will be shared between Professors Casanova and Fischer; Professor Bujard is being awarded the Robert Koch Gold Medal

Researchers Find Protein 'Switch' Central to Heart Cell Division

In a study that began in a pair of infant siblings with a rare heart defect, Johns Hopkins researchers say they have identified a key molecular switch that regulates heart cell division and normally turns the process off around the time of birth. Their research, they report, could advance efforts to turn the process back on and regenerate heart tissue damaged by heart attacks or disease.

Article • 123

Earlier detection of Down’s syndrome

Down’s syndrome (also referred to as trisomy 21) is a genetic disorder caused by the presence of all or part of an extra copy of chromosome 21 in a person’s DNA. Current screening for Down’s syndrome and other trisomy conditions includes a combined test done between the 11th and 13th weeks of pregnancy.

Article • MEDICA 2013

Genetically targeted medicine forges ahead

Healthcare is undergoing a major change set to offer a real prospect of far more genetically targeted treatments, according a leading human geneticist Sir John Burn, Professor of Clinical Genetics at Newcastle University, England.

Article • Trisomy 21

Earlier detection of Down’s syndrome

Down’s syndrome (also referred to as trisomy 21) is a genetic disorder caused by the presence of all or part of an extra copy of chromosome 21 in a person’s DNA.

Searching Brain Pathways for Clues on Autism

Timothy Roberts, PhD, works in the middle of an epidemic. In the 20 years the researcher has studied autism, the diagnosis rate among children in the United States has risen from one in 1,000 to one in 88. No one is sure of the cause, how to prevent it, or how to treat it.

Schizophrenia gene discovered

Working independently from different perspectives, geneticists from Finland and biochemists from Würzburg have researched the molecular mechanisms of schizophrenia and cognitive impairment.

"Excellence across Borders" fosters practical diabetes management

Bayer HealthCare supports local projects under the "Excellence across Borders" program in order to improve care of people with diabetes. Among the projects is a Diabetic School Awareness Program in the Kingdom of Saudi Arabia, which is planned to start in autumn this year.

Genetic variation doubles risk of aortic valve calcification

Study described in The New England Journal of Medicine is the first to show cause-and-effect relationship between a gene variant and calcium deposits on the aortic valve.

Mass spectrometry

‘Mass spectrometry has developed into a successful routine procedure,’ according to Dr Christoph Seger (Univ. Doz.), technical head of the Mass Spectrometry and Chromatography division at the Central Institute of Medical and Chemical Laboratory Diagnostics, Innsbruck University Hospital, Austria.

Medical research in France

Since its creation three years ago, the French National Alliance for Health and Life Sciences (Aviesan) has proved its full worth in scientific coordination, Annick Chapoy reports from Paris

A link between adult neurogenesis and memory recovery

The brain of mammals produces new neurons for the whole of their lives. This process, called neurogenesis, enables cognitive functions such as memory or learning, and its decrease is linked to some neuro-psychiatric pathologies and intellectual disabilities.

Promise for controlling'blood-brain barrier'

Working with mice, Johns Hopkins researchers have shed light on the activity of a protein pair found in cells that form the walls of blood vessels in the brain and retina, experiments that could lead to therapeutic control of the blood-brain barrier and of blood vessel growth in the eye.

We‘ll have highly personalised avatars

Petabytes of data on each patient will become the foundation of future diagnostics and therapy. Genetics, imaging and environmental information – toxins, lifestyle – will deliver a precise picture of the individual, allowing for diagnostic precision and targeted treatments.

We‘ll have highly personalised avatars

Petabytes of data on each patient will become the foundation of future diagnostics and therapy.

Gene therapy restores sense of smell in mice

A team of scientists from Johns Hopkins and other institutions report that restoring tiny, hair-like structures to defective cells in the olfactory system of mice is enough to restore a lost sense of smell.

Gene Therapy in the EU

For the first time, a EU agency recommends a gene therapy drug for commercial release in Europe. The European Medicine's Agency announced in late July 2012 that its Committee for Medicinal Products for Human Use (CHMP) recommends Glybera for commercial release in the European Union

Article • Autoimmune disease risk

Silicone gel breast implants and connective tissue

Silicone breast implants are the most popular type of implant. The postulated relation between silicone breast implants and the risk of connective tissue and autoimmune diseases has generated intense medical and legal interest during the past decade. Considerable controversy has surrounded the long-term safety of silicone breast implants.

When the heart gives up

This April the 77th Annual Meeting of the German Cardiac Society (DGK) presented over 300 events with 1,800 speakers, covering the entire spectrum of cardiovascular diseases, from fundamental research to clinical routine. Professor Gerd Hasenfuss, Director of the Department of Cardiology and Pulmonology and Chair of the Heart Research Centre in Gottingen, particularly requested a focus on …

Article • Artificial insemination

France: The country’s first ‘saviour sibling’ is a ‘double-hope baby’

The birth, in France, of its first baby to be conceived by artificial insemination on top of the selection of an embryo based on its blood, has sent new flames into the hot parliamentary debate over the reform of bioethics law.

Anything but standard

Although paediatric laboratory medicine and clinical chemistry is a well and long established scientific field, it is still a challenging one with its own special problems, as Dr Massimiliano Cantinotti, Paediatric Cardiologist Consultant at Fondazione G Monasterio, National Research Institute, Massa, Italy, well knows.

Biomarkers - Keys to prevention and early detection

Biomarkers as the key to prevention and early detection were the subject this autumn at the 7th Annual Congress of the German Society for Clinical Chemistry and Laboratory Medicine (DGKL) in Mannheim. For the DGKL president Professor Karl J Lackner MD, Director of the Institute for Clinical Chemistry and Laboratory Medicine at Johannes Gutenberg University, Mainz, the topic is of increasing…

Global Use and Availability of Treatment Involving Transplantation of Blood Stem Cells

An examination of the world-wide use of hematopoietic stem cell transplantation (HSCT), which involves transplantation of blood stem cells derived from the bone marrow or blood, finds that there are significant differences in transplant rates between countries and continental regions by indication and donor type, and that HSCT is most frequently used in countries with higher gross national…

Epigenomics

The UK’s Babraham Institute, which conducts biomedical research, has established a ‘high throughput’ epigenomics sequencing facility to improve understanding of healthier ageing.

Parkinson's Disease: genetic risk factors identified

Two genes containing mutations known to cause rare familial forms of parkinsonism are also associated with the more common, sporadic form of the disease where there is no family history, researchers have found. An International study reveals common gene variants in people of European descent.

Applied Biosystems introduces two new genetic analyzers

Applied Biosystems, a division of Life Technologies Corporation, has announced the expansion of its industry-leading portfolio of capillary electrophoresis sequencing systems with the introduction of two new lines of genetic analyzers.

EUROMEDLAB 2009

7-11 June Innsbruck, Austria

Genome Structural Variation Consortium used Roche technology

Roches NimbleGen´s CGH microarray platform was used to generate the highest-resolution map of human genome copy number variation. Recent advances in microarray technology have led to the discovery of extensive copy number variation in the human genome, including DNA copy number gains (duplications), losses (deletions), and multiallelic or complex rearrangements.

Diabetes: an increasing threat to people and society

Approximately 31 million people in the European Union are suffering from diabetes, a devastating disease with severe consequences for patients and their families, but also for the society at large and the economic prosperity of Europe. This week EH Online will focus on innovative strategies in diabetes care and on new management systems to support physicians and patients alike. Moreover, we will…

Spotlight Cholesterol: the role of diet, statins and genetics

The inverse epidemiological association between serum levels of HDL-C and risk of coronary artery disease (CAD) is graded and has been validated in multiple studies. However, there is remaining controversy whether a low HDL-C should not predominantly be considered a marker of poor lifestyle (obesity, lack of exercise, hypertriglyceridemia, diet, etc.), rather than a primary causal agent for…

Arrays to detect genomic disorder

Roche reports that, using its NimbleGen CGH arrays, researchers* have identified a recurrent reciprocal genomic rearrangement of chromosomal region 17q12 in foetal samples with congenital anomalies that is also associated with paediatric renal disease and epilepsy.

New medical options by tobacco plants

Bayer and its affiliated firm Icon Genetics developed an own production process which provides the opportunity to make therapeutic proteins from tobacco plants. The pilot plant for biotech drugs opened on June 16 in Halle, Saxony-Anhalt.

At home genomic tests for disease risk may be premature

The recent marketing of "at home" genomic tests for disease risk may be premature, according to Dr. Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center (MSKCC). "Health professionals are now faced with the prospect of their patients coming to the office, a DNA profile in hand, asking for preventative management tailored to their…

Research on small RNA molecules could bring new therapies

The discovery of small RNA molecules and their relevance for gene regulation has dramatically changed our understanding of many essential cellular processes - and provides the opportunity to develop new ways for treating various diseases.

On the near horizon

The first FDA-approved prescription medication that reduces blood phenylalanine (Phe) levels in patients with Phenylketonuria (PKU) — a genetic disorder that prevents the normal use of protein foods and can lead to impaired brain development if untreated — could result in more regular screening of blood phenylalanine (Phe) levels in PKU patients.

How small RNA molecules impact biomedical research

The discovery of small RNA molecules and their relevance for gene regulation has dramatically changed our understanding of many essential cellular processes — and provides the opportunity to develop new ways for treating various diseases. By selectively inhibiting gene expression and thereby “silencing” genes involved in pathogenesis, the RNA molecules constitute a unique tool to treat…

Computer programme aims to personalise medicine

A computer programme under development at the National Centre for Biomolecular Research at Masaryk University, in Brno, by Jiri Damborsky MD and a team of scientists, could become the first step towards personalised medicine.

Mental health and radiology

The Uliazpi Foundation in Spain, which studies and cares for severely mentally retarded patients, carried out an interesting study to identify bone mineral density values in a group of its patients, compare these with the general population and investigate the possible influence on these values on certain clinical variables and therapeutic regimens.

A new scientific association promotes use in mainstream medicine

Enzymes are biocatalysts that control the different metabolic processes of living organisms. These range from digestion to the copying of genetic information.

AACC emphasises preventive diagnostics

San Diego, California - 20,000 international physicians, scientists and other visitors travelled to the Annual Meeting & Clinical Lab Expo of the American Association for Clinical Chemistry (AACC) in July, and 750 exhibitors emphasised the increasing importance of this gathering

Is there a link between stroke and Fabry disease?

A joint project of more than 30 European stroke units just started to examine a potential connection between Fabry disease and stroke in young patients. The results of the worldwide SIFAP (Stroke in Young Fabry Patients) study might give an explanation for some of the 25% of strokes with unknown origin in patients aged 18-55 years.

European initiative "TREAT-NMD" launched to aid neuromuscular disease patients

TREAT-NMD (Transnational Research in Europe - Assessment and Treatment of Neuromuscular Diseases) is a European Union funded Network of Excellence launched on January 1st 2007 with the aim of improving treatment and finding cures for patients with neuromuscular diseases.