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Search for: "genetic disorders" - 229 articles found

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Article • Promising, but in need of further validation

Implementation challenges of blood biomarkers for Alzheimer’s disease

Blood-based biomarker (BBB) tests may represent the best weapon to combat the soaring rates of Alzheimer’s disease (AD) throughout the world. Existing clinically validated tests are currently deployed to facilitate diagnosis, to monitor disease and effectiveness of treatments, to quantify progression, and to determine if a patient is appropriate for treatment or participation in a clinical…

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News • Gene Therapy

Innovative gene therapy for hemophilia

Until now, those affected have had to inject the missing coagulation factor proteins themselves several times a week. Gene therapy now offers those affected the prospect of an improvement: the therapeutic agent is administered as a single intravenous injection.

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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.

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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…

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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…

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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…

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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.

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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…

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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.

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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…

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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.

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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…

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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…

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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…

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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.

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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…

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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…

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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…

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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.

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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…

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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…

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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…

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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…

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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…

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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…

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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.

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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…

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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…

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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…

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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.…

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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…

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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…

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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.

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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…

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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…

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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,…

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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,…

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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…

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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.…

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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…

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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,…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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.

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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.

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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…

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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,…

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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…

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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…

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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…

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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.

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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,…

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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…

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    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…

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    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.

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    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…

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    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.

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    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.

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      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.

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      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…

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      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…

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      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…

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      Sponsored • Pediatric laboratory medicine

      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…

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      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…

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      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.

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      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.

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      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).

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      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.

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      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.

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      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.

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      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.

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      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…

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      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.

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      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.

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      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.

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      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…

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      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.

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      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.

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      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…

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      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

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      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

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      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.

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      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…

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      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

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      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.

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      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.

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      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

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      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.

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      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 …

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      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.

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      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.

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      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.

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      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.

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      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…

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      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.

      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.

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      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…

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      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…

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      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

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      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.

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