Much like joints or blood vessels, the brain can be affected by calcifications. This can lead to neurodegenerative disease, but is not well studied. Now, researchers from Norway identified a gene that provides new insights.
From cancer to AI, from management to new medication: this year's Labmed Forum at MEDICA 2023 in Düsseldorf (November 13-16) once again features an exciting scientific programme.
Combining two types of heart scan techniques could help doctors to detect deadly hypertrophic cardiomyopathy (HCM) before symptoms and signs on conventional tests appear.
Dutch scientists have revealed new scientific insights into the features of fibrolamellar carcinoma (FLC), a rare type of childhood liver cancer.
New research has identified a potential therapeutic target and developed a unique delivery system to treat osteosarcoma, a bone cancer that primarily affects children and adolescents.
Researchers have now found that artificial intelligence (AI) can improve the effectiveness of colonoscopy in the presence of Lynch syndrome.
Researchers from the University of Bern and Inselspital provide an overview of the latest technologies in precision oncology. Translating these into clinical application is still a major challenge.
Researchers identify critical spots on the genome where gene editing could cause an unwanted response, and they provide recommendations for safer approaches.
Cardiomyopathy is not a uniform disease. Rather, individual genetic defects lead to heart failure in different ways, an international consortium reports.
Researchers have developed adeno-associated virus variants that target heart muscle cells and can thus be used for the precise treatment of heart diseases.
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.
Scientists have identified a new disease in a ground-breaking discovery that could help patients with unexplained liver and kidney problems.
Computational approaches are being applied on enormous amounts of data from sequencing technologies to develop tools to help clinicians manage cancer more effectively.
Researchers have established an injectable hybrid inorganic nanoscaffold-templated stem cell assembly and applied it to the regeneration of critically-sized cartilage defects.
An international team of engineers is bioprinting bone along with two growth factor encoding genes that help incorporate the cells and heal defects in the skulls of rats.
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.
Researchers in Zurich have developed a fluorescent orexin biosensor to observe on of the brain's signaling molecules "live" to gain insights into constant daytime sleepiness (narcolepsy).
Faulty versions of the BRCA1 and BRCA2 genes are well known to increase the risk of breast and ovarian cancer. Now, they have been linked to several other cancers, including those that affect men.
In both the mice and organoids, cytokines suppressed tumor growth after treatment, and defense cells migrated to the brain region affected by the tumor, alerting the immune system to its existence.
Scientists have grown beating heart cells to attempt to identify drugs to prevent Covid-19-related heart damage. Concerns over the extent of cardiac damage among Covid patients emerged during the coronavirus pandemic and there are also suggestions that the impact on cardiomyocytes could contribute to the symptoms of long Covid. To explore these issues, a research team at the University of…
Stefan Pfister, a director of the Hopp Children’s Cancer Center Heidelberg (KiTZ), a department head at the German Cancer Research Center (DKFZ) and a pediatric oncologist at University Hospital Heidelberg (UKHD), has received the Léopold Griffuel Award from Fondation ARC, the French cancer research foundation. The prize, worth EUR 150,000 in Basic Research category, is one of the highest…
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…
Researchers at Vanderbilt University Medical Center (VUMC) and the University of Texas Medical Branch (UTMB) at Galveston have discovered what may be the Achilles' heel of the coronavirus, a finding that may help close the door on COVID-19 and possibly head off future pandemics.
Launched in 2011, the Pan-Cancer Project, involved more than 1,300 scientists and clinicians in 37 countries, and analysed more than 2,600 genomes of 38 tumour types. Discovery: The first indications of cancer development can be found in genes at a very early stage, which triggers new opportunities for treatment.
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.
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…
“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…
Scientists from the German Cancer Research Center (DKFZ) and the Universities of Cambridge and Edinburgh have been studying the evolution of tumors following chemical damage. They discovered that the DNA lesions caused by the chemical are not eliminated immediately, but are passed on unrepaired over several rounds of cell division. This "lesion segregation" can drive unexpectedly…
Susanne Hellmuth and Olaf Stemmann from the Chair of Genetics at the University of Bayreuth have discovered a natural protective mechanism that leads to the programmed death of potentially diseased cells.
The causes of 40 percent of all cases of certain medulloblastoma – dangerous brain tumors affecting children – are hereditary. A genetic defect that occurs in 15 percent of these children plays a key role by destabilizing the production and breakdown of proteins. The researchers suspect that protein metabolism defects could be a previously underestimated cause of other types of cancer.
Could the ability of cancer cells to quickly alter their genome be used as a weapon against malignant tumours? Researchers at Uppsala University have succeeded in developing a substance that has demonstrated promising results in experiments on both animal models and human cancer cells. The study is published in the journal Nature Communications.
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…
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…
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…
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…
For some cancers, initial treatment with chemotherapy brings positive, but only temporary, results: tumors shrink, but then rebound as the cancer becomes drug-resistant. This pattern of remission-resistance-relapse is particularly true for pancreatic cancer, an aggressive disease in which early success is often countered by eventual disease progression. To wit: The one-year relative survival rate…
A protein associated with cancer growth appears to drive the deadly lung disease known as idiopathic pulmonary fibrosis (IPF), according to new research from Cedars-Sinai. The discovery, made in laboratory mice and human tissue samples, may have implications for treating the disease using existing anti-cancer therapies that inhibit the protein PD-L1. Idiopathic pulmonary fibrosis is a chronic,…
Until now, researchers haven’t been able to accurately quantify a latent form of HIV that persists in patients’ immune cells. A new genetic technique is fast and 10 to 100 times more accurate than previous diagnostics. This hidden, inactive version of HIV embeds into cells’ genomes and can persist despite otherwise successful therapies – thwarting attempts to cure the infection. Using a…
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…
Scientists from the German Cancer Research Center (DKFZ) and the stem cell institute HI-STEM* have succeeded for the first time in directly reprogramming human blood cells into a previously unknown type of neural stem cell. These induced stem cells are similar to those that occur during the early embryonic development of the central nervous system. They can be modified and multiplied indefinitely…
One of the downsides to getting older is that skeletal muscle loses its ability to heal after injury. New research from the University of Pittsburgh implicates the so-called “longevity protein” Klotho, both as culprit and therapeutic target. The paper, published this week in Nature Communications, showed that, in young animals, Klotho expression soars after a muscle injury, whereas in old…
Scientists working to bioengineer the entire human gastrointestinal system in a laboratory now report using pluripotent stem cells to grow human esophageal organoids.
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy and affects more than two million people worldwide. In Germany, at least 30.000 people suffer from CMT which belongs to the class of rare disease. In a close collaboration, researchers at the Max-Planck-Institute for Experimental Medicine and the University Medical Center of Göttingen now hope to use lecithin, a harmless…
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.
Austrian researchers have accomplished an astounding feat: They created organoids that mimic the onset of brain cancer. This method not only sheds light on the complex biology of human brain tumors but could also pave the way for new medical applications.
Scientists have developed a new bone engineering technique called Segmental Additive Tissue Engineering (SATE). The technique allows researchers to combine segments of bone engineered from stem cells to create large scale, personalized grafts that will enhance treatment for those suffering from bone disease or injury through regenerative 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.
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…
A powerful genome editing tool can be deployed as an ace DNA detective, able to sniff out DNA snippets that signal viral infections, cancer, or even defective genes. This genetic detective, developed in the laboratory of Howard Hughes Medical Institute (HHMI) Investigator Jennifer Doudna at the University of California, Berkeley, uses the genome-slicing system known as CRISPR. By combining the…
A team of researchers from the Cleveland Clinic Lerner Research Institute have found that gradually depleting an enzyme called BACE1 completely reverses the formation of amyloid plaques in the brains of mice with Alzheimer’s disease, thereby improving the animals’ cognitive function. The study, which will be published in the Journal of Experimental Medicine, raises hopes that drugs targeting…
A new genetic study by UK-based scientists suggests that immunotherapy drugs could prove to be an effective treatment for some breast cancer patients. Scientists from the Wellcome Trust Sanger Institute, near Cambridge – one of the world’s leading genome centres – and their collaborators, have identified particular genetic changes in a DNA repair mechanism in breast cancer. Led by Dr Serena…
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,…
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…
Early research results suggest scientists might be on to a way to preserve heart function after heart attacks or for people with inherited heart defects called congenital cardiomyopathies. Researchers at the Cincinnati Children’s Heart Institute report in Nature Communications that after simulating heart injury in laboratory mouse models, they stopped or slowed cardiac fibrosis, organ…
Today, many congenital heart defects can be diagnosed in the unborn child – and even treated in utero. Monique Haak (46), gynaecologist-perinatologist and fetal surgeon at Leids University Medical Center (LUMC) in Leiden, The Netherlands, is an expert in the diagnosis and surgery of fetal heart defects.
Early-stage colon cancer patients could benefit in the future from specific genetic tests that forecast their prognosis and help them make the right decision regarding chemotherapy.
Current view is that cancer development is initiated from cells that acquire initial DNA mutations. These in turn provoke additional defects, and ultimately the affected cells begin to proliferate in an uncontrolled manner to develop primary tumors. These can later spread and create metastases, or secondary tumors, in other parts of the body. However, according to a study by researchers at the…
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.
Genetic testing of tumor and blood fluid samples from people with and without one of the most aggressive forms of skin cancer has shown that two new blood tests can reliably detect previously unidentifiable forms of the disease.
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".
The brain disease “progressive supranuclear palsy” (PSP) is currently incurable and its symptoms can only be eased to a very limited degree. PSP impairs eye movements, locomotion, balance control, and speech. Scientists at the German Center for Neurodegenerative Diseases (DZNE) and the Technical University of Munich (TUM) have now discovered a molecular mechanism that may help in the search…
Scientists at Washington University School of Medicine in St. Louis have detailed the structure of a molecule that has been implicated in Alzheimer’s disease. Knowing the shape of the molecule — and how that shape may be disrupted by certain genetic mutations — can help in understanding how Alzheimer’s and other neurodegenerative diseases develop and how to prevent and treat them.
New policy recommendations on preventing occupational exposure to cytotoxic drugs were launched in the European Parliament on 26 April 2016, an important new initiative designed to protect healthcare professionals working across the EU.
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…
A gene called ‘Wars2’ has been pinpointed as a potential new target in treating heart disease. These latest findings are the first to show that Wars2 has a star role in driving the growth of blood vessels in the heart.
Scientists at the University of British Columbia and Vancouver Coastal Health have proven that multiple sclerosis (MS) can be caused by a single genetic mutation – a rare alteration in DNA that makes it very likely a person will develop the more devastating form of the neurological disease.
Medical professionals have long known that the buildup of plaque in arteries can cause them to narrow and harden, potentially leading to a whole host of health problems — including heart attack, heart disease and stroke. While high blood pressure and artery stiffness are often associated with plaque buildup, new research from engineers at Washington University in St. Louis shows they are not…
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.
No self-respecting TV crime series is without a pathologist – but the fictitious pathologist who incessantly solves crimes has little to do with reality.
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.
It’s the dream of many infertile couples: to have a baby. Tens of thousands of children are born by in vitro fertilization, or IVF, a technique commonly used when nature doesn’t take its course. However, embryos obtained when a sperm fertilizes an egg in a test tube often have defects. In a study, researchers at the University of Montreal Hospital Research Centre (CRCHUM) discovered an…
Mom’s eyes and dad’s tumor? Cancer is due to genetic defects, some of which can be hereditary. The gene variant rs351855, for example, occurs in one in two cancer patients. A team headed by Axel Ullrich from the Max Planck Institute of Biochemistry in Martinsried identified the gene variant a decade ago. Now, they succeeded for the first time in showing that the variation exposes an otherwise…
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.
If you have diabetes, or cancer or even heart problems, maybe you should blame it on your dad’s behaviour or environment. Or even your grandfather’s. That’s because, in recent years, scientists have shown that, before his offspring are even conceived, a father’s life experiences involving food, drugs, exposure to toxic products and even stress can affect the development and health not…
In a discovery that could lead to more targeted and effective treatments for certain lung and prostate cancers, researchers at the University of Virginia School of Medicine have identified two new cancer-causing gene mutations – mutations that may be particularly susceptible to cancer-fighting drugs already approved by the federal Food and Drug Administration. One of the gene mutations also may…
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.
Scientists at Karolinska Institutet and Karolinska University Hospital in Sweden have discovered a new explanation for severe early infant epilepsy. Mutations in the gene encoding the protein KCC2 can cause the disease, hereby confirming an earlier theory. The findings are being published in the journal Nature Communications.
An LMU team has uncovered a new role for the protein Atrx, which is involved in various aspects of gene expression. The new work shows that the protein is also involved in silencing endogenous retroviral genomes integrated in cellular DNA.
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…
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.
Tumor suppressor genes protect against cancer. Until now, scientists have had to perform complex experiments to detect whether or not a mutation or loss of this gene type does, in fact, cause cancer. Scientists from the German Cancer Research Center (DKFZ) have now used a new gene technology method called CRISPR/Cas9 technology for this detection.
ECMO's role in a world's first cardiac procedure: Cardiac specialists in the UK have performed a world’s first operation on a 14-year-old boy suffering a severe heart condition. Mark Nicholls reports.
In studies on prostate cancer, scientists from the German Cancer Research Center (DKFZ) simultaneously investigated the genetic and epigenetic development of the tumors.
Researchers from the University of Heidelberg and the German Cancer Research Center (DKFZ) have developed a new method that uses light to control processes in living cells.
For several decades pathologists worldwide have been under increasing pressure to handle a steady increase in laboratory tests with a steady decrease in finance and staff.
The Robert Koch Award will be shared between Professors Casanova and Fischer; Professor Bujard is being awarded the Robert Koch Gold Medal
For several decades, pathologists worldwide have been under increasing pressure to handle a steady increase in laboratory tests with a steady decrease in the amount of financial and staff resources. Add to this the escalating volume of increasingly complex, sophisticated testing and the importance of pathology informatics is evident.
USA - Oocyte modification to eliminate inherited mitochondrial defects in a human embryo was the subject of a globally scrutinised Food and Drug Administration (FDA) hearing held in February.
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.
Working independently from different perspectives, geneticists from Finland and biochemists from Würzburg have researched the molecular mechanisms of schizophrenia and cognitive impairment.
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.
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.
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.
Prenatal ultrasound images are the first images we see of new humans. But the prenatal ultrasound first carried out by Professor Ian Donald in the late 50s has little to do with today’s potential with 3-D and 4-D imaging with Doppler and colour Doppler. The three tightly linked disciplines gynaecology, prenatal medicine and obstetrics would now be inconceivable without ultrasound
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 …
Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. In the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic…
Ultrasound is the undisputed choice for foetal imaging. However, the lack of amniotic fluid, an unfavourable foetal position or maternal obesity could daunt even the best radiographer. In such circumstances prenatal magnetic resonance imaging (MRI) – a non-invasive and non-irradiating procedure – is a helpful diagnostic tool.
The UK’s Babraham Institute, which conducts biomedical research, has established a ‘high throughput’ epigenomics sequencing facility to improve understanding of healthier ageing.
The Innovation Prize for outstanding, application-oriented ideas in life sciences has been awarded by the Working Group of BioRegions at the Biotechnica in Hanover to research groups from Heidelberg, Munich and Ulm. Professor Lisa Wiesmüller, of the Women’s Hospital, University of Ulm, received the €2,000 prize for developing a test system for the identification and early detection of breast…
The Dutch screening programme, which began in 1990, invites women aged 50-75 years for mammography screening every two years. Today, the national programme is undergoing considerable regional re-organisation. As one of a team of 12 radiologists at the Alkmaar Medical Centre, Dr Shirley Go is responsible for Mammography and Screening in a large Dutch region. Daniela Zimmermann, asked Dr Go about…
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…
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.
Analytica, to be held in Munich for the 21st time, has become a leading international trade fair for instrumental analysis, laboratory technology and biotechnology, showcasing the entire range of equipment, solutions and services for laboratories in industry and research. About 400 exhibitors will fill five halls in the New Munich Trade Fair Centre.
Children with recessive dystrophic epidermolysis bulosa (RDEB) lack a protein that binds the skin to the body, resulting in fragile skin that sloughs off with little movement or friction.
21st. Analytica 2008 held in april 2008 in Munich, Germany.
Lung cancer has a high mortality: Despite prevention programms each year 1.3 million people die due to malignant mutation of lung cells. It's the most common cause of cancer-related death in men, second most common in women.
New ultrasound technologies detect foetal heart defects earlier.