Search Menu

Search for: "genetic defects" - 105 articles found

Photo

Video • Coronavirus medication research

Lab-grown beating heart cells could identify Covid drugs

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…

Photo

News • Léopold Griffuel Award

Childhood cancer research: Award for Stefan Pfister

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…

Photo

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…

Photo

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…

Photo

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…

Photo

News • Lesion segregation

Explaining the extreme complexity of mutations in tumor genomes

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…

Photo

News • Programmed cell death

Cellular mechanism protecting against cancer

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.

    Photo

    News • Medulloblastoma

    New insights into deadly brain tumours in children

    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.

    Photo

    News • Susceptibility to future drugs

    Exploiting the carelessness of cancer cells

    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.

    Photo

    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…

    Photo

    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…

    Photo

    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…

    Photo

    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…

    Photo

    News • Against rebound

    Pancreatic cancer: Genome-wide analysis reveals new strategies

    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…

    Photo

    News • Idiopathic pulmonary fibrosis

    Protein linked to cancer growth drives deadly lung disease IPF

    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,…

    Photo

    News • Dormant virus

    Finding 'hidden' HIV in cells

    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…

    Photo

    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…

    Photo

    News • Regenerative medicine

    Blood cells can be directly reprogrammed into neural stem cells

    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…

    Photo

    News • Klotho

    Could a ’longevity protein’ be the key to rejuvenating muscles?

    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…

    Photo

    News • Morbus Charcot-Marie-Tooth

    CMT: Unlikely ally against deadly neuropathy

    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…

    Photo

    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.

    Photo

    News • Tumor research

    Growing brain cancer in a dish

    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.

    Photo

    News • bioengineering

    Advancing technique for of personalied bone grafts

    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.

    Photo

    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…

    Photo

    News • Gene editing

    CRISPR-based technology DETECTR can detect viral DNA

    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…

    Photo

    News • Cognitive improvement

    Researchers successfully reverse Alzheimer’s disease in mice

    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…

    Photo

    Article • Immunotherapy

    The DNA mismatch repair mechanism

    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…

    Photo

    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,…

    Photo

    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…

    Photo

    News • Cardiac injury

    Could this be the way to mend a broken heart?

    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…

    Photo

    News • Cancer development

    Tumor induction from a distance

    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…

    Photo

    News • Lab Study

    A protein called PERK - Treating progressive supranuclear palsy

    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…

    Photo

    News • Study

    Molecular Roots of Alzheimer’s

    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.

    Photo

    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…

    Photo

    News • Plaque

    Research suggests new contributor to heart 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…

    Photo

    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.

    Photo

    News • Research

    Solving the mystery of defective embryos

    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…

    Photo

    Gene variation promotes uncontrolled cell division

    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…

    Photo

    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.

    Photo

    News • Genes

    Blame your health problems on your grandfather

    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…

    Photo

    News • Mutations

    Cancer Genes open door to targeted treatments

    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…

    Photo

    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.

    Photo

    News • Endogenous retroviruses

    Silence is golden …

    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.

    Photo

    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…

    Photo

    News • Gene defects

    Cancer brake failure leads to brain cancer

    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.

    Photo

    Oocyte modification

    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.

    Photo

    New trends in Pathology Informatics

    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.

    Photo

    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.

    Photo

    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 …

    Photo

    1000 Genomes Project publishes analysis of completed pilot phase

    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…

    Epigenomics

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

    Photo

    A promising new breast cancer test

    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…

    Photo

    Breast screening in the Netherlands

    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…

    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…

    Photo

    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.

    Photo

    analytica 2008

    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.

    Subscribe to Newsletter