Credit: CC0 Public Domain Working with researchers from Stanford University and St. Anna Children’s Cancer Research, researchers from Jürgen Pollheimer’s laboratory at the Medical University of Vienna’s Department of Obstetrics and Gynecology have now, for the first time, identified basic relationships of the cell cycle and cellular senescence in the human placenta. The main finding […]Continue Reading ...
Credit: CC0 Public Domain A drug treatment, already approved for use in patients, could offer new hope for some patients with brain bleeding and strokes. New research, led by the University of Glasgow and published today in Human Molecular Genetics, has shown that the compound sodium phenyl butyric acid could be used to reduce brain […]Continue Reading ...
Jack Kosmicki, PhD Candidate, Harvard University. Credit: Mr. Kosmicki In the largest genetic sequencing study of autism spectrum disorder (ASD) to date, researchers have identified 102 genes associated with ASD, and report significant progress toward teasing apart the genes associated with ASD from those associated with intellectual disability and developmental delay, conditions between which there […]Continue Reading ...
Credit: CC0 Public Domain A new form of therapy may halt or even reverse a form of progressive vision loss that, until now, has inevitably led to blindness. This hyper-targeted approach offers hope to individuals living with spinocerebellar ataxia type 7 (SCA7) and validates a new form of therapy with the potential to treat neurogenetic […]Continue Reading ...
Credit: CC0 Public Domain Do any genes protect against Alzheimer’s disease? And do any predispose a person to its ravages? The answer is yes to both, according to work led by U of M researcher Lisa James. Along with colleagues at the U and the Minneapolis VA Health Care System, James is laying the basis […]Continue Reading ...
Credit: CC0 Public Domain The Deciphering Developmental Disorders study has discovered that only a small fraction of rare, undiagnosed developmental disorders in the British Isles are caused by recessive genes. The study by researchers from the Wellcome Sanger Institute and their collaborators estimated that only five per cent of the patients had inherited a disease-causing […]Continue Reading ...
Credit: CC0 Public Domain Millions of American kids with attention-deficit/hyperactivity disorder (ADHD) may have a genetic vulnerability to the disease, a new study suggests. Researchers analyzed data from more than 55,000 individuals and identified 12 gene regions linked with ADHD. These regions probably affect the central nervous system, the study authors said. The discovery might […]Continue Reading ...
Credit: CC0 Public Domain Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The study, led by clinicians, researchers and collaborators of the Clinic for Special Children in Strasburg, PA, appears in Human Molecular Genetics. The report includes detailed clinical characterization of […]Continue Reading ...
Credit: CC0 Public Domain Scientists at the University of Manchester have this week published research, funded by the British Heart Foundation (BHF) which shows, for the first time, possible genetic causes of a serious congenital heart condition, Tetralogy of Fallot (ToF). People born with ToF have four specific structural abnormalities in the heart, which mean […]Continue Reading ...
Credit: CC0 Public Domain The largest study of genetic variation in patients with pulmonary arterial hypertension has associated two important genes with the disease. In collaboration with institutes from Europe and Northern America, researchers from Imperial College London have conducted the largest genetic analysis to date of 2,000 patients with pulmonary arterial hypertension (PAH) and […]Continue Reading ...
Mice help scientists uncover the mechanisms behind autism spectrum disorders and intellectual disability. Credit: IST Austria/Isabel Chew About 1 percent of patients diagnosed with autism spectrum disorder and intellectual disability have a mutation in a gene called SETD5. Scientists have now discovered what happens on a molecular level when the gene is mutated in mice, […]Continue Reading ...
A network of more than 200 genes encoding proteins with diverse cellular roles was revealed in a non-biased CRISPR screen for regulators of microexon splicing. Many of the genes have previously been linked to autism. Credit: Thomas Gonatopoulos-Pournatzis Donnelly Centre researchers have uncovered a genetic network linked to autism. The findings, described in the journal […]Continue Reading ...
Researchers and clinicians through a multicenter collaboration have identified a novel multisystem disorder caused by bi-allelic variants in the CCDC47 gene. Their findings are reported in the American Journal of Human Genetics. CCDC47 is responsible for encoding an essential calcium (Ca2+)-binding protein involved in embryogenesis and development. Calcium signaling is essential for various cellular processes […]Continue Reading ...
Lori Fullen sought genetic testing for her son Lorenzo after his epilepsy medications didn’t stop the frequent seizures. Credit: UT Southwestern Lori Fullen recalls waking to screams from her little boy’s room. She remembers rushing in and seeing the terror in his eyes, wondering if he was having recurring nightmares. She later realized the severity […]Continue Reading ...
Credit: CC0 Public Domain Studying the three-dimensional structure of DNA and its dynamics is revealing a lot of information about gene expression, expanding our knowledge of how cells, tissues and organs actually work in health and disease. Properly producing and managing this large amount of data is both challenging and necessary for the progress of […]Continue Reading ...
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