Germline cancer-predisposition variants (CPVs) can be helpful in predicting risk in some pediatric cancers. However, CPV risk association in children with rhabdomyosarcoma has not been well studi...
https://medicalxpress.com/news/2024-03-cancer-predisposition-variants-adverse-outcomes.html
Using data from four studies that connect genetic variants to lifespan, scientists have developed 11 different polygenic longevity scores (PLS) that predict both long life and resilience to some ...
https://medicalxpress.com/news/2024-03-longevity-scores-resilience-diseases.html
A team led by researchers at Weill Cornell Medicine has identified important drivers of the transformation of a type of blood cancer called follicular lymphoma from a slow-growing form to the agg...
https://medicalxpress.com/news/2024-03-discovery-strategy-follicular-lymphoma.html
An international team of researchers has found that the amount of protein consumed by pregnant women can impact the facial development of their offspring. In their study, published in the journal...
https://medicalxpress.com/news/2024-03-amount-protein-consumed-pregnant-women.html
A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and sa...
https://medicalxpress.com/news/2024-03-genomic-rare-genetic-diseases.html
Regulators of gene expression are thought to play an outsized role in disorders from cancers to heart disease. But how exactly do variations in gene regulation translate into a disease's biology?
https://medicalxpress.com/news/2024-03-scientists-closer-pulmonary-fibrosis-genetics.html
Researchers at the University of Cambridge have created the world's largest catalogue of human breast cells, which has revealed early cell changes in healthy carriers of BRCA1 and BRCA2 gene muta...
https://medicalxpress.com/news/2024-03-exhausted-immune-cells-healthy-women.html
Although the vast majority of clinicians do not view atrial fibrillation (AF) as a genetic disorder, a White Paper in the Canadian Journal of Cardiology analyzes the current understanding of gene...
https://medicalxpress.com/news/2024-03-genetic-patients-atrial-fibrillation-clinicians.html
Recently, the research findings of the team led by CAS Academician Xiang Zhou from Wuhan University were published in the National Science Review. The team successfully developed an efficient tec...
https://medicalxpress.com/news/2024-03-revealing-characteristics-circulating-cell-free.html
An analysis of how brains with different forms of autism develop has revealed common underlying mechanisms that may respond to existing medications.
https://medicalxpress.com/news/2024-03-autism-mechanism-drugs.html
People with specific genetic traits and those who have anxiety or depression have a significantly higher heart attack risk during periods of social or political stress than at other times, accord...
https://medicalxpress.com/news/2024-03-genes-heart-high-stress.html
Persons with a higher genetic risk of obesity need to work out harder than those of moderate or low genetic risk to avoid becoming obese, according to a Vanderbilt University Medical Center (VUMC...
https://medicalxpress.com/news/2024-03-higher-genetic-obesity-harder-results.html
Take a puff of nicotine for the first time, and your DNA plays an important role, alongside social and environmental factors, in shaping what happens next.
Drug targets with human genetic evidence are more likely than those without to be clinically translatable and thus enter phase II/III clinical trials or be approved for marketing more quickly, wh...
https://medicalxpress.com/news/2024-03-drug-advances-beneficial-loss-function.html
Researchers have uncovered two novel gene mutations that may be responsible for a rare blood disorder. The mutations are found on the GNE gene and impact an enzyme, also called GNE, that is invol...
https://medicalxpress.com/news/2024-03-mutations-rare-blood-disorder.html
Researchers at Weill Cornell Medicine have discovered a protein called SEL1L that plays a critical role in clearing collagen from tissue, and that may be a therapeutic target to help prevent fibr...
https://medicalxpress.com/news/2024-03-protein-sensor-plays-role-lung.html
Brain development is a highly orchestrated process involving numerous parallel and sequential steps. Many of these steps depend on the activation of specific genes. A team led by Christian Mayer ...
https://medicalxpress.com/news/2024-03-developmental-crossroads-brain-proteins-nerve.html
A new study has shown that risk scores based on our genes and gut bacteria can improve the prediction of diseases such as type 2 diabetes and prostate cancer over traditional risk factors alone.
https://medicalxpress.com/news/2024-03-genes-gut-bacteria-early-diseases.html
A research team from the Paul-Ehrlich-Institut has gained important insights into the role of the human guanylate-binding protein 1 (GBP1) in hepatitis C virus infection. Their results show that ...
https://medicalxpress.com/news/2024-03-hepatitis-virus-infection-team-protein.html
Acute lymphoblastic leukemia (ALL), the most common childhood cancer, disproportionately affects children of Hispanic/Latino origin in the United States. They are 30–40% more likely to get ALL ...
https://medicalxpress.com/news/2024-03-genetic-variant-contributing-disparities-childhood.html
Nasopharyngeal carcinoma (or NPC) is a rare type of cancer affecting the epithelial tissue of the nasopharynx, the upper part of the throat behind the nasal cavity. Among the three main subtypes ...
https://medicalxpress.com/news/2024-03-unravel-mechanisms-epstein-barr-virus.html
To what extent are exceptional human achievements influenced by genetic factors? This question, dating back to the early days of human genetics, seems to be easier to address today as modern mole...
https://medicalxpress.com/news/2024-03-music-genomes-beethoven-genes.html
University of Queensland researchers have developed a method to predict if a child is likely to develop sepsis and go into organ failure.
https://medicalxpress.com/news/2024-03-blood-analysis-sepsis-failure-children.html
The central dogma proposed that genetic information predominantly transfers from DNA to RNA during gene expression to make a functional product protein. This absolute theory has been debunked bec...
https://medicalxpress.com/news/2024-03-epigenetics-critical-importance-autoimmune-skin.html
Brazilian and American researchers have identified 87 genes linked to alterations in blood pressure and 144 others associated with variations in heart rate. The findings, published in the journal...
https://medicalxpress.com/news/2024-03-rodents-key-genes-blood-pressure.html
Researchers at the USC Leonard Davis School of Gerontology have discovered a genetic mutation in a small mitochondrial protein that may promote longevity, preserve cognitive function, and protect...
https://medicalxpress.com/news/2024-03-newly-beneficial-mutation-mitochondrial-dna.html
A gene associated with colorectal cancer appears to also play a role in the development of other solid tumors, according to a study of over 350,000 patient biopsy samples conducted by researchers...
https://medicalxpress.com/news/2024-03-colorectal-cancer-gene-implicated-broad.html
The U.S. Food and Drug Administration has approved Orchard Therapeutics' Lenmeldy (atidarsagene autotemcel) as the first gene therapy for the treatment of children with metachromatic leukodystrop...
https://medicalxpress.com/news/2024-03-gene-therapy-children-metachromatic-leukodystrophy.html
New research from scientists at the Wu Tsai Neurosciences Institute at Stanford University has identified a key driver of myelination, the formation of protective fatty sheaths around nerve fiber...
https://medicalxpress.com/news/2024-03-scientists-key-driver-myelin.html
Research by Victor Ambros, Ph.D., provides new insights into a recently identified class of neurodevelopmental disorders called Argonaute syndromes. Dr. Ambros and colleagues believe their Procee...
https://medicalxpress.com/news/2024-03-reveals-argonaute-syndromes-class-neurodevelopmental.html