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News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it is scarring … to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… clinical relevance or validity of genes in various genetic disorders for their use in precision medicine and research. … Resources … Genomics experts dispute nine genes linked to congenital heart condition … An expert panel from the …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… altered B cell function in children with mitochondrial disorders led to a weaker and less diverse antibody response … activity of immune cells in children with mitochondrial disorders and found that B cells, which produce antibodies to … in more than 350 genes have been linked to mitochondrial disorders with varied symptoms depending on which cells are …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers at the … questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic … diagnose genetic conditions that affect the skin. Genetic disorders are often rare and notoriously difficult to …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Diseases Network , had unusual and unclassified disorders. “Our objective was to see if any of the 2,560 … mutations in the UBA1 gene. … VEXAS syndrome, inflammatory disorders, ubiquitylation, Undiagnosed Disease Program, David …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be … 30 million people in the United States; collectively, rare disorders are not so rare. Often, these disorders can cause very severe medical challenges. Fewer …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… broadened the traits and symptoms associated with known disorders, and offered insights into newly described disorders. The study was published in the American Journal of … can work, especially for identifying people with rare disorders who otherwise might not have been brought to …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve … funds new effort to discover genetic causes of single-gene disorders … NIH will award nearly $80 million to support the …