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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
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
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.
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira … fit for me, and I was hoping to help patients with rare disorders. … Soo: What was it like growing up in Paraguay? … genomics unit? Ferreira: We study specific rare skeletal disorders, and we have a few different goals. We’re trying to …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… the clinical relevance or validity of genes in genetic disorders for use in precision medicine and research. A … genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes patients to … Research Genomics experts dispute nine genes linked to congenital heart condition Notable accomplishments in genomic …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… efficacy of gene therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), propionic … Shapira Award from the Society for Inherited Metabolic Disorders in 2007, the Charles J. Epstein Trainee Research … genome editing, and mRNA therapy, to cure rare genetic disorders. The primary focus of his research has been to …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis Tenney et al. Nature Genetics . 2023 Jun;55, 1149–1163 PMC10335940 Hereditary congenital facial paresis type 1 (HCFP1) is rare disorder in …
Event
NHGRI will host a director's research seminar by Matt Hurles, Director of the Wellcome Trust Sanger Institute on October 30, 2023.
… Research Seminar, titled "Deciphering Developmental Disorders," by Matthew Hurles, FMedSci, FRS. Matthew Hurles … on deciphering the genetic causes of severe developmental disorders, and understanding how DNA mutates as it is passed …