Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… Free CAT scan to detect coronary artery disease. Finding gene changes that are important to your health and/or the … LG. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing … by analysis of massively parallel sequencing data sets. Gene Med , 2015. [In Press] Amendola LM, Dorschner MO, …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… form of muscular dystrophy caused by a mutation in the DMD gene. … DMD is a rapidly progressive form of muscular … in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene that can be inherited in families … and PTC124 (see clinical research below). Physical therapy is used to promote mobility and prevent contractures. …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… and rare diseases … Genetic Disease, Rare Disease, Gene Therapy, Diagnosing A Disease, DNA Sequence, Genome Sequence, …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… researchers have played key roles in a number of important gene discoveries, including the identification of genes … mouse with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… National Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, … that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel … The researchers found that harmful variants in the CECR1 gene impede production of a protein vital to the integrity of …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… unlike some illnesses, which are determined by a single gene, ADHD is not easily pinned down. Many common but subtle …
News Release
Researchers are asking if the precision medicine approach will reduce or eliminate the role that race plays in prescribing drugs and in health care overall.
… overall. … Precision medicine, drug prescribing, drug therapy, Vence Bonham, longitudinal drug studies, drug …
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… below, the two-part documentary, “Ken Burns Presents The Gene: An Intimate History ,” will debut on PBS stations on … with the new PBS documentary, “Ken Burns Presents The Gene: An Intimate History ,” based on the book by Siddhartha … begins Genomic study points to natural origin of COVID-19 Gene mutation enhances cognitive flexibility in mice, NIH …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… between diabetes and previously unlinked ZRANB3 gene. … National Institute of Health researchers have … confirmed known genomic variants and identified a novel gene ZRANB3 , which may influence susceptibility to the disease in sub-Saharan African populations. The gene could also influence the development of T2D in other …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… They found that Rohith had a mutation in both copies of a gene involved in a process that affects protein function …