Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
MINC
The MINC teams were made up of an administrator and an educator. They learned a lot from this initiative that they wanted to share with you.
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Genetics Home Reference: F5 gene The American Heart Association The National Heart, Lung, and Blood Institute The …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… three recognized Types of Gaucher disease and each has a wide range of symptoms. Type 1 is the most common, does not … at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. … the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health Information …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline. A … is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet. The two main …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… option when searching for a diagnosis. Some research studies look at general categories of diseases and will … to make a diagnosis. Alternatively, clinical trials or studies may be looking at the effectiveness of medications to … the public with current information on clinical research studies. For example, the study entitled "Studies of Children …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. Once the database … and Metabolic Genetics Branch at NIH's National Human Genome Research Institute (NHGRI). "Our goal is to determine … program. Participating NIH institutes will each contribute genome and exome sequences from existing research programs to …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… option when searching for a diagnosis. Some research studies look at general categories of diseases and will … of making a diagnosis. Alternatively, clinical trials or studies may be looking at the effectiveness of medications to … the public with current information on clinical research studies. For example, the study entitled "Studies of Children …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… to the work were researchers from the National Human Genome Research Institute (NHGRI), the National Institute of … for development of new therapies for patients with a wide range of inflammatory diseases." This study together … Additional information about NHGRI can be found at: www.genome.gov . NIAID conducts and supports research at NIH, …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study inheritance patterns in families, including genetic studies of onset age, inheritance patterns and markers found within families. These studies may shed additional light on how HD is passed from …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… Prabarna Ganguly, Ph.D. … Researchers at the National Human Genome Research Institute (NHGRI) have developed a new … to resolve this issue, but with several constraints. Most studies on improving family health history information are … risk assessment … Researchers at the National Human Genome Research Institute (NHGRI) have developed a new …