Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Educational Resources
Crossing over is the swapping of genetic material that occurs in the germ line.
… Crossing Over … Crossing over is the swapping of genetic material that occurs in the germ line. … Genetic Material, Chromosomes, Meiosis, DNA Sequences, Genetic Variation, Germ Line … Crossing over, as related to …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… Gene Pool … A gene pool is the total genetic diversity found within a population or a species. … Genetic Diversity, Genes, Extinction, Population Genetics … A … with environmental challenges. … A gene pool is the total genetic diversity found within a population or a species. … …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with ADHD. Research has shown that ADHD can have a genetic basis, which means that it is likely that a person … ADHD, Attention Span, Autism, Neurological Disorder, Genetic Disorder, Genetic Condition, Gene Mutation … Attention Deficit …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
​
… Finding accurate and reliable information on genetic and rare diseases among the millions of online … articles that interest you. Internet Credibility Help from Genetic Alliance The Access To Credible Genetics (ATCG) … in the creation of new quality educational materials about genetic conditions. www.trustortrash.org For people who want …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… History Study of Patients with GNE Myopathy collects genetic and medical information from people with GNE … trials. … GNE Myopathy is a rare ( autosomal recessive ) genetic disorder that causes progressive skeletal muscle …  as a therapy for GNE Myopathy. … This study collects genetic and medical information from people with GNE Myopathy …
Educational Resources
Deletion is a type of mutation involving the loss of genetic material.
… … Deletion is a type of mutation involving the loss of genetic material. … Genetic Mutation, Base Pair, DNA, Chromosome … A deletion, as … … Deletion is a type of mutation involving the loss of genetic material. … Educational Resources …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… backgrounds, about 1 in 200 has FMF. The availability of genetic testing has helped identify numerous cases among … of them are very common in the patients of Middle Eastern ancestry. … In making a diagnosis of Familial Mediterranean … in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in establishing a correct …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… find a mutation in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy … presumed, mutations that would almost certainly lead to a genetic condition. … Out of almost 1,000 volunteers whose … that 34 had the specific condition linked to their genetic mutation. These findings indicate that 3 percent or …
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
… Katie L. Lewis, Sc.M., C.G.C. … Katie Lewis is a genetic counselor in the Genomic Services Research Program (GSRP). She got her degree in genetic counseling from the Johns Hopkins University/National … and Related Disorders. She has worked at the NIH as a genetic counselor for eight years. Katie does research on …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the … germline genome editing should be used to prevent or treat genetic disorders. … Patients, patient advocates, and families of patients with genetic disorders have diverse views on whether germline …