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- 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
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… have assembled answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and … science of pharmacogenomics. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and … Health History, Pharmacogenomics, Undiagnosed Disease, Genetic Disease, Genetic Condition, Genetic Disorder, Genetic …
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. … …
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 … N. Bayesian model of disease progression in GNE myopathy. Statistics in Medicine ,  2019 Apr 15;38(8):1459-1474. [ …
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.
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… 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 …
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 …
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 …