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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
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… The JHU/NIH Genetic Counseling Training Program prepares students for a Master of Science degree (ScM) in Genetic Counseling from the Department of Health, Behavior … … This two and one-half year Accreditation Council for Genetic Counseling (ACGC)-accredited program provides …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… but they may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important … have been diagnosed with the disorder already and whether genetic testing has been performed in other relatives). In … We recommend talking to your metabolic specialist and/or genetic counselor to determine those relatives who may be at …
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 …
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. [ …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate … the researchers designed questions about 63 different genetic conditions. These included some well-known … cystic fibrosis and Marfan syndrome, as well as many rare genetic conditions. These conditions can show up in a variety …
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 …
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 …
News Release
The Genetics/Genomics Competency Center now includes a new section on pharmacogenetics and pharmacogenomics.
… … Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … resources around areas of core knowledge including: Basic genetic concepts Ethical, legal and social implications … G2C2 also provides online educational materials for genetic counselors, nurses and physician assistants. … A …