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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 trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… The JHU/NIH Genetic Counseling Training Program trains students to … social, behavior and policy research in the field of genetic counseling and provides clinical rotations for students to learn directly about genetic conditions, their impact on individuals and their …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral populations. “By mainly focusing on European-ancestry populations, we may have missed genomic variants … the health of all people,” says Cashell Jaquish, Ph.D., a genetic epidemiologist and program officer within the … of Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… new molecules involved in diabetes. … In a new large-scale genetic analysis, scientists have found a set of small RNA … author of the study. … About NHGRI and NIH … Large-scale genetic analysis shows microRNAs in human pancreas associated with diabetes … In a new large-scale genetic analysis, National Institutes of Health (NIH) …
Careers and Training
Frequently Asked Questions about the Genetic Counseling Training Program.
… August 21, 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing … you on the current needs and challenges associated with genetic counseling while we plan to launch a new effort to … . The following questions about the JHU/NIH Genetic Counseling Training Program (GCTP) below cover …
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 …
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.
… 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 …