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- 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
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… of any specific tests and products by the National Human Genome Research Institute or the Office of Rare Diseases at … discuss treatment may be about many different types of studies that are conducted in humans. Some of the more common … jargon. NHGRI Talking Glossary of Genetic Terms www.genome.gov/Glossary The NHGRI Talking Glossary of Genetic …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… … ADPKD can be diagnosed using ultrasound, CT scan or MRI studies of the kidneys. The diagnostic criteria for … failure, they need to have dialysis or a renal transplant. Studies have shown that individuals with ADPKD do better on …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… who have Noonan syndrome have normal chromosome studies. Four genes - PTPN11, SOS1, RADF1 and KRAS - are the …
For Patients and Families
A list of resources and information on financial aid for medical treatment.
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… of any specific tests and products by the National Human Genome Research Institute or the Office of Rare Diseases … Washington DC, 20005 Phone: 202-347-8009 Fax: 202-347-5579 Association of Maternal and Child Health Programs E-mail: … the public with current information on clinical research studies. To find clinical trials, click on the link below and …
Healthcare Provider Genomics Education Resource
This FAQ was designed to answer questions regarding how nurses integrate genomics into their education and practice.
… DC … Brenda Cowen, DNP, APNP, CNS, CPNP-PC Neurology Association of Child Neurology Nurses (ACNN) Liaison … Messersmith, Ph.D. ISCC-PEG Co-Chair National Human Genome Research Institute National Institutes of Health … Institutes of Health, Special Volunteer-National Human Genome Research Institute Indianapolis, IN … Authors … …
Health
The Family Health History Group connects stakeholders, researchers, and thought leaders to share learning, understand barriers in depth, and discuss issues and potential solutions related to the collection of family health history information.
… Jacoby Morris, Ph.D. Education Specialist National Human Genome Research Institute National Institutes of Health Muin … Ph.D. Provider Education Specialist National Human Genome Research Institute National Institutes of Health Lori …
Healthcare Provider Genomics Education Resource
Discipline-specific genomic competencies are knowledge and skills that a provider needs in order to perform specific functions in genomic healthcare. Competency-based healthcare education is an outcomes-based approach that uses competencies to organize and structure curricula and continuing education.
… as a genetic counselor. Medical School Education 2022 Association of Professors of Human and Medical Genetics … and behaviors required in medical practice across a wide range of specialties. Nurses: All The Essentials of …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… on Trimethylaminuria Currently, NHGRI is not conducting studies on Trimeththylaminuria. Current NHGRI Clinical Studies Search ClinicalTrials.gov [clinicaltrials.gov] …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… testing includes blood testing of cholesterol levels, studies of heart function, and genetic testing. Blood testing … mg/dl in children) and LDL levels usually above 200 mg/dl. Studies of heart function, such as a stress test, may be … Medline Plus What is Cholesterol? American Heart Association - Cholesterol National Organization for Rare …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… Registry: Myotonic Dystrophy Type 2 Muscular Dystrophy Association: Myotonic Dystrophy (DM) GARD: Myotonic Dystrophy …