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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… yet know if a change in a microbial community leads to a disease or if a microbial community changes in response to the development of a disease. Researchers don’t yet know if a change in a … the vaginal microbiomes of pregnant women to gauge their risk for preterm birth, with a particular focus on …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… Although a role for genetics in the development of the disease has been supported, it is unclear whether this genetic risk mirrors that observed in adults (multiple genes all with … metabolic disturbances of kwashiorkor.   Sickle Cell Disease Alloimmunization  Sickle cell disease (SCD) is one …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last … year, exome sequencing identified the genetic cause of disease in about 25 percent of patients. The technique has … in a host of diseases, including Charcot-Marie-Tooth disease, mental disability, other neuropathies, metabolic …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… and Executive Director of the NIH Center for Inherited Disease Research (CIDR) , a trans-NIH program that provides … a scientific review officer for the Center for Inherited Disease Research (CIDR). … Barbara Thomas, genomic data sharing, Center for Inherited Disease Research (CIDR), peer review, grant applications … …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … to fewer white blood cells, which puts you at a higher risk of serious infection. After the chemotherapy, you will …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature … 4 million newborns worldwide. The most severe form of the disease is Hutchinson-Gilford progeria syndrome, recognizing …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in the United States have the disease. CF causes the body to produce thick, sticky mucus … a sample of blood or saliva - is to see if a couple is at risk for giving birth to a child with CF. Carrier testing is …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… anomalies and the impact of genetic and metabolic disease on healthy and high risk pregnancies. The four year training program is open only … a complementary training program in the genetic basis of disease, both adult and pediatric, including cytogenetic, …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… adjust well to dark and dimly lit environments. … As the disease progresses and more rod cells breakdown, patients … cells also comes disturbances in color perception. As the disease progresses, rod cells degenerate causing night … adolescents and young adults, with progression of the disease continuing throughout the individual's life. The …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… and clinical decline in individuals with mitochondrial disease. … Clinical studies give us a better understanding of … Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis Bardet-Biedl … People and in People With Skin Conditions Gaucher's Disease Genetic Studies of Lysosomal Storage Disorders …