Search Results
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the … adjust well to dark and dimly lit environments. … As the disease progresses and more rod cells breakdown, patients … disease or Kearns-Sayre syndrome. … There is no known cure for retinitis pigmentosa. However, there are few treatment …
FAQ
Frequently asked questions on the webinar for the Diversity Centers for Genome Research funding opportunity announcements (FOAs): (RFA-HG-22-026 and RFA-HG-22-027.
… Serving Institutions eligible to apply?  To be eligible for the either RFA, applicant institution must be a domestic … of health information should be integrated into the Center’s data sharing plan.  Budgets should include any … projects? Do all the research projects have to be in one disease area  The Centers should have 2-3 inter-related …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… working with patients, and with families with a history of inherited diseases, to learn more about the genetic … … The following are conducted by NHGRI researchers. For eligibility requirements and contact information, visit … ​ … Clinical Research, Genetics Research, NIH Clinical Center, Genome Sequencing, DNA Sequencing, Treating Genetic …
Staff
Dr. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health.
… Karlijn A.C. Meeks, Ph.D. … Karlijn A.C. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health (CRGGH). She …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … at the University of Virginia Cardiovascular Research Center and the University of Virginia Center for Public …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… about the genetic causes of the various types of these inherited metabolic disorders and the medical complications … ill, sometimes with little warning. There is no cure for any type of MMA, but special diets, vitamin therapies and … Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each year for 5 …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… genes. But doctors have struggled to know which of these inherited differences - variants - really matter. … For the vast majority of the more than 80 million variants … in the context of particular diseases. ClinGen projects center on developing processes and procedures to answer three …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… The network builds on a program at the NIH Clinical Center in Bethesda, Md., that for the past six years has evaluated hundreds of patients and … 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects … 25 million to 30 million Americans. … The exact cause for many rare diseases remains unknown. Still, for a … ). Single genes are also responsible for some rare, inherited types of cancer. Examples of these are the BRCA1 …