Search Results
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the United … genome editing should be used to prevent or treat genetic disorders. … Patients, patient advocates, and families of patients with genetic disorders have diverse views on whether germline genome …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… learn more about the genetic components of common and rare disorders, and to develop new and more effective tests and … and Molecular Investigations into Ciliopathies Brain Disorders A Study of the Genetic Analysis of Brain Disorders Chediak-Higashi Syndrome Study of Chediak-Higashi …
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 Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… is an inherited disorder of blood clotting. … Genetic Disorders …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… fundamental mechanisms of inherited and acquired genetic disorders. … Clinical research is research conducted with … fundamental mechanisms of inherited and acquired genetic disorders. Their goals include both discovering the molecular … are working to uncover the genetic components of common disorders such as cancer, diabetes, and heart disease, as …
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.
… the development of new treatments for rare and neglected disorders. The NIH Office of Rare Diseases Research (ORDR) … rare diseases. Among the groups that span a broad range of disorders are the National Organization for Rare Diseases , …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… to genetic conditions. The National Organization for Rare Disorders (NORD) www.rarediseases.org NORD is a federation of … voluntary health organizations serving people with rare disorders. You can search their site or obtain a printed … diseases. ​ … Rare Diseases, Genetic Diseases, Genetic Disorders, Reliable Health Information … List of resources to …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… and treatments.​ ​ … Clinical Research, Genetic Disorders, Genetic Disease, Genetic Condition, Rare Disease, …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical medical … diseases in both inpatient and outpatient settings with disorders spanning the entire life span. The third year of …