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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 …
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
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 , …
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 …