Search Results
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 … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. … is called "pharmacogenetics" and "pharmagenomics." For more information about Pharmacogenetics and …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and … and clinical decline in individuals with mitochondrial disease. … working with patients, and with families with a history of inherited diseases, to learn more about the genetic …
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 fewer than 200,000 people in the United … The exact cause for many rare diseases remains unknown. Still, for a … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or …
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 …
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 … disorders to learn more about the genetic causes of these inherited metabolic disorders and the medical complications …
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 …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. … of UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the … of Rare Diseases Research (ORDR) and the NIH Clinical Center to help provide diagnosis and treatment for patients …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Researchers at the National Human Genome Research Institute (NHGRI) and their collaborators are … the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations … Sidransky's lab, analyzed more than 200 individual mice for as long as two years. Also contributing to the study were …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare diseases. … one specialist to another trying to find the root cause for their family member's rare disorder. It is difficult to … importantly, many of these patient groups are accelerating research on rare diseases by recruiting patients with the …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's … Thalassemia is actually a group of inherited diseases of the blood that affect a person's … death. A child who inherits two copies of the mutated gene for beta thalassemia will have beta thalassemia disease. The …