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Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… two goals: To provide answers to patients with mysterious conditions that have long eluded diagnosis To advance medical … of the Undiagnosed Diseases Network. … Individuals whose conditions have eluded medical diagnoses may apply to become … Program provide answers to patients with mysterious conditions that have long eluded diagnosis. … Rare Disease, …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… who have genetic disorders or may be at risk for inherited conditions. … Genetics professionals are health care … who have genetic disorders or may be at risk for inherited conditions. Genetic professionals: Assess the risk of a … who have genetic disorders or may be at risk for inherited conditions. … Genetic Counseling, Medical Genetics, Genetic …
Policies and Guidance
NHGRI is committed to maintaining a work environment that is courteous, respectful, and free from harassing behaviors for its employees, contractors, volunteers, interns and visitors.Â
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… people who have WAGR syndrome have two or more of these conditions. Also, people can have WAGR syndrome, but not have all of the above conditions. Other names for WAGR syndrome that are used are: … symptoms of WAGR syndrome may also include: Developmental, behavioral, and/or psychiatric disorders including autism, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… health history is a record of the diseases and health conditions in your family. Knowing the health history of your … may be at increased risk of developing particular conditions. … Healthcare professionals determine whether … may be at increased risk of developing particular conditions. … Health …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… NHGRI Division of Intramural Research in its Social and Behavioral Research Branch , heading the new Engagement …