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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … Branch . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Facial recognition software helps diagnose rare genetic disease …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in 2002 by … Genetic and Rare Diseases Information Center … The Genetic and Rare Diseases Information Center helps people …
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 … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … Treating Children and Adolescents National Digestive Diseases Information Clearinghouse Inflammatory Bowel Disease … Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… Since accepting its first patient in 2015, the Undiagnosed Diseases Network (UDN) has been working towards creating a model system for diagnosing medical mysteries. The network's goals? Accelerate … the diagnosis of rare or previously unrecognized diseases; improve clinical management of these disorders; and …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… physicians to diagnose, manage and counsel patients with genetic disorders. … Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical … experience in clinical and molecular genetics, metabolic diseases and cytogenetics. M.D. candidates must have …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… is ending diagnostic odysseys for patients with rare diseases. … diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … disease. Copper content of the liver is also measured. Genetic testing is frequently used to help diagnose Wilson …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … Genetic tests may be used to identify increased risks of … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease Identify gene … or manage your health. Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a …