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eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… interactive Q&A webinar for the eMERGE Genomic Risk Assessment and Management Network funding opportunities. … non-EA individuals during Year 1. … Do the proposed disease-specific genomic risk assessment and management plans … As an illustration, a patient at high risk of coronary disease might be identified by the genomic risk assessment. …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … new insights about genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry … role of molecular and biochemical events that can cause disease and, eventually, the development of diagnostic and …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of … fingers, and toes. … CMT is an inherited neurological disease characterized by a slowly progressive degeneration of …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … Africa. American trypanosomiasis. Commonly called Chagas disease, this disease is caused by a parasitic microbe … hanging nets around beds may help to prevent or reduce the risk of getting infected. For diseases transmitted by snails …
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.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. …
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 … can lead to organ damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in … disease are given lower doses of these drugs to reduce the risk of having a baby with birth defects. Lower doses also …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… conditions for which people with SCT are at increased risk. … The First Comprehensive Review They include pulmonary embolism , proteinuria and chronic kidney disease . Findings from this first comprehensive review of … for pulmonary embolism, proteinuria and chronic kidney disease. They also found a moderate level of evidence of …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of … Gaucher disease and Gaucher carriers have an increased risk of developing Parkinson disease and related disorders. … …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that typically … make up for it and that causes a condition or an increased risk of developing a condition. Each time we have a child we …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… common health conditions, information such as polygenic risk scores are not currently as accurate at predicting risk. Various direct-to-consumer companies are making these … Polygenic risk scores report an estimate of the measure of disease risk based on the predicted combined effects of small …