Search Results
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… Condition, Genetic Disorder, Genetic Counseling, Genetic Testing, Rare Disease … FAQs about genetic disorders, the …
News Release
NHGRI hosts a Reddit "Ask Me Anything" about using virtual reality to study a host of questions about the human genome.
… VR, Susan Persky Ph.D., Immersive Virtual Environment Testing Area, IVETA, VR and patient interaction training, …
Clinical Research
A study for patients with unexpected genetic results
… heart disease, and other conditions after having genetic testing done for some other reason. … The Genomic Services … is a study of people with "secondary results” from genetic testing. Secondary results are unexpected. They are not … the second phase of the study, which could include extra testing for you and/or your family members at the NIH or in …
Educational Resources
Western blotting is a laboratory technique used to detect a specific protein in a blood or tissue sample.
… technique used to detect a specific protein in a blood or tissue sample. … Electrophoresis, Protein, Antibody, … technique used to detect a specific protein in a blood or tissue sample. The method involves using gel …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… or by serving alongside diabetics to detect their low blood sugar. Now, an oncogene shared by dogs and humans points to …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… the islets fail to produce sufficient insulin to control blood sugar, which is why understanding the basic biology of … much sugar circulating in the bloodstream. Prolonged high blood sugar levels can lead to heart disease, kidney disease …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… diagnosed with the disorder already and whether genetic testing has been performed in other relatives). In some … patients with IEM may include elevated acid levels in the blood, low blood sugar, high blood ammonia, abnormal liver function tests, and …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… are working. What are we not trying to do? We are not testing any new medication or procedure to treat or cure MMA. … parameters, such as MMA and/or homocysteine levels in the blood and/or urine, and clinical history. Dr. Venditti will … collection to examine for methylmalonic acid, other acids, sugar and proteins to measure kidney function. Blood tests to …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… 90,000 samples of maternal plasma, the liquid portion of blood after all cells have been removed. Of these samples, …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… participating in genetics research or undergoing genetic testing will lead to being discriminated against based on … individuals or their family members to undergo genetic testing or to provide genetic information. As defined in the … that collect employees' biometric data (e.g. weight, blood pressure, cholesterol levels) and use this information …