Search Results
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… research on the use of DNA biorepositories and electronic medical records (EMRs) to better understand the underlying … The papers, which appear in the journal Frontiers in Genetics , were co-authored by members of the Electronic Medical Records and Genomics (eMERGE) Network. eMERGE is …
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.
… working towards creating a model system for diagnosing medical mysteries. The network's goals? Accelerate the … brought insights how to best diagnose hard to define medical cases. This type of work requires doctors to gather … the online version of the American Journal of Human Genetics. Related Resources The Undiagnosed Diseases Network: …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… Many "medical foods" are designed to help manage patients with rare … which may in turn result in the need to reformulate some medical foods. In two studies appearing online August 13, 2015 and in the August issue of Genetics in Medicine , the researchers note that medical …
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
… The Electronic Medical Records and Genomics (eMERGE) Network is a National … of Health (NIH)-organized and funded consortium of U.S. medical research institutions. The Network brings together … informatics, and clinical medicine from leading U.S. medical research institutions to conduct research in genomics …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… of the National Human Genome Research Institute's (NHGRI) Medical Genomics and Metabolic Genetics Branch. But even with the information gathered … without its challenges. With more genomic advances in the medical arena comes a wider gap in training scientists and …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – … Neurodegenerative Disorders P204 Primary Care Electronic Medical Record Features Predicting Genetics Referrals P224 Using long-read sequencing for …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… DNA for variations, typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a genetic test can be used to …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… a healthcare provider with specialized knowledge of genetics and an individual or family. … family, helps them make an informed decision about their medical situation and provides psychological counseling to … a healthcare provider with specialized knowledge of genetics and an individual or family. …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.