Search Results
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… Diseases Program (UDP) and the NHGRI Office of the Clinical Director. After completing his M.D. and Ph.D. (under … Program at its founding in 2008, became deputy director of clinical genomics in the UDP and the NHGRI Office of the Clinical Director in 2014, NHGRI associate investigator in …
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
… genomics field have slowly started to find applications in clinical care. The field of "genomic medicine" could … into the electronic medical record (EMR) and provide clinical decision support (CDS) for implementation of appropriate interventions or clinical advice. The sites will work together to develop new …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… and management plans need to be proven via randomized clinical trials or are interventions with other levels of evidence allowed? Randomized clinical trial evidence is not required; other resources … risk assessment and management plan will be done in a Clinical Laboratory Improvement Amendments (CLIA) environment …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… eMERGE Network will support multiple clinical sites and a coordinating center with $75 million … for diverse populations and to integrate their use in clinical care. The eMERGE Network is supported by the … eMERGE Network  to support both a coordinating center and clinical sites specifically focused on better understanding …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD. It is open to residents and clinical fellows enrolled in ACGME-accredited training … and management of investigational protocols, including clinical trials. … Become familiar with fundamental concepts in clinical genetics Learn about genomic sequencing and …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… approaches for the integration of genomic discoveries into clinical and community contexts. … through using animal models to explore these connections. Clinical translation of genomic discovery We approach clinical translation through several methods. We consider the …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and … The use of genome sequencing in medical research and clinical practice has become more common in recent years, but … 60 expert panels, which have collected and archived the clinical impact of thousands of genes and genomic variants. …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of … physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of greater than 2000 … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center initially in 2008. The UDN was funded by the … are considered undiagnosed and are of interest to this clinical research program. Thirty to thirty-five percent of … >30 Percentage of cases resolved with a either a clinical, molecular or biochemical diagnosis: 25-50% Range in …