Search Results
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … purpose of this study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations … for significant impact on the fields of hematology and oncology because of the rare opportunity to monitor the …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division … Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric diseases and …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… 2. Setting up a contact We will need a point person and also want to talk with someone in your group who is familiar with the participant and can give us some basic information, like the participant's name and what language they speak, etc. … patient at the NIHCC (if he/she is not already registered) and enter an order in NHGRI Genomic Variant Confirmation …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders. … in a more typical medical genetics program; emphasizes clinical research, one of the few programs to do so; and grants access to the vast resources at the National …
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.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical Students Critical Care … Medical Genetics Medical Oncology Neuro-Oncology Neurology/Clinical Neuroscience … Hospitalist Medicine Pediatric Oncology Psychiatry/Clinical Neuroscience Psychiatry/Consultation-Liaison …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… of the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. … group uses a translational approach, integrating both clinical and basic sciences. Gaucher disease (GD), the …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual susceptibilities most … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional policies, …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… The Combined Pediatrics and Medical Genetics Residency Program is a remarkable … a combined, five-year residency program in pediatrics and medical genetics. … Combined residents gain broad experience in pediatrics, clinical and molecular genetics, metabolic diseases, and …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health History … Genetic testing is the use of a laboratory test to examine an …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic disorder. The body creates an enzyme called … in different tissues, leading to hematological, skeletal, and neurological manifestations seen in patients with Gaucher … coding for the enzyme glucocerebrosidase is called GBA1 and is located in chromosome 1. While there is only one gene …