Search Results
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.
… Medical Students Critical Care Medicine Endocrinology and Metabolism Health Services Hematology Hepatology Infectious … … To further its mission to train the next generation of physician-scientists and clinician-investigators, the NIH Clinical Center - through the Office of Clinical Research Training and Medical Education - offers …
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.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics … Dietary Determinates of Outcomes in Purine and Pyrimidine Metabolism Disorders P127 Where Epigenetics, Cancer and …
File
… OO , Okunola O , Alli O . Genetics Section - ‘Types of Inheritance’, ‘Autosomal Inheritance’, ‘Diagnosis of … Pr evalence and Carrier Frequency of Autosomal Recessive Inborn Errors of Metabolism in India from Publicly Available Next …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… (JCVI) as a bioinformatics engineer under the supervision of Dr. Granger Sutton. During his three years at JCVI, he … on top of each other, and leads to both data loss and errors in analysis. To mitigate these issues, the first step … of previously invisible human genomic regions, corrected errors in the current reference, and led to the first truly …
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.
… The NIH Metabolism, Infection and Immunity (MINI) Section invites … the Post COVID-19 Vaccine Registry . … The purpose of this registry is to better understand the side effects and … bearing on your relationship with the National Institutes of Health. We will present and publish the aggregate survey …
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
… by cells to metabolize glucose, the body's main source of chemical energy. Type I diabetes, also called … mellitus, is usually caused by an autoimmune destruction of insulin-producing cells. Type II diabetes, also called … occurs when cells become resistant to the effects of insulin. … Diabetes mellitus is a disease characterized by …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… In collaboration with the UMDF, the NIH Metabolism, Infection and Immunity (MINI) Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
… milestones over the last 20 years. Check out one of those milestones - of great pride for genomicists - about 20 seconds into the … Charles Rotimi, were elected  into the National Academy of Medicine. All the best, … NHGRI has released a notice …
Educational Resources
A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
… Line, Gene … A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during cell division, exposure to …
Infographic
An infographic that explains why we need a new human pangenome reference.
… sequence has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only reflected data generated from about 20 people. Most of that first human genome reference sequence was just from …