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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… is a board-certified pediatrician, clinical geneticist and medical biochemical geneticist, and is currently an associate investigator at NHGRI. After his early pediatrics training at the University of Iowa and genetics training at Baylor College of Medicine, Dr. …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… work as members of health care teams providing information and support to individuals or families who have genetic … disorders or may be at risk for inherited conditions. … Genetics professionals are health care professionals with … disease or disorder. A medical geneticist has completed a fellowship or has other advanced training in medical …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… The National Human Genome Research Institute (NHGRI) offers a three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders. … The Medical …
Event
The National Human Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021, that focuses on healthcare provider genomics education.
… of Colleges of Pharmacy (AAFP) American College of Medical Genetics and Genomics (ACMG) American Board of Medical Genetics and … Networks (NCC) National Society of Genetic Counselors NHGRI/NIH NIH/NCATS Nursing academia, National Association …
Event
The National Human Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021, that focuses on healthcare provider genomics education.
… Toolkit … NHGRI-Related Resources … Genomics is becoming an … but healthcare providers may not be aware of the genomics education resources available. The National Human Genome Research Institute and its partners are organizing a social media campaign from …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means comprehensive. … A genetic disorder is a …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… Bay University) in 1985. She earned her Ph.D. in Human Genetics from the Medical College of Virginia (now called … University) in 1990. Her doctoral thesis was "Biochemical and Immunological Characterization of Serum Biotinidase in … of the Genetics and Proteomics Core Facilities. She joined NHGRI in 2003. She was the deputy director of the Medical …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… in the future. … ADHD often appears to run in families, and research studies have suggested that there may be a … goals of this study is to facilitate the diagnosis of ADHD and the development of improved treatments, possibly … By Mail: Research Coordinator/ADHD Genetic Research Study NHGRI / NIH Building 10, Room 10C103 10 Center Drive …
Staff
Dr. Belen Hurle is an associate investigator in NHGRI's Division of Intramural Research, an educational outreach specialist in the Education and Community Involvement Branch and a training program coordinator in the Intramural Training Office.
… develops models of public engagement related to genomics, genetics and public health. Specifically, she identifies target … education programs and develops partnerships between the NHGRI and communities of interest. Dr. Hurle joined the NHGRI …