Search Results
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 … Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics … work as members of health care teams providing information and support to individuals or families who have genetic …
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 Genetics Residency Program exposes students to rare genetic …
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 … NHGRI-Related Resources …
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. …
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.
… NHGRI-Related Resources … 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 … will include panel discussions, webinars, Twitter chats and Q&As. Follow on Twitter: #MedGeneEd22 …
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. … inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment 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 … be done with the assistance of children that have ADHD and their families. By volunteering for this type of study, …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not … criteria, adapted from the National Library of Medicine's Genetics Home Reference . Analytical Validity: Refers to how …
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 …