Useful sites to assist you with background reading about genetics and help identify resources relating medical genetics.
NHS Genomics Education Programme
If the answer to any of the following questions is yes there will be some useful information and resources for you at this website.
- Are you learning or teaching human genetics?
- Are you are in clinical practice and planning to communicate genetic information?
- Do you want to access e-learning resources or a free image library?
- Do you want to know what the expected standards are for understanding genetics by healthcare professionals?
Online Mendelian Inheritance in Man (OMIM)
This is a curated and regularly updated database of all Mendelian disorders. It describes about 4,000 individual diseases.
Each OMIM entry has its own specific number linked to a disease and associated gene variants. Standard nomenclature is used that is congruent with that used by the Human Genome Organisation.
The research that led to the identification of key genetic variants, many of which will be kindred-specific or private mutations, is comprehensively described.
Genetics Home Reference
This is a simpler database than OMIM. It lists and describes about 1000 traits including common monogenic disorders and is curated by the United States’ National Library of Medicine. It also has a useful educational handbook.
Human Genome Project
Educational pages about the Human Genome Project are curated by the United States’ National Genetic Research Institute.
The CDC Office of Public Health Genomics
The U.S. CDC Office of Public Health Genomics provides information for the translation of genomics research into population health benefits. In the What’s New section there is a weekly summary of genomics & health impact information.
The Public Health Genetics (phg) Foundation and Clinical Champions
This is the website for a health policy think-tank with a focus on how genetic medicine and new technologies can have an impact on public health. It presents resources for education, research, and policy development in the field of human genomics.
The Clinical champions initiative has been developed by the phg Foundation; it has produced a series of expertly- curated-factsheets about genomic medicine. Each factsheet is tailored to particular clinical specialties, e.g. cardiology, endocrinology, general practice, et cetera.