Please see also specific disorder or condition in the alphabetical listings.
  • Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
  • Genetic and Rare Conditions Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
  • Genetic Diseases Provides information on a number of genetic and rare diseases.
  • Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
  • IMMD Institute of Medical Molecular Diagnostics Ltd. The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
  • Information on Trisomy 13 Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
  • MECP2 Duplication Syndrome Provides information and support for families affected by this genetic condition first discovered in 2005.
  • Mitoblog Blog about mitochondrial disease.
  • Primary Ciliary Dyskinesia Information on a rare congenital disease.
  • The Center For Jewish Genetics Disorders A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.
  • What Malformation Did El Greco Paint? El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
  • XLH Network Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
  • Your Genes, Your Health The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.

Media publications

  • New Scientist: Heroin Addiction Gene Identified and Blocked Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug. (Published 2005-05-31 00:00:00)
  • Who was Peter the Wild Boy? The BBC reports that on Peter, who had been found living alone and naked in a German forest in 1725, was brought to London by George I where he became a ‘human pet’ at Kensington Palace. In 2011 his cases was retrospectively diagnosed as Pitt-Hopkins. (Published 2011-08-08 00:00:00)

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