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New resource for parents on genetic disorders


Parents of children with a genetic disorder often turn to their pediatrician for information and support. You do your best, but an information source you can recommend with confidence would be a great help in these situations. Now the National Institutes of Health has created a Web site that fills the bill. Parents can find this site, Genetics Home Reference, on the World Wide Web at http://ghr.nlm.nih.gov/. It's packed with reliable, up-to-date, understandable information about basic genetics and genetic disease. The site is particularly strong on explaining to new parents the rationale for the screening their newborn has undergone at the hospital and providing information on conditions the screening may have uncovered.

The new initiative is the product of partnership between two government agencies, the National Library of Medicine (NLM) and the National Institute of Child Health and Development (NICHD), with the American Academy of Pediatrics (AAP), the American Academy of Family Physicians (AAFP), the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG). Parents who access the site can find authoritative, user-friendly, commercial-free information on 500 genetic conditions and related genes: from Klinefelter, Pompe, Gaucher, Fabry, Canavan, and maple syrup urine disease to Down, Rett, Cornelia de Lange, and Lesch-Nyhan syndromes, and many, many more. The site includes an illustrated tutorial that explains the basics of human genetics, from the cellular level on up, and a glossary of genetics terms. The site is updated regularly by a scientific staff and reviewed by external experts. Check it out.

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