Genes, Chromosomes, and Genetic Conditions, Oh My!

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By Jessica Van Der Volgen, NLM Associate Fellow

Guest Blogger

Cystic fibrosis? Trisomy 18? BRCA2? SOX9? Chromosome 11? Lymphangioleiomyomatosis?

Whether the information is for a school project or a newly diagnosed patient, Genetics Home Reference provides expert-reviewed, consumer-friendly information about the effects of genetic variations on human health.

Genetics Home Reference contains information on over 700 health conditions, diseases, and syndromes, including:

  • a description,
  • which genes are involved,
  • how people inherit the condition,
  • how common the condition is, and
  • where to find more information on diagnosis, management and treatment.

You can look up a gene by symbol, number, or group to find its normal function and how it can affect human health.  You’ll also find information by chromosome such as the number of genes on chromosome 8 and the effects of changes to the structure of the chromosome.

Genetics Home Reference offers a glossary and handbook with questions and answers about genes and DNA, mutations, inheritance, genetic testing, gene therapy and other related topics. The handbook also contains a section to help users find a local genetics counselor. Finally, you can find a list of authoritative sources of additional information for patients and families, educators, health professionals and genetic researchers on the resources page.

Genetics Home Reference is a great first stop in your quest to understand genetic conditions.

Question: What is your favorite source to point to for learning about genetics?

Photo Credit:  Photo used with permission of the National Library of Medicine, at http://ghr.nlm.nih.gov/handbook/illustrations/pedigree.

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Post dateFebruary 8, 2012  tagsTags: ,   Posted in: Family Health History, Genetics, Guest Contributors