TalkMendel’s Garden #2: Rare Genetic Conditions
I’m a bit late in announcing this but the latest issue of Mendel’s Garden, the new genetics blog round-up, is up at Genetics and Health. A few of the selections about rare genetic conditions caught my attention.
Dr. Paul discusses an intriguing collaboration between dog breeders and human researchers. Batten Disease, is a rare genetic disorder that appears in both humans and Tibetan Terriers. The breed club has a DNA database for the dogs, and you can guess the rest — but you really should read Dr. Paul’s commentary about what a collaboration like this can mean for a rare disease.
Filipina Soul writes about a rare, recessive genetic disorder, maple syrup urine disease, and recent research that suggests high carrier rates (up to 1 in 100) among Filipinos. According to Filipina Soul, the researchers have also identified a unique founder mutation that causes the disease. Research such as this is exciting — it can make pre-conception carrier testing possible, not to mention how awareness of ethnic risk increases the likelihood of early postnatal diagnosis.
Over at Ideas for Women, Trisha has thoughtful commentary on a study I’ve been meaning to write about. Recently, the Journal of Clinical Oncology published a preliminary study suggesting that women with BRCA1 or BRCA2 mutations who are exposed to X-rays have a greater risk for breast cancer. (Trisha also reported on the discovery of a BARD1 variant that in combination with a BRCA1 mutation significantly increases cancer risk. This variant has been found only in European families to date.) This has nothing to do with rare genetic conditions, per se, but I share her perspectives about this research, how the media covers news like this, and how we as individuals make choices based on this.
Technorati Tags: mendel’s garden, genetic disorders, batten disease, tibetan terriers, maple syrup urine disease, msud, carrier testing, brca1, brca2, bard1, breast cancer, x-rays
April 3rd, 2007 at 9:49 am
Wow the link between Humans and Dogs is amazing. This under scores the reason to make sure that your dog is healthy and you need to be knowledgeable about weakness of the dog breed you have.
If you are buying a puppy you first need to do some research on the breed best suited to you and your expectations. Then do some further research into the history of the breed, it temperament and different health issue to look out for. To start your reseach start at Find a purebred dog http://www.findapurebred.com