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![6.8. Ataxia with Oculomotor Apraxia-Type 2 - Cerebellar Ataxia [Spring Video Atlas]](https://i.ytimg.com/vi/sfvLnM_foO0/mqdefault.jpg)
Webcast : Ataxia Telangiectasia (A-T)
http://www.Alfred.TV READ ME FIRST: Join me with Dr. Howard Lederman from Johns Hopkins Medicine as he provides us with an overview of the genetic disorder, Ataxia Telangiectasia, better known as "A-T".
Dr. Lederman's titles at Johns Hopkins Medicine include:
• Professor of Pediatrics
• Director, Immunodeficiency Clinic
• Director, Ataxia-Telangiectasia Clinical Center
• Director, Pediatric Immunology Laboratory
A-T can be referred to as a "gateway gene", with its mutation, known as "ATM", opening the doors to many other diseases, including:
• Diabetes
• Alzheimer's
• Cerebral Palsy
• Cystic Fibrosis
• Breast Cancer
• Immune Deficiency
Dr. Lederman's leading-edge research on A-T, with his team at Johns Hopkins Medicine, may also lead to uncovering cures for these other diseases.
There are approximately 500 individuals afflicted with A-T in the United States. It is a rare, genetic disorder.
Also joining us in this video is Jared Digby, with his mother, Pamela, who is afflicted with A-T. Pamela and her husband both were carries of the mutated A-T gene, and Jared, unfortunately, got a 'double dose" at the genetic level, and suffers with the disorder. Jared's sister is ok.
Jared is an avid MacPro user, and he with his family are participating in a Disney Marathon this Labor Day weekend, 2009, to continue fundraising efforts for continued A-T research.
Below are website links used during this webcast:
John Hopkins Medicine
http://www.hopkinsmedicine.org/
Howard Mark Lederman, MD PhD
http://bit.ly/10hPga
Johns Hopkins on YouTube
http://www.youtube.com/user/JohnsHopkinsMedicine
Wikipedia entry on A-T
http://en.wikipedia.org/wiki/Ataxia_telangiectasia
Technical data on the AT Mutated gene
http://igene.invitrogen.com/iG....ene/browse/gene/ATM/
Jared Digby's personal homepage
http://www.geocities.com/jareddigby/
Jared on Twitter
http://www.twitter.com/jareddigby
Jared's donation page
http://www.communityatcp.org/jareddigby
Jared's keyboard used with his MacPro under Leopard
http://bit.ly/UgXCE
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