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/iGene/browse/gene/ATM/472

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

Category:

Science & Technology

Tags:

• Ataxia
• Telangiectasia
• AT
• A-T
• ATM
• Gene
• Mutation
• Genetic
• Disorder
• Johns
• Hopkins
• Medicine
• Diabetes
• Alzheimer's
• Cerebral
• Palsy
• Cystic
• Fibrosis
• Breast
• Cancer
• Immune
• Deficiency
• Alfred
• Alfred.TV
• adiblasi

[TheTerminatorT101]

:O .... My Sister Has That Disorder ;( Bless Her

[decoralias]

thank you very much for it.

[powerchairchick]

i believe my best friend had AT. unfortunately, she passed away from chemo related pneumonia at 17. she passed away undiagnosed. R.I.P Stephanie <3

[mbramlitt904]

Great job. Jared you did an awesome job!!!

[Stoney514]

glad i could watch it here.

sorry i couldnt make it to the real thing

i did forward it to people as you said al

nice of you to bring spotlight to this :)

6stars

[92EXC]

Good job, Alfred!

[ZeroXR]

this was very usefull

[laledo650]

wheres pdawgg at?!

[alin0steglinski0]

Hmm you should have him speak to me. I am such a freaking mess

[alin0steglinski0]

Awesome Alfred, I need to get tested for that!

[daniel151994]

It's 34 minutes! =)