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Mitochondrial Disease and the NHGRI Undiagnosed Disease Program (UDP)

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Air date: Monday, May 7, 2012, 10:00:00 AM
Time displayed is Eastern Time, Washington DC Local
Views: Total views: 498 (37 Live, 461 On-demand)
Category: Mitochondria
Runtime: 01:49:45
Description: This Videocast/live presentation will highlight cases of the Undiagnosed Disease Program (UDP) that involve mitochondria, a subset of undiagnosed diseases.

The speakers include:

1. Bill Gahl (NHGRI-UDP)– Overview of the UDP

2. Harvey Mudd (NIMH)– AdoMET abnormalities in mitochondrial DNA depletion disorders

3. Alex Gorbach (NIBIB)– Infrared Thermogenesis studies in Kearns-Sayre Syndrome (KSS)

4. Lynne Wolfe (NHGRI-UDP)– Is it or is not a mitochondrial disease ?

5. Camilo Toro (NHGRI)- Adding Insult to Injury: How a Mutation of Nuclear-encoded Mitochondrial Protein ruins the Function of Another

Q/A will be an integral part of this session so that the NIH and wider scientific community can learn the mission of the UDP, and understand how to interact with this resource.
NLM Title: Mitochondrial disease and the NHGRI Undiagnosed Disease Program (UDP) / Bill Gahl ... [et al.].
Author: Gahl, William.
National Institutes of Health (U.S.). Mitochondria Interest Group.
Publisher:
Abstract: (CIT): This Videocast/live presentation will highlight cases of the Undiagnosed Disease Program (UDP) that involve mitochondria, a subset of undiagnosed diseases. The speakers include: 1. Bill Gahl (NHGRI-UDP)- Overview of the UDP2. Harvey Mudd (NIMH)- AdoMET abnormalities in mitochondrial DNA depletion disorders 3. Alex Gorbach (NIBIB)- Infrared Thermogenesis studies in Kearns-Sayre Syndrome (KSS) 4. Lynne Wolfe (NHGRI-UDP)- Is it or is not a mitochondrial disease ? 5. Camilo Toro (NHGRI)- Adding Insult to Injury: How a Mutation of Nuclear-encoded Mitochondrial Protein ruins the Function of Another Q/A will be an integral part of this session so that the NIH and wider scientific community can learn the mission of the UDP, and understand how to interact with this resource.
Subjects: Diagnosis, Differential
Mitochondrial Diseases--diagnosis
Publication Types: Lecture
Webcast
 
NLM Classification: WD 200.5.M6
NLM ID: 101585253
CIT Live ID: 11245
Permanent link: https://videocast.nih.gov/watch=11245

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