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 Akron Children's Hospital presents Understanding Mitochondrial Diseases with Dr. Bruce Cohen





Akron Children's Hospital Presents Diagnosing and Treating Mitochondrial Diseases with Dr. Bruce Cohen 






Check out this cool teaching video on ATP. The video was created by Tom McFadden, an instructor in Stanford’s Human Biology program.
 
 
April, 2009

On April 16-17, 2009, the United Mitochondrial Disease Foundation held it's 12th annual Grant Reviewers meeting in Pittsburgh, PA. Each year, the UMDF receives hundreds of  'Letters of Intent" from researchers interested in the grant program.  The UMDF's Scientific and Medical Advisory Board reviews and ranks each.  Investigators providing Letters of Intent of greatest interest or scientific value for projects in line with the UMDF's mission goals are invited to submit a formal proposal.  It was those proposals reviewed in April.   Grant Review Co-Chairmen, William Copeland, PhD, and Carmen Mannella, PhD, discuss the process in the video below.

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March,2009

Researchers at NYU Langone Medical Center in New York City may have discovered a new targeted intervention for Barth Syndrome (BTHS).  The new study, entitled "Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome", was recently published in the Proceedings of the National Academy of Sciences.  The research establishes a casual role of cardiolipin deficiency in the pathogenesis of Barth syndrome and identified an important enzyme in cardiolipin degradation. 

Click here to listen to MITOCHONDRIAL NEWS and our interview with the lead investigator of the study, Mindong Ren, Ph.D  

The research was partially funded by a UMDF research grant, a grant from the Barth Syndrome Foundation and the National Institutes of Health (NIH)

FEBRUARY, 2009


Dr. Gregory Enns
 
The United Mitochondrial Disease Foundation's Research Grant Program partially funded a project  that  has lead a team at Stanford and Lucile Packard Children's Hospital to discover a biological marker they can use to monitor mitochondrial diseases.

The finding will enable researchers to hunt for treatments and help physicians check patients' status before health crises erupt.  The senior study author  is Greg Enns, MB, ChB, who is professor of pediatrics at Stanford University School of Medicine and director of the biochemical genetics program at Packard. Presently, Dr. Enns serves on the  UMDF Scientific and Medical Advisory. 

Click here to Listen to Mitochondrial News and our interview with Dr. Enns.

Dr. Enns was awarded a UMDF Research Grant in 2004 for this project, which was titled  "GSH levels, reactive oxygen species production, lipid peroxidation products and mitochondrial membrane potential in patients with mitochondrial disease."

Kathy Rivers, a Washington DC area mom, describes the difficult time she had in getting a diagnosis of mitochondrial disease for her children.