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Mitochondrial diseases are individually rare, but because hundreds of them exist, they collectively have a large impact, affecting at least 1 in 5,000 people and perhaps more who often remain undiagnosed. In addition to a wide array of diseases originating in the mitochondria itself, malfunctioning mitochondria also contribute to complex disorders like Parkinson's disease, Alzheimer's disease, epilepsy, and diabetes, among others.
Still, much remains unknown about exactly how mitochondria function. A recent study published in the online journal PLoS One sheds light on mitochondrial biology.
During this week's podcast Dr. Marni Falk provides additional details on the types of diseases that result from abnormal mitochondrial gene functioning as well as what scientists actually know about the inner workings of mitochondria. She talks about the purpose of her team's mitochondrial gene defect-related experiment and their reliance on RNAi and gene knockdown technology.
Dr. Falk also explains why her group chose to work with C. elegans and discusses the implications of this research including the potential development of new therapeutics for human diseases caused by mitochondrial dysfunction.
Dr. Marni Falk received both an undergraduate Bachelor of Science (summa cum laude) degree in 1996 and M.D. degree in 2000 from The George Washington University School of Medicine in Washington, DC as part of the Seven-Year BA/MD Accelerated Program. She also accelerated her Pediatrics and Medical Genetics residency training programs. Marni completed a joint Pediatrics-Medical Genetics Residency at Case Western Reserve University School of Medicine and University Hospitals of Cleveland from July 2000 through June 2005. During that time, she was awarded a competitive American Academy of Pediatrics resident research grant. In 2004, she was awarded the David W. Smith 25th Workshop on Malformations & Morphogenesis Fellows Award. She stayed on faculty in the Department of Genetics at Case Western until June 2006, while completing graduate coursework in the Multidisciplinary Clinical Research Training Program through receipt of a competitive NIH K12 award through the Cleveland Clinic Foundation and Case Western Reserve University. She joined the faculty within the Division of Human Genetics at The Children’s Hospital of Philadelphia as an Assistant Professor of Pediatrics at the University Pennsylvania School of Medicine in October 2006.
She has published five original, peer-reviewed papers and five peer-reviewed reviews related to this work since joining the Upenn faculty. She was elected into the prestigious Society of Pediatric Research. She was awarded the 2008 best abstract award 2nd prize by the Mitochondria Research Society. She has gained national recognition for her work in mitochondrial disease, being selected as a Councilor of the Mitochondrial Medicine Society, a participant in the United Mitochondrial Disease Foundation “Ask the mito doc” program, an invited reviewer to several top journals and grant organizations, an invited moderator at national meetings, and has given multiple invited talks on her research at both local and national Meetings.
Dr. Falk has also been a critical member of the CHOP/Upenn Mitochondrial community, where she established the Mitochondrial Interest Group in January 2007 that is now comprised of over 125 active participants. She Organized and Co-Directs the recently-created CHOP/Upenn Mitochondrial Research Affinity Group funded through the Stokes Research Institute to enhance multi-disciplinary research. Under her leadership, this group offers monthly research seminars spanning all disciplines of mitochondrial biology, hosts invited speakers with international renown in mitochondrial biology, and offers an annual pilot and feasibility research grant award. Dr. Falk also serves as Director of the Mitochondrial-Genetics Diagnostic Clinic at CHOP to aid in the evaluation and management of individuals with suspected mitochondrial disease.