MitoAction Expert Series

About the Speaker

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia.  He is internationally recognized as a leader in the field of inborn errors of metabolism and fatty acid oxidation disorders research.  Dr. Vockley’s current research focuses on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease.  Dr. Vockley teaches at the University of Pittsburgh in both the Medical School and Graduate School of Public Health.

Join MitoAction’s CEO, Kira Mann and Karen’s CEO, Dave Williams for a step-by-step tutorial to get started using the MitoAction Mobile App platform.  This tool will help you manage your day-to-day with mito and help us learn more about the daily challenges you face living with this rare disease.

Genetic Testing – Genome Sequencing: A-Z for Mitochondrial Disease

The annual town hall meeting is MitoAction’s way of kicking off the new year by sharing all that we have in store for the next 12 months!  We will hear from organizations and companies around the globe that have special opportunities, programs and projects for patients and families affected by mitochondrial disease.

“The Power of Rare Disease Advocacy”

Advocates are the key to creating real change.  Learn the power that you as a patient and caregiver have, what you can do to move the needle for your rare disease and how to get more involved!

About the Speaker

Shannon von Felden is the Director of Rare Disease Legislative Advocates, a program of the EveryLife Foundation for Rare Diseases. She works with rare disease advocates across the country to engage at the local, state, and federal level. She began her career on Capitol Hill as a Legislative Assistant for Congresswoman Shelley Berkley (NV) working on health care and veterans affairs issues. Shannon has worked with national nonprofit organizations to further their policy and advocacy goals including Juvenile Diabetes Research Foundation and National Osteoporosis Foundation. She received her Master of Public Policy from American University.

“Understanding the New Recommendations on the Safety of Drug Use in Patients with a Primary Mitochondrial Disease”

Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary withholding of a drug in a situation of clinical need.  The aim of this new study was to develop consensus on safe medication use in patients with a primary mitochondrial disease.

About the Speaker

Dr. Amel Karaa is a board-certified internist and clinical geneticist, director of the mitochondrial disease programs at the Massachusetts General Hospital in Boston (The Mito Clinic). She received an international baccalaureate in biology and chemistry (magna cum laude) from the Franzoesiches Gymnasium in Berlin and a medical degree (summa cum laude) from the Universite of Medicine et Pharmacy de Tunis in Tunisia. She has also completed her internal medicine residency and clinical genetic and metabolism fellowship through Harvard-wide programs. She received the 2013 United Mitochondrial Disease Foundation (UMDF) Fellowship and is currently overseeing clinical care for pediatric and adult mitochondrial disease patients and conducting clinical research and clinical trials for mitochondrial disease. She was elected president of the Mitochondrial medicine Society in June of 2018 and sits on the scientific and medical board of the Mitochondrial Disease Action Committee (MitoAction) and the United Mitochondrial Disease Foundation (UMDF). Dr. Karaa is also a founder and a board member of newly launched Mitochondrial Care Network (MCN), a US-wide network developing centers of excellence for mitochondrial disease and a principal site investigator for the North American Mitochondrial Disease Consortium (NAMDC). She is committed to being an advocate for her mitochondrial disease patients and their families, to educate health care providers in recognizing and treating mitochondrial patients within the community and to be a catalyst for bringing a much-needed cure to this population of patients.

Join MitoAction and Annette Hines on April 3, 2020 for our April Monthly Mito Expert Series.

Ins and Outs of Social Security

Navigating Supplemental Security Income (SSI) and Social Security Disability Insurance (SSDI) can be overwhelming. This session will be an overview of rules and regulations of both programs, especially for working adults, as well touching on some other public benefits options.

About the Speaker

Annette M. Hines is the founding partner of Special Needs Law Group of Massachusetts, PC and has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over twenty years. Her clients include individuals and families of children with special needs, the elderly, and others in the community. She received her BA for the University of Vermont, her MBA from Suffolk University, and her JD from Howard University School of Law.

Ms. Hines brings personal experience with special needs to her practice, as the mother of two daughters, one of whom passed away from Mitochondrial disease in November 2013. This deep personal understanding of special needs fuels her passion for quality special needs planning and drives her dedication to the practice.

Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of people with disabilities. She was designated a 2016 Top Women of Law from Massachusetts Lawyers Weekly and has been named to the Massachusetts Super Lawyers list every year since 2014.

Ms. Hines is a frequent expert speaker and a regular contributor to ThriveGlobal. She is also the host of the weekly podcast Parenting Impossible: The Special Needs Survival Podcast, where she offers inspiration, support, expertise, and a wide range of discussions that will help you survive and thrive as you support your loved one with special needs.

Ms. Hines is also the author of Butterflies and Second Chances: A Mom’s Memoir of Love and Loss, the inspiring true story of a mother’s special needs journey, and her struggle to secure the best possible life for her child in the face of bureaucratic resistance and marital crisis. It is a story of sacrifice, dedication, and the life-altering adjustments a special needs parent has to make when confronted with the unthinkable. But most of all, it’s about love and an extraordinary mother-daughter relationship that flourished without words in the darkest shadows of adversity.

Join MitoAction and Dr. Jerry Vockley from UPMC Children’s Hospital of Pittsburgh for a Q & A to discuss your questions and concerns about the impact of COVID-19 for Fatty Acid Oxidation Disorders.

If you have any additional questions that were not answered here, you can submit them to the "Ask the Expert" section on the INFORM website!

About the Speaker:

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia.  He is internationally recognized as a leader in the field of inborn errors of metabolism and fatty acid oxidation disorders research.  Dr. Vockley’s current research focuses on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease.  Dr. Vockley teaches at the University of Pittsburgh in both the Medical School and Graduate School of Public Health.

Dr. Douglas Wallace, the Director of  The Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia (CHOP) presents on Mitochondrial Genetics and Diseases for our June Monthly Mito Expert Series presentation!

About the Speaker

Douglas C. Wallace founded the field of human mitochondrial DNA (mtDNA) genetics and demonstrated that mtDNA variation has profound implications for human health and disease, the origins and ancient migrations of our ancestors, human and animal adaptation, and perhaps the origin of species. Starting in the early 1970s, he demonstrated that the mtDNA codes for inherited traits by developing the transmitochondral cybrid system and demonstrating that mixtures of mutant and normal mtDNAs (heteroplasmy) affect cellular phenotypes through exceeding quantitative energetic thresholds. In family studies, he showed that the human mtDNA is exclusively maternally inherited, that the mtDNA sequence is highly polymorphic, and that mtDNA variation correlates with the geographic origins of indigenous peoples. Concurrently, he helped define the genes and proteins coded by the mtDNA and demonstrate their essential role in mitochondrial energy production. From this foundation, he was the first to identify inherited mtDNA mutations that result in disease, initially the mtDNA missense mutation that causes Leber Hereditary Optic Neuropathy (LHON) and the protein synthesis mutation that causes Myoclonic Epilepsy and Ragged Red Fiber (MERRF) disease. Since then he has identified multiple pathogenic mtDNA mutations causing diseases as diverse as diabetes, cardiovascular disease, and Alzheimer disease. Currently, his web-based mtDNA information service, MITOMAP, now lists hundreds of clinically relevant mtDNA mutations. Wallace also showed that the accumulation of mtDNA mutations in tissues correlates with aging and age-related diseases. Pursuing his discovery that different continental populations have different groups of mtDNA variants, Wallace spent 20 years surveying the mtDNA variation from populations around the world. By correlating mtDNA sequence differences between populations with their geographic locations, Wallace was able to reconstruct the origin and radiation of women and thus of Homo sapiens sapiens. This revealed that humans arose in Africa about 200,000 years ago, that only two mtDNAs successfully left Africa to colonize Eurasia and the Americas, and that functional mtDNA variants arose as humans moved into a new environments. This led Wallace to propose that mtDNA variation which modifies energy metabolism is a major factor in permitting humans and other animals to adapt to new environments. Since the mtDNA trees of the species studied coalesce back to a single mtDNA, Wallace has proposed that mtDNA variation may be the factor that permits subspecies to occupy marginal environments as a precursor to speciation. Wallace was also among the first to clone nuclear DNA-coded mitochondrial genes, to show their relevance to disease, and to demonstrate that variants in nDNA and mtDNA genes could interact to markedly affect and individual’s phenotype. He also demonstrated that regional mtDNAs when moved to new environments can predispose to a wide range of complex diseases. Wallace was the first to develop mouse models of mitochondrial disease and to invent a procedure for introducing mtDNA mutations into the mouse female germline. This revealed that single mtDNA base changes were sufficient to produce the common metabolic and degenerative disease phenotypes. Thus, Wallace has provided compelling evidence that mtDNA variation is central to health and the common diseases.

Awards and Honors – In recognition of his seminal contributions to human and mammalian genetics, Wallace was elected to membership in the National Academy of Science in 1995, the American Academy of Art

MitoAction asked Maggie Orr, RN MSN EdM, Medical Advisory Board Member to join us to collaborate about heat intolerance and its causes.  We will discuss:

What is heat intolerance, dysautonomia?

Why is it such an important issue for people with mitochondrial disease?

About the Speaker

Maggie is the nurse coordinator in the Metabolism Service at the Floating Hospital for Children at Tufts Medical Center. She trained as a Family Nurse Practitioner at Yale School of Nursing and did primary care before staying home to care for her daughter, Mamie Rose, who died of mitochondrial disease (Complex I defect) in 2003. She has undergraduate degrees in Spanish and Early Childhood Education from Arizona State University, and a master’s in education from Harvard Graduate School of Education.