MitoAction Expert Series

Understanding the mechanisms of mitochondrial deafness

Join us this month with Dr. Peter Kullar, Clinical Research Fellow at the Wellcome Trust Research Centre for Mitochondrial Disease at Newcastle University (UK) to learn about mitochondrial disease and hearing loss. Key topics include:

Dr. Kullar and Dr. Chinnery have a specific interest in the A1555G mutation (antibiotic associated deafness) and in causes of mitochondrial disease related deafness.

Learn more at http://www.newcastle-mitochondria.com/research-projects/understanding-mechanisms-mitochondrial-deafness/

Dr. Peter Kullar is a clinical research fellow at Newcastle University's Wellcome Centre for Mitochondrial Disease Research.

Join us for the annual "Mito Town Meeting" on Thursday Jan. 9, 2014 at noon EASTERN time (9 a.m. Pacific).

The annual town meeting is our way of kicking off the new year by sharing all that is planned for the year. We'll hear from volunteers and representatives from a variety of programs and organizations. This is the meeting to attend if you want to get involved or get informed! 

How can you prepare your child for independence?

Transition to independence is challenging and important for all kids, but helping your child make good choices on his own when he or she also has a chronic illness can be complicated. How much independence is too much? At what age do you start planning for transition and allowing your child to make choices? How can we let our kids make their own decisions - and their own mistakes - when the stakes are so high? How can kids learn to self-advocate? What can parents do to help their chronically ill kids be able to listen to their own bodies, and to learn to plan accordingly?

Join us for a special presentation on "Tools for Transition: Gaining independence" with Ann Weaver, patient advocate at Thrive RX, and Dr. Parag Shah, medical director of the Children's Chronic Illness Transition Team at Lurie Children's Hospital.

Parag Shah, MD, MPH - Dr. Shah currently serves as the medical director of the Chronic Illness Transition Program at Lurie Children's Hospital in Chicago, IL.  The Program works to provide education to youth and staff regarding transition, advise departments on their transition programs, and conduct some research surrounding transition.  Dr. Shah graduated from  Albert Einstein College of Medicine and completed his residency training at Children's Memorial Hospital in Chicago.  He currently also works as a hospitalist at LaRabida Children's Hospital.

Ann Weaver - Ann is a Consumer Advocate for ThriveRx and the parent of a 19 year old son with chronic health issues. She recognizes the importance of providing teachable moments for children growing up with chronic health needs and guiding them to independence. She has advocated for parenteral and enteral consumers as an OLEY volunteer regional coordinator.  As an CA she supports HPEN consumers and has developed transition materials for parents of children requiring nutrition support.  Ann has presented on transitioning youth on HPEN at OLEY, AGMD and ASPEN.  She has shared the perspective of consumer/caregiver at ASPEN and to other professionals, students and industry leaders  in the parenteral and enteral nutrition field.

Ann holds an undergraduate degree in Psychology from Illinois Wesleyan University in Bloomington, Illinois.

Travis Wilson is the president and CEO of Stealth Peptides Incorporated, a clinical stage biopharmaceutical company developing a novel class of mitochondria-targeted peptide therapeutics for treatment of ophthalmic and orphan diseases.  Stealth Peptides’ lead compound in Phase 2 development, Bendavia, maintains mitochondrial bioenergetics including membrane potential and respiration under pathological conditions.  Bendavia has been shown to improve cellular ATP levels in disease, and prevent pathological reactive oxygen species (ROS) formation, thereby improving compromised cardiac, renal and skeletal muscle function.

Travis also serves as a director on several boards for preclinical and clinical stage companies, providing operational and management oversight to a portfolio of companies developing drugs across a broad spectrum of therapeutic focus, including oncology, cardiology and critical care.  Travis is a member of the life science investment team at the Morningside Group, a private investment group.

Ben Bronstein is the Vice President of Clinical Development at Stealth Peptides Incorporated, a clinical stage biopharmaceutical company developing a novel class of mitochondria-targeted peptide therapeutics for treatment of ophthalmic and orphan diseases.  In addition to his role with Stealth Peptides, Ben is a Visiting Scholar at the Wyss Institute of Biologically Inspired Engineering at Harvard University.  A board certified pathologist, Ben began his professional career on the staff of the Massachusetts General Hospital and on the faculty of Harvard Medical School. He has spent the past 25 years in entrepreneurial roles at life science firms and in venture capital. Ben has founded or held senior management positions at several venture-backed life science firms, including BioSurface Technology (regenerative medicine), Peptimmune (immunotherapeutics), Vidus Ocular (glaucoma device) and Neuron Systems (dry AMD).

Most recently Ben has served as a founder and senior vice president of Access BridgeGap Ventures, the life science investment unit of Access Industries, Inc.  Ben is also a member of the Weill Cornell Medical College Faculty Industry Council and the Oversight Committee of the Coulter Translational Partnership program in Biomedical Engineering at Boston University.

It's time to take charge of the many hours that we as patients and families spend in clinics, waiting rooms, hospitals, and healthcare provider offices. How can you get more out of every appointment? More importantly, how can you get what you need from those interactions?

Health care is changing, for better or for worse it's a new landscape. As a result, there are many, many changes which are forced upon healthcare providers and their patients. From changes in insurance reimbursement to productivity expectations for physicians, it's tough for both physicians and their patients right now.

Meanwhile, children and adults with mitochondrial disease live with complex illness and in most cases a long list of symptoms. We have mulitple specialists, sometimes in multiple places. We have local docs, community hospitals, university clinics, specialists, therapists, outpatient labs, inpatient labs, out-of-state Mito specialists, etc. etc. How can we stack the odds in our favor so that we, the patients and parents, get the most out of every healthcare interaction?

Join us with MitoAction's Executive Director Cristy Balcells RN MSN and Kathy Rivers MD to dig in to this topic and to hear strategy suggestions from Cristy and Kathy. Cristy and Kathy are both moms to children who live with mitochondrial disease and healthcare providers. We'll take a look behind the scenes of what happens outside of the waiting room and how to get more from all of those hours spent in the clinic.

This topic is dramatically important to the parents of children with complex gastrointestinal presentations of mitochondrial disease.  MitoAction brings this topic to our Mito community today in response to the increasing number of accusations of child abuse and Munchausen by proxy that have been placed upon many parents of children struggling from the devastating symptoms of mitochondrial disease.

Join us this month as we celebrate "International Mitochondrial Disease Awareness Week" across the globe and join efforts to improve awareness, acceptance and understanding of mitochondrial disease and the impact that the condition has on children and adults.

Dr. Flores will discuss "Munchausen by proxy and the intestinal failure patient" and take a candid look at cases where children with mitochondrial disease and intestinal failure caused the family's ability to care for the child to be called into question.  Dr. Flores will address the challenges that face both physicians and parents when caring for these patients.

Dr. Alex Flores serves on the MitoAction Medical Advisory Board and iis Chief of Pediatric Gastroenterology and Nutrition, Floating Hospital for Children at Tufts Medical Center, and an Associate Professor at Tufts University School of Medicine. He is a graduate of the Universidad de San Carlos de Guatemala School of Medical Sciences, and received graduate training at Baylor College of Medicine, Children's Hospital Boston/Harvard Medical School, Duke University Medical Center, Hospital Militar, Jacaltenango Hospital, Roosevelt Hospital in Guatemala, and the World Health Organization-UNICEF. Dr. Flores is board certified in Pediatric Gastroenterology and Pediatrics and works closely with Dr.  Mark Korson to support metabolic and mitochondrial patients with GI dysfunction.  In addition to developing the LAPEG procedure, Dr. Flores' specialties include GI motility disorders, and general pediatric gastroenterology.

To work or not to work...that is the question

Many adults with mitochondrial disease face a difficult decision about how to financially support themselves while balancing the energy demands and potential health toll of having a job.  Working also gives many people more than just a paycheck; it can be a way to find gratification, and may be an important part of a person's identity.  When faced with the challenging symptoms of mitochondrial disease, many things, including if and how to keep a job, come into question.

Join us this month with guest speaker Lee Rachel Jurman.  All are welcome!

Lee Rachel Jurman is a private disability advocate and case manager with Personal Disability Consulting, Inc.  She helps adults living with disabilities and their families navigate the maze of public and private systems, and make informed decisions about living and working with disabilities.

Lee has more than 30 years of experience working with people with a range of disabilities.  She was executive director of the Information Center for Individuals with Disabilities, a statewide non-profit Massachusetts agency for 6 years.  She subsequently led a national corporate disability consultation and referral program at Work/Family Directions for over 9 years.   Ms. Jurman has worked in a number of publicly funded community programs, and understands the services and systems available to people with disabilities.  She has been in private practice since 2002, bringing compassion, experience, and a determined approach to identifying and securing the resources her clients need.

Lee is a summa cum laude graduate of Ohio University, with a Bachelor Degree in Music Therapy.  She has a Master in Management of Human Services from the Florence Heller School at Brandeis University.

Lee is married, with two daughters adopted from China.

Solace Nutrition & Medical Foods joined MitoAction to discuss:

Topics of this discussion include:

About the Speaker

Mark De Fries and Nancy Moore from Solace Nutrition are experts on metabolism and Medical Foods, and together they have a total of over 30 years of experience in developing medical foods for rare conditions such as Inborn Errors of Metabolism, Food Allergies and certain neurological disorders.  The mission of Solace Nutrition is the development of Medical Foods that target diseases which can be better managed through nutrition and thus promote a better quality of life.

MitoAction is excited to welcome Dr. James Dykens, Director of Investigative Cellular Toxicity at Pfizer Drug Safety Research &  Development and author of the 2008 book "Drug Induced Mitochondrial Dysfunction".

Dr. Dykens shares with us today his perspectives on the relationship of mitochondrial function to overall health and discusses the potential effects of potential drug-induced mitochondrial toxicity. As the relationship between mitochondrial function, aging, disease and health gain traction, the importance of mitochondrial function and cellular health is in the spotlight. Dr. Dykens also discusses drug effects in patients with mitochondrial disease as well as the idea of toxicity related mitochondrial impairment to muscles, organs, and the nervous system. Dr, Dykens makes it clear that the opinions expressed here are his alone, not those of Pfizer.

Dr. Peter McGuire

Dr. Peter McGuire received his MBBCh (with Honours) from the Royal College of Surgeons in Ireland in 2003. Following a combined residency in Pediatrics and Medical Genetics at Mount Sinai Medical Center in New York City, he remained as an Assistant Professor in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics.

In 2010, Dr. McGuire moved to the National Human Genome Research Institute (NHGRI) at the National Institutes of Health to join the Physician Scientist Development Program. He was appointed to the position of tenure track Investigator in 2016.

Throughout his career, Dr. McGuire has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in Immunology and Biochemical Genetics, he has fashioned a translational research program to understand the interplay between mitochondrial metabolism and the immune system. As Head of the Metabolism, Infection and Immunity Section (MINIS) at NHGRI, Dr. McGuire and his team study the interplay between metabolism and the immune system in patients with inborn errors of mitochondrial metabolism. The group focuses on two aspects of immunometabolism:

1)    Immune system activation and end-organ mitochondrial metabolism

The focus of the group's research on immune system activation and end-organ metabolism is based on the clinical observation that infection is a major cause of morbidity and mortality in patients with mitochondrial disease. The MINIS uses animal models, combined with infectious organisms, to yield insights into the metabolic perturbations seen in disorders of mitochondrial metabolism during infection and to identify potential targets for intervention.

2)    Role of mitochondria in immune cell function

The group also studies mitochondrial metabolism and immune cell function. Immune cells drastically alter their metabolic programming during activation and differentiation. The deficiencies present in patients with mitochondrial disease may affect these processes. The group developed a clinical protocol in the National Institutes of Health (NIH) Clinical Center, called the NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism (NIH Clinical Trial NCT01780168). Immune phenotypes identified in patients are further explored via animal and cell culture model systems. By expanding the immune phenotype of patients with mitochondrial disease, these studies will have an impact on the clinical care of patients as well as serving as the foundation for understanding the role of mitochondria in immune function.