MitoAction Expert Series

Friday, July 24Auditorium – 2:00pm – Infection, Immunity and FAOD

About the Speaker

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.

Friday, July 24Auditorium – 1:10pm – INFORM & FAOD Community Update

About the Speaker:

Cleveland Family Endowed Pediatric Research, School of MedicineProfessor of Human Genetics, Graduate School of Public HealthChief of Medical Genetics, Children’s Hospital of PittsburghDirector of the Center for Rare Disease Therapy, Children’s Hospital of Pittsburgh

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, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine.

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 270 peer reviewed scholarly articles, is the principle investigator on four NIH grants and a co-investigator on 7 others. He has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics Therapeutics Committee. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.

Kristi Wees discusses medical homes for Mito patients.

Topics include:

 

The importance of a medical home for a mitochondrial disease patient.

Definition of a medical home.

How to establish a medical home.

Why a medical home is an essential component of good patient advocacy.

Tips on maintaining a healthy medical home relationship.

Ms. Wees will describe theses issues primarily from a pediatric perspective, but she will give adult examples as well.

 

Ms. Wees is a patient advocate with Empowered Medical Advocacy. She assists parents and caregivers each week in navigating toward improved quality of life for their child and their families.

Dr. Tarnopolsky, Professor of Pediatrics and Medicine, President and CEO, Exerkine Corporation, and Director of Neuromuscular and Neurometabolic Clinic at McMaster University Medical Center, will discuss exercise and nutrition therapy for mitochondrial disease including:

the theory and practical issues with endurance and resistance exercise therapy;

general nutritional guidelines for mitochondrial disease;

the rationale for the mitochondrial cocktail.

About The Speaker:

Mark Tarnopolsky, MD, PhD, FRDP(C), is the Clinical and Research Director of the Corkins/Lammert Family Neuromuscular and Neurometabolic Clinic at McMaster University. He holds an endowed chair at McMaster Children’s Hospital and Hamilton Health Sciences Foundation in Neuromuscular Diseases and is a Professor of Pediatrics and Medicine. He was co-founder of Life Science Nutritionals (LSN) and Chief Scientific Officer for LSN from 2006-2015. He is the founder (2015) and current president and CEO of Exerkine Corporation. He has received the Dr. David Green Award from the Muscular Dystrophy Association in 2005, the Barsky Lectureship for Excellence in Mitochondrial Medicine in 2007 and the honor award from the Canadian Society for Exercise Physiology 2008, the McMaster Distinguished Alumni Award for Science in 2012, and the International Biochemistry of Exercise Honor Award in 2015. His research focuses on nutritional, exercise, pharmacological, and genetic therapies for neurometabolic (primarily mitochondrial), neuromuscular, and neurogenetic disorders as well as diseases associated with aging. He has authored or coauthored more than 400 scientific articles and many book chapters and abstracts. He has also lectured widely in the area of neurology (neuromuscular and neurometabolic disorders), aging, and exercise physiology. He has served on several editorial and scientific boards (UMDF, MSSE, Mitochondrion, PLOS ONE, Barth Foundation) and has been on Grant Selection Committees for NSERC (Animal Biology, 2003-2006, Chair, 2006), CIHR Biology of Aging Committee (2006), CIHR Movement Committee (2012, 2013, 2015), and Chair of the Emerging Team Grant: Mobility in Aging (2007).

To view the accompanying slides, click here.

Dr. Darius Adams, a clinical geneticist, discusses molecular diagnostic testing for mitochondrial disorders.

Dr. Adams, Medical Director of the Goryeb Children’s Hospital Genetics and Metabolism Division in addition to the Personalized Genomic Medicine Program at Atlantic Health System in Morristown, NJ, will:

Explore gene testing and discuss the rationale for using it as first-line testing.

Review traditional diagnostic pathways.

Discuss newer testing that has become available in recent years.

Review new approaches to attempt to shorten time to diagnosis and increase precision.

About The Speaker:

Dr. Darius Adams completed his internship and residency in Genetics at the Mount Sinai Medical Center in New York City, where he received comprehensive training in genetics and dysmorphology. He remained at Mount Sinai for an additional year to complete a fellowship in Metabolic/Biochemical Genetics. Dr. Adams was certified as a Clinical Geneticist by the American Board of Medical Genetics in September 2002 and 2012 and as a Clinical Biochemical Geneticist in September 2005. Dr. Adams joined the Pediatrics Department at Albany Medical Center in July 2003 as an attending physician and an Assistant Professor. He is now Medical Director of the Goryeb Children’s Hospital Genetics and Metabolism Division in addition to the Personalized Genomic Medicine Program at Atlantic Health System in Morristown, NJ. He also directs the Lysosomal Storage Disease program at Atlantic Health System and follows patients with Gaucher, Fabry, Pompe and Morquio A.

To view the accompanying slides, click here.

Cheryl M. Clow RN discusses Getting Through the Day with Mito: Treatments, Supplements, and Humor.

Topics of discussion include:

Patient care considerations and making the most of the energy you have each day.

Reviewing activities of daily living, their impact on individuals with mitochondrial disorders, and planning ahead.

Describing ways to lessen stress and boost the immune system.

About the Speaker

Cheryl is a registered nurse and has been Clinical Care Coordinator in the Department of Pediatrics at Albany Medical Center for 26 years. She worked in the Section of Pediatric Endocrinology for 13 years prior to working with the Section of Genetics and Inborn Errors of Metabolism, her current position since 2003. She has worked facilitating care of patients with mitochondrial disorders during that time, both pediatric and adult. She was voted Employee of the Year at Albany Medical Center in 2014, and the Albany Times Union’s “Salute to Nurses” Nurse of the Year Finalist two years in a row, 2015 and 2016. She is currently a member of the Medical Advisory Council for Make-A-Wish Northeast NY.

To view the accompanying slides, click here.

Greg Macpherson, CEO of MitoQ, discusses “Mitochondria and MitoQ: A Research Update.”

MitoQ’s mission is to raise awareness of mitochondria and the link between optimal mitochondria function, health, and longevity.

Topics of discussion include:

What is MitoQ?

Research Overview:

Mitochondrial Disease and Dysfunction

MitoQ

Clinical implications

Anti-aging research update

About The Speaker:

Greg Macpherson is Chief Executive Officer of MitoQ Ltd. He completed a Bachelor of Pharmacy at University of Otago School of Medicine in 1992. Subsequently he has been owner and director of a number of startup businesses that include New Zealand’s largest residential care services pharmacy, NZ’s first robotic dispensing laboratory, a pharmaceutical wholesaling company, and a software development company. He has been a partner and board member of a pharmacy chain associated with one of NZ’s leading retailers.

For accompanying slides, click here.

Dr. Michio Hirano, Chief of the Neuromuscular Division at Columbia University Medical Center, and Kris Engelstad MS CGC, a board-certified genetic counselor and program coordinator at Columbia University Medical Center, discuss Mitochondrial Replacement Therapy.

Learn more about MRT, also known in the media as three-person babies.

Topics of discussion include:

Family planning options are severely limited for women carriers of DNA mutations in the mitochondrial genome.

There is an urgent clinical need to develop IVF techniques to reduce/eliminate the transmission of mitochondrial genome DNA mutations from mother to offspring.

Mitochondrial replacement therapy (MRT) is a promising technique for female carriers.

Continued research and development of MRT is necessary for future clinical use.

Adult female carriers and their male partners can participate in this research by donating oocytes/sperm for the production of viable zygotes using MRT.

About The Speakers

Dr. Michio Hirano is a Professor of Neurology and Chief of the Division of Neuromuscular Medicine at Columbia University Medical Center. For over 20 years, Dr. Hirano’s translational research focused on mitochondrial disease and inherited myopathies. His laboratory has identified novel causative genes for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), X-linked scapuloperoneal myopathy, primary coenzyme Q10 (CoQ10) deficiencies and has studied cell and mouse models of these and other diseases including thymidine kinase 2 (TK2) deficiency. He has also been investigating allogeneic hematopoetic stem cell transplantation for MNGIE, pharmacological therapies for TK2 deficiency and, with Kris Engelstad and Dr. Dieter Egli, mitochondrial replacement therapy. Since 2009, Dr. Hirano has directed the NIH U54-funded North American Mitochondrial Disease Consortium (NAMDC).

Kris Engelstad MS CGC, is a board-certified genetic counselor and a program coordinator at Columbia University Medical Center. For the past 15 years she has focused on clinical research in mitochondrial disorders, including: several clinical trials, natural history studies, NAMDC patient registry and biobank, and the Mitochondrial Replacement Therapy Survey.  She provides genetic counseling services for various clinical trials, a pediatric neuromuscular clinic and for adult and pediatric patients with mitochondrial disorders.

For accompanying slides, click here.

uy Miller, BioElectron’s CEO, and Matthew Klein, its Chief Medical Officer, will discuss the following:

Challenges in the development of drugs for mitochondrial disease

Status of BioElectron mitochondrial disease programs

Next steps

About The Speaker:

Guy Miller, MD, PhD is Founder, Chairman, and Chief Executive Officer of BioElectron Technology Corporation. BioElectron is a technology company focused on biological energy. Dr. Miller holds a PhD in chemistry and an MD, with subspecialty training in critical care medicine. He completed his surgical internship at University of Chicago, and completed his residency and fellowship training at Johns Hopkins, where he was an assistant professor. His research has been funded by numerous organizations including DARPA. He is an attending physician in medical surgical critical care at Stanford University Medical Center/VAPAHCS.

Matthew B. Klein, MD, MS, FACS is Chief Medical Officer of BioElectro Technology Corporation. He received his MD degree from Yale University and completed his surgical training at Stanford University. He also holds a Master’s degree in Epidemiology. Dr. Klein most recently held the David and Nancy Auth-Washington Research Foundation Endowed Chair for Restorative Burn Surgery at the University of Washington where he was a professor of surgery and epidemiology. His clinical and research expertise spans several fields, including skin biology, wound healing, systemic inflammatory disorders, clinical trials, and nutrition. Dr. Klein has authored or co-authored over 80 peer-reviewed manuscripts and 15 book chapters related to these areas, and sits on the editorial review boards of several prominent biomedical journals. He is currently a clinical associate professor at Stanford University.

For accompanying slides, click here.

Richard Frye, MD, PhD, FAAP, FAAN, CPI, discusses how  Enteric (gut) Microbiome Modulates Mitochondrial Function.

Talking points include:

The enteric (gut) microbiome has an important influence on health and disease states in humans.

The enteric  microbiome influences the human host using chemical mediators, some of which can directly affect mitochondrial function

Short chain fatty acids produced by gut bacteria not only modulate mitochondrial function and cellular regulatory pathways, but can also be used as mitochondrial fuels.

About The Speaker

Dr. Richard Frye is the Director of Autism Research at Arkansas Children’s Hospital Research Institute, Director of the Autism Multispecialty Clinic, and Co-Director of the Neurometabolic Clinic at Arkansas Children’s Hospital and Associate Professor in Pediatrics at the University of Arkansas for Medical Sciences. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology, and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of prestigious scientific and medical journals.

Over the past several years he has completed several clinical studies on children with autism spectrum disorder (ASD), including studies focusing on defining the clinical, behavioral, cognitive, genetic, and metabolic characteristics of children with ASD and mitochondrial disease and several clinical trials demonstrating the efficacy of safe and novel treatments that address underlying physiological abnormalities in children with ASD, including open-labels on tetrahydrobiopterin, cobalamin and folinic acid and a recent double-blind placebo controlled trial on folinic acid. Future research efforts are focused on defining physiological endophenotypes of children with ASD and developing targeted treatments.

For accompanying slidies, click here.