MitoAction Expert Series

Dr. Mark Korson discusses: “Medical Care: What Approach Works for You?”

Talking points include:

Pros and cons of conventional live direct care

Telemedicine long-distance direct care options

Telehealth physician-to-physician clinical support (indirect care)

About The Speaker

Dr. Mark Korson graduated from the University of Toronto School of Medicine and completed his pediatric residency nearby at The Hospital for Sick Children. After his fellowship in genetics and metabolism at Boston’s Children’s Hospital, he became director of the Metabolism Clinic at Children’s until 2000. In 2000, Dr. Korson became director of the Metabolism Service at Tufts Medical Center’s Floating Hospital for Children, as well as Associate Professor of Pediatrics at Tufts University School of Medicine until 2014.

Dr. Korson promotes an educational approach to address the growing crisis in metabolic health care due to the shortage of available clinicians to treat this patient community. In 2007, Dr. Korson co-founded the North American Metabolic Academy, an annual one-week intensive course about metabolic disease for genetic and metabolic trainees; to date, more than half of all American genetic trainees have enrolled in this course. NAMA is sponsored by the Society for Inherited Metabolic Disorders.

Between 2007 and 2011, Dr. Korson directed the Metabolic Outreach Service, based at Tufts Medical Center, for which he traveled on a regular basis to five teaching hospitals in the northeastern US without an on-site metabolic service. In 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education (GMCE), a comprehensive, multi-modal initiative for improving the level of care for children and adults with metabolic disease. This past October, Dr. Korson joined VMP Genetics in Atlanta to promote telehealth metabolic consulting, assisting physicians in the care of their metabolic patients. He continues to develop innovative resources to help educate specialists and their trainees so they can participate more in the diagnosis and management of metabolic disease.

Dr. Fran Kendall of VMP Genetics discusses “Is it really Mito? When an alternative diagnosis should be considered.”

Talking points include:

Clinical red flags that suggest an alternative diagnosis should be considered;

Why that option should be entertained;

Tools utilized to reanalyze patients classified with mitochondrial disease.

About The Speaker:

Dr Fran Kendall is a Harvard-trained board-certified Clinical Biochemical Geneticist who founded the very first clinical mitochondrial disease program in the United States in the early 1990s. Over her 25-plus-year career specializing in metabolic, mitochondrial, and inherited disorders, she:

founded one of the first commercial laboratories focused on rare metabolic and mitochondrial disorders;

was the head of genetics for a large hospital system in Atlanta;

co-founded a mitochondrial foundation that is still very active;

pioneered telemedicine and private practice in rare genetics by founding VMP Genetics;

authored chapters on mitochondrial medicine for medical texts and numerous research articles;

lectures at medical schools and nursing schools on these disorders;

is a frequent guest speaker at medical conferences on mitochondrial disease and autism;

often acts as an expert witness in Federal court cases;

and has appeared on national news outlets to offer expert opinion.

She currently sees children and adults patients from around the world in either her VMP Genetics clinic in Atlanta, GA or by telemedicine and has over 20,000 fans of her medical Facebook site.

 

View slides on our website here.

Talking points include:

The mtDNA has a unique quantitative genetics

Different mtDNA mutations can result in very different symptoms

The high copy number of mtDNA can result in heterplasmy which can result in highly variable symptoms

Ancient mtDNA variants also contribute to common diseases such as autism, diabetes, and Alzheimer Disease

About The Speaker:

Douglas C. Wallace, Ph.D.

Michael and Charles Barnett Endowed Chair in Pediatric Mitochondrial Medicine and Metabolic Disease

Director, Center for Mitochondrial and Epigenomic Medicine (CMEM) Children’s Hospital of Philadelphia

Professor, Department of Pathology and Laboratory Medicine University of Pennsylvania

Colket Translational Research Building, Room 6060 3501 Civic Center Boulevard, Philadelphia, PA 19104

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 p

Talking points include:  

What are Standards of Care and why does the Mito community need such standards?

Review the MMS’s Standards of Care for Mitochondrial Disease and how they were developed.

Outline upcoming MMS projects.

About The Speaker:

Dr. Amel Karaa is a board certified internist and clinical geneticist, director of the mitochondrial disease program at the Massachusetts General Hospital in Boston. She received the 2013 United Mitochondrial Disease Foundation (UMDF) Fellowship and is conducting clinical research and clinical trials for mitochondrial disease.  She was recently elected president of the Mitochondrial Medicine Society and sits on the scientific and medical board for MitoAction and the UMDF. Dr. Karaa is also on the board of Rare New England and the newly launched Mitochondrial Care Network. She is committed to being an advocate for her mitochondrial disease patients and their families and to educate adult providers in recognizing and treating mitochondrial patients within the community. 

View slides on our website here.

Talking points include:

What is the immune system and why is it important?

Infection and mitochondrial disease

Immune function in mitochondrial disease

About The Speaker:

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. 

View slides on our website here.

The annual town hall meeting is our way of kicking off the new year by sharing all that is planned for the next 12 months. We’ll hear from organizations and companies around the globe that have special opportunities, programs, and projects for patients and families with mitochondrial disease.

We’ll hear from the following organizations:

MitoAction

Mitochondrial Medicine Society

North American Mitochondrial Disease Consortium

UMDF

Acton Pharmacy

Miracles for Mito

Stealh BioTherapeutics

Reata Pharmaceuticals

Ultragenyx

VMP Genetics

BioElectron

MitoCanada

Astellas Pharmaceuticals

ThriveRX

GeneDX

Columbia University Medical Center

Oley Foundation

CNNH NeuroHealth

MitoQ

Australian Mitochondrial Disease Foundation

One of the front-line treatment approaches to a mitochondrial disease is to use a combination, unique to each patient based on symptoms and diagnosis, of vitamins and supplements such as Coenzyme Q10, B-vitamins, L-Carnitine, Creatine, and Alpha Lipoic Acid.

Compounding pharmacists Saad Dinno and Ted Toufas from Acton Pharmacy will be discussing the ingredients which make up the mysterious “Mito Cocktail.”

Some talking points will include:

What is a compounding pharmacist?

How do ingredients in the Mito Cocktail differ from a compounding pharmacist than an over-the-counter source?

What are the side effects of the vitamins & supplements used to support adults and children with mitochondrial disease?

Which vitamins and supplements are most commonly included in a treatment regimen?

About The Speaker:

Ted Toufas, BS, PharmD, RPh

Ted Toufas BS, PharmD, RPh, Clinical Pharmacist and Pharmacist-in-Charge Compounding Lab at Acton Pharmacy, and Adjunct Assistant Professor, graduated in 2004 from WPI with a degree in Biochemistry, and in 2011 earned his  Pharmacy Doctorate from Mass College of Pharmacy in Boston. He has worked in the compounding lab at Acton Pharmacy since 2005 as a technician, intern, and pharmacist.

Over the years, he has built close relationships with his patients and providers, working closely with them to develop dosage forms that meet individualized needs. He has worked with mitochondrial providers and patients, trying to match the best formulation for taste and dosage form for ease of use. In addition, he has developed formulations, training for staff, and protocols for the lab.

While he has been at Acton, the lab has received accreditation by the Pharmacy Compounding Accreditation Board (a voluntary national inspection), UCAP (another voluntary national inspection, geared for insurances), and high marks in a National Association of Boards of Pharmacy inspection (required for UCAP accreditation). He continues to strive for improvement through training and education, both in pharmacy compounding and regulations. 

Saad Dinno, RPh

Saad Dinno, RPh, FIACP, FACA, has given lectures on mitochondrial disease across the country as well as in Australia. His staff works with patients and their providers on insurance coverage issues, compliance, taste, dosage form, counseling on the medications being dispensed, and other relevant Mito information and general questions.

He is a member of the Massachusetts Independent Pharmacy Association, Massachusetts Pharmacist Association, National Community Pharmacist Association, and International Academy of Compounding Pharmacists. He is the past president of the Massachusetts Independent Pharmacy Association and previously served on the Professional Compounding Centers of America (PCCA) Advisory Board.

Saad has received numerous awards, including being named the Margaret Bauman Outstanding Medical Professional for his work serving the autism community.

He was also named Massachusetts Innovative Pharmacist of the Year, PCCA Pharmacist of the Month, and received a Fellowship distinction from the International Academy of Compounding Pharmacists. Additionally, Saad serves on Emerson Hospital’s Care Transition Collaborative Committee, the Eliot Community Human Rights Committee, Cardinal Distribution East Advisory Board and the MitoAction Marcel Way Fund Committee. He received his Bache

Join MitoAction and Dr. Frank Kendall to discuss Direct to Consumer genetic testing (DTC testing) in detail. Some talking points will include:

Strengths and limitations of DTC testing.

Studies and data surrounding follow-up confirmatory genetic testing completed in patients with variets identified in DTC testing.

About The Speaker:

Dr. Fran Kendall is one of the pioneers in the field and is a Harvard-trained board-certified Clinical Biochemical Geneticist who founded the very first clinical mitochondrial disease program in the United States. Over decades of a career specializing in Metabolic, Mitochondrial, and Inherited Disorders, she: founded one of the first commercial laboratories focused on rare metabolic and mitochondrial disorders; pioneered telemedicine and private practice in rare genetics by founding VMP Genetics which has branched into 3 divisions (Direct Patient Care, Education, Physician to Physician Support); was the head of genetics for a large hospital system; authored chapters on mitochondrial medicine for medical texts and numerous research articles; lectures at medical schools and nursing schools on these disorders; is a frequent guest speaker at medical conferences on mitochondrial disease and autism; often acts as an expert witness in Federal court cases; and has appeared on national news outlets to offer expert opinion.

She currently sees children and adult patients from around the world in either her VMP Genetics clinic offices in Atlanta, GA or by telemedicine.

Join MitoAction and Dr. Richard Frye to discuss the distinction between primary and secondary mitochondrial diagnosis. Some talking points will include:

Primary mitochondrial disease (PMD) is ideally diagnosed by a known or indisputably pathogenic mitochondrial or nuclear DNA mutation.

Secondary mitochondrial dysfunction (SMD) can be caused by genes encoding either function nor production of the oxphos proteins and accompanies many heriditary non-mitochondrial diseases.

Secondary mitochondrial dysfunction (SMD) can also be caused by enviornmental factors.

In the absence of the ability to diagnose a primary mitochondrial disease (PMD), mitochondrial dysfunction can be effectively treated with standard treatments for PMD.

When the etiology of mitochondrial dysfunction is unknown, re-evaluation for genetic and other causes should be revisited on a regular basis.

About The Speaker:

Dr. Richard Frye is a pediatric neurologist and Chief of the Division of Neurodevelopmental Disorders at Phoenix Children’s Hospital.  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 scientific and medical journals.

Mitochondrial Disease can impact in many ways both an individual and everyone who cares for them:

Health care needs

Emotional support

Basic needs

Community Services

Join us as we review the range of programs and services that can help to lessen the toll of this diagnosis, and also to hear from YOU:  what has made a difference for you and your family!

About The Speaker

Mary Castro-Summers

Mary is the parent of 3 adult sons.  Her youngest son was born with complex health needs.  For the past 30 years, she has relied on research skills honed as a paralegal with her personal and then professional work experience with the New England Regional Genetics Group, the FIRST Project at the University of Massachusetts Medical School, Family TIES of Massachusetts, and now Franciscan Children’s in Brighton, MA.  

As a member of the committee that reviews applications for The Marcel’s Way Family Fund at MitoAction for the past 5 years, Mary has learned of the impact of mitochondrial disease and has assisted many families in finding local community resources to address their needs.

Mary is passionate about community resource information-sharing and making connections among families supporting children and adults who have special health care needs.  She was personally supported by others and enjoys packing back those acts of kindness.  Her motto in this work is, “you may be caring for your loved one by yourself, but you should never feel alone.”