Seattle Children’s Hospital has been delivering superior patient care for over 100 years, while advancing new discoveries and treatments in pediatric research. The Seattle Children’s Research Institute is one of the nation’s top five pediatric research centers, dedicated to providing hope, care, and cures to help every child live the healthiest and most fulfilling life possible. We are incredibly proud to have invested in the research of a number of mitochondrial disease specialists working with the Research Institute over the years.
Mitochondrial disease researchers at Seattle Children’s Hospital lead cutting-edge research on mitochondria’s role in childhood disease. This includes developing tests that help doctors diagnose and monitor mitochondrial diseases; investigating drugs that could reverse some of the diseases’ effects; and developing better treatments for pediatric epilepsies caused by mitochondrial dysfunction. The Mitochondrial Research Guild invests in research that we believe will lead to improved patient care. We’ve highlighted some current and past guild-supported research projects below. Be sure to visit our publications page for additional references to articles by researchers we support.
Current Research Highlights
Discovering Connections Between Genetic Variants and Disease Symptoms
The Mitochondrial Research Guild currently provides support to the Simon Johnson laboratory. Led by Simon Johnson, PhD, this lab studies the molecular and developmental mechanisms involved in the pathogenesis of pediatric genetic diseases, with a primary focus on mitochondrial disease. The aim of this work is to understand how genetic defects lead to the specific symptoms seen clinically, with the hope that a better understanding of disease pathways will lead to more effective and targeted therapies for pediatric genetic disorders.
Supporting Clinical Trials to Advance Therapeutic Treatments
The Mitochondrial Research Guild provides ongoing support to the Saneto Laboratory. Led by Russ Saneto, D.O.. PhD., this lab supports enrollment in and investigation for several studies related to mitochondrial disease. Dr. Saneto is currently a Principal Investigator (PI) of a treatment trial to manage refractory epilepsy associated with mitochondrial disease, as well as a PI for the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC). He is a PI in a National Institutes of Health-sponsored clinical trial for treatment of the mitochondrial disease pyruvate dehydrogenase deficiency, as well as PI for two studies associated with EPI-743: one for compassionate use in patients with mitochondrial disease at end of life, and another in the treatment of Leigh syndrome. Advancing research in clinical trials is essential for identifying therapeutic treatment options for mitochondrial disease and its associated symptoms.
Past Research Highlights
A New, In-House Test for Diagnostic Data
In February 2021, the Department of Laboratories at Seattle Children’s Hospital began offering Mitochondrial Respiratory Chain Enzyme Analysis in muscle for patients suspected of having mitochondrial disease. This allows, for the first time ever, muscle biopsies to be collected and analyzed on site at Seattle Children’s, leading to faster diagnosis and customized treatment. This laboratory test, developed with funding from the Mitochondrial Research Guild, can provide supporting evidence for a diagnosis of mitochondrial disease in patients with clinical symptoms and negative or inconclusive DNA results. This is a powerful diagnostic resource for patients and families who are dealing with the ambiguity that often accompanies suspected mitochondrial disease.
Customized Anesthesia Protocols for Mitochondrial Disease Patients
The Mitochondrial Research Guild has invested in the Morgan Laboratory, led by Phil Morgan, M.D. Dr. Morgan’s research has focused on the mechanisms that determine sensitivity of mitochondria to anesthesia. Findings from the Morgan Laboratory have led to the development of custom anesthesia protocols now utilized on all children with mitochondrial dysfunction at Seattle Children’s. Children with mitochondrial disorders have a high likelihood of undergoing a surgical procedure at some point in their treatment, and are at higher risk for complications from anesthesia. The protocol put in place as a result of research led by the Morgan Laboratory, working in close collaboration with Margaret Sedensky, M.D., allows doctors to tailor the dosage and type of anesthetic used to provide the lowest dosage and best outcomes possible for children with mitochondrial disease.
Mito Guild Grant Program
The Mitochondrial Research Guild has issued over $400,000 in small grants to encourage exploratory/developmental small research projects directed toward winning the battle against mitochondrial disease. Investigators new to this field, including junior researchers and post-doctoral fellows, were encouraged to apply for this funding. Although this grant program is no longer offered, it supported early efforts of several researchers who are still established at Seattle Children’s to this day.