CureARS Non-profit collaborates with Children’s Hospital of Philadelphia on a Drug Repurposing Research Project
After being told there is no approved treatment for their children’s form of mitochondrial disease, these parents are funding research that could lead to life-saving treatments for their children and others affected.
RARITAN, NJ, October 5, 2022 – CureARS Non-profit is excited to announce the official launch of a pre-clinical research project with the research team led by Marni J. Falk, MD, Executive Director of the Mitochondrial Medicine Frontier Program at Children’s
CureARS presenting a check to Children’s Hospital of Philadelphia on September 20th, 2022. Pictured left to right: Ashley Rowland, Co-founder of CureARS; Desiree Magee, Co-founder of CureARS; Dr. Marni Falk, Executive Director of the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia.
Hospital of Philadelphia (CHOP). The aim of this innovative research is to establish and study a full set of animal models for all 19 mitochondrial aminoacyl tRNA synthetase (ARS) genes and to evaluate potential therapies in these models via high-throughput screening. Drug repurposing involves the study of existing drugs and using them for a medical condition different from what they were originally developed. This strategy offers an expedited and cost saving route to developing new clinical treatments in comparison to traditional drug development. High-throughput screening for this project will examine several thousand already approved FDA drugs and natural product compounds to test their comparative safety and effectiveness.
In 2021, CureARS was established by Desiree Magee and Ashley Rowland, two parents with the goal of saving their kid’s lives and others affected by mitochondrial ARS disorders. Daphne Magee (7 years old) and Aubrie Rowland (4 years old) are both diagnosed with a neurodegenerative mitochondrial disease caused by different mutations in one of the mitochondrial ARS genes. Mitochondrial disease in general affects at least 1 in 4,000 individuals, yet there is no currently approved treatment option or cure, and funding for translational research to identify new therapeutic candidates for major subclasses of mitochondrial disease has been limited.
“CHOP gave our family hope that not only could we push science forward for my daughter and others affected, but we might be able to identify life-saving treatments within her lifetime.”
–Ashley Rowland, Co-Founder of CureARS.
Mitochondrial ARS genes are essential for the cell to make proteins within the mitochondria, and inherited mutations in these genes each causes an ultra-rare type of Mitochondrial (‘mito’) Disease. Mitochondrial Disease disrupts how the body metabolizes food and oxygen to produce the energy that cells and organs need to function. Mito disease most often develops in children, but can affect adults, impacting their growth, their ability to walk, stand, talk, eat, and coordinate fine and gross motor functions. Mito disease can also impair other high energy organs, such as the heart, kidney, liver, vision, hearing, and gastrointestinal tract. Currently, there is no approved treatment or cure for any of the inherited ARS disorders.
“We are very excited to have this opportunity to partner with the CureARS Foundation to take a global approach to understanding all of the ARS2 disorders using C. elegans animal models and will confirm lead findings in both zebrafish animals as well as in cell lines from affected ARS2 patients,” said Dr. Falk. “New therapies are sorely needed that we hope to identify through this translational research program in an effort to improve the health of all individuals living with the ARS2 class of mitochondrial disease.”
About Mitochondrial Medicine at Children’s Hospital of Philadelphia (CHOP)
Picture left to right: Daphne Magee (7) and Aubrie Rowland (4) both affected by rare types of mitochondrial (‘mito’) disease. Daphne’s type of mito disease is called Leukoencephalopathy with Thalamus and Brainstem Involvement with High Lactate (LTBL) caused by an EARS2 gene mutation. Aubrie’s type of mito disease is called Leukoencephalopathy with Ovarian Failure (LKENP) caused by an AARS2 gene mutation.
Mitochondrial Medicine at Children’s Hospital of Philadelphia (CHOP) is emerging as the premiere center in the world for multidisciplinary clinical care, advanced diagnostics and therapies, and individualized basic, translational, and clinical research programs dedicated to improving the health of patients of all ages living with mitochondrial disease. The program is part of the Division of Human Genetics within the Department of Pediatrics.
Mitochondrial Medicine is designated a Frontier Program by CHOP. Frontier Programs are unique, cutting-edge programs that will forge important new discoveries, deliver novel therapies, and help even more children and adults thrive. “We are committed to providing state-of-the-art clinical care, married with rigorous clinical research assessments and family partnerships to better understand and identify meaningful outcome measures for the many different subclasses of primary mitochondrial disease,” said Dr. Falk. “This holistic approach positions us strongly to rapidly and effectively evaluate therapeutic leads that we identify from our preclinical translational research laboratory program in the very children affected with these rare disorders”.
To learn more about the Mitochondrial Medicine Frontier Program at CHOP, please visit www.chop.edu/centers-programs/mitochondrial-disease-clinical-center/about.
About CureARS A NJ Non-profit Corporation
CureARS is a 501(c)(3) non-profit organization that is 100% volunteer based. The mission of CureARS is to spread awareness, connect and provide support to affected families and fund disease research for the mitochondrial ARS genes. CureARS seeks to unite the different research efforts on the individual disorders within the group of ARS genes and focus on the family of genes as a whole. All funding raised from donors, events and other avenues will be applied to specific research projects. Research projects are carefully selected with the goal of identifying treatment options and eventually a cure.
CureARS Programs include patient support initiatives, an IRB approved patient registry with the Coordination of Rare Diseases (CoRDs) at Sanford Health, an international scientific symposium, various fundraising events, partnerships with several patient advocacy groups, and partnerships with genetic testing companies to connect newly and past diagnosed families. For more information and to join the community, please visit www.curears.org.
To learn more about this research, please visit: https://www.curears.org/chop-drug-repurposing