Submitted by Penny Peck on Mon, 25/07/2022 - 12:05
On Saturday, 9 July 2022, Drs Michal Minczuk, leader of the MBU's Mitochondrial Genetics research group and Pedro Silva-Pinheiro, postdoctoral researcher in this group, attended The Champ Foundation's 3rd Pearson Syndrome Conference at Mitochondrial Medicine Center, Children’s Hospital of Philadelphia (CHOP).
Pearson Syndrome is a rare primary mitochondrial disorder due to a mitochondrial DNA deletion. While each case is different, individuals are often at risk of anemia, impaired vision, hearing loss, cardiac rhythm disturbances, endocrine dysfunction, pancreatic insufficiency and kidney problems.
The conference was attended by families of affected children, researchers and clinicians specialising in Pearson Syndrome and other charities including The Comini Foundation and Pledge 4 Pearson - The Luca Gargiulo Pearson Foundation.
The Champ Foundation and The Comini Foundation support research led by Michal Minczuk on in vivo models and treatments of diseases caused by single mitochondrial DNA deletions.
Pedro and Michal presented their early data on an mtDNA deletion mouse model.