Cure JM Foundation 2018 National Family Conference Recap

Children's Hospital of Philadelphia Research Participation Opportunity

Blood Draw for Genetic TestingChildren's Hospital of Philadelphia took blood and saliva samples for a research study to identify the genes that play a part in Juvenile Dermatomyositis.

Researchers and phlebotomists from the Center for Applied Genomics (CAG) at Children's Hospital of Philadelphia (CHoP) attended the Cure JM National Family Conference to collect biospecimen samples from Cure JM families. Families contributed these samples to support a study that seeks to identify the genetic markers that play a part in Juvenile Dermatomyositis (JM).

This is the second time Cure JM families have contributed to this long-term study. Cure JM invested in this genetic discovery program at the CAG, which is led by Hakon Hakonarson, PhD, MD and Charlly Kao, PhD. With their state-of-the-art sequencing facility and biobank, the goal of the study is to discovery specific genes that associate with JM and to develop an understanding of why mutations in those genes can contribute to development of JM and autoimmunity. Ultimately, this understanding can lead to drug interventions that aim to rebalance or correct the functional consequences when these genes are dysregulated or mutated.

“When conducting rare disease research, being able to collect samples from so many families in one weekend is a unique opportunity,” says Dr. Kao.  “We were pleased that after just two visits to Cure JM conferences that we already collected samples from 300+ different individuals representing over 70 families. This speaks to the commitment, support, and enthusiasm of the Cure JM organization and their families, and we at the CAG are excited at the prospects of being able to utilize this valuable resource in helping to drive research into finding the genetic factors for JM to better understand the underlying causes of the diseases, which would then aid in the development of new diagnostic tools and treatments."

At the conference, families filled out medical and family history paperwork and then gave blood or saliva. These samples were collected from JM patients, their siblings, parents, grandparents, and extended family.

“Having families participate in research at the Cure JM Conference was a great opportunity,” said Kate Ettingoff, President of the Philadelphia Chapter of Cure JM.  “I would like to thank CHoP, and all the nurses, phlebotomists, and researchers that are giving so much of their time and energy in support of Juvenile Myositis patients. As a parent, I truly appreciate their time and efforts.”

Dr. Rodolfo Curiel, MD, FACP, FACR, is the Program Director of the Rheumatology Fellowship, the Director of the GW Myositis Center. He shared this about the study, “Although a lot is known about symptoms, diagnosis and treatment of juvenile myositis, the underlying reason why a person develops the disease is still unknown. Research has shown that genetic and environmental factors contribute to the pathogenesis of Juvenile myositis. Collecting blood samples for genetic analysis from families and patients of this rare and devastating disease is of paramount importance to determine why some people get the disease or why a particular drug is effective and safe in some persons but not in others.”

Watch Dr. Kao’s update on the JM genetic discovery program below: