PROJECT BACKGROUND
At the time of the initial donation made by PNetwork, 2018 genetic research, Dr. Tyler Cutforth, Associate Research Scientist with the Agalliu Lab at CUMC and Chief Investigator of this study with Children's Hospital of Pennsylvania (CHOP) stated,
“Our goal is to quadruple the sample size of the patients in order to get more gene hits. In the next 3 years we would like to reach 300-400 cases.” Thus far 70 patients have been tested as well as many controls. This $40K gift will increase the cohort greatly towards the goal of 300 cases.
PANDAS Network and several PANDAS/PANS consortium doctors have been following approximately 200 children for up to one decade. A small portion of these children (approximately 50 youth or 25% of the group) had some form of relapse while in college in the last two years.
The formerly adolescent patients who have moderately relapsed now as young adults (ages 18-20+) have been without distressing symptoms until their recent exacerbations. Currently the majority of the young adults are greatly improved after receiving continuous and various forms of treatment from PANDAS-PANS specialists.
PROJECT GOAL
The genetic material of these youth who were diagnosed with PANDAS/PANS (BGE) will increase the sample size of cases with post-infectious BGE and will strengthen the original study performed by the Agalliu (CUIMC) and Hakonarson (CHOP) teams in identifying genetic risk factors for post-infectious BGE.
Initial research using whole exome sequencing has identified several genes that are likely associated with post-infectious BGE These genes had the capacity to alter expression in cell types and have been found to play a role in disease pathogenesis using mouse model experiments. (For an interesting lecture on cell types and biomarkers from this research see Dr. Cutforth's lecture below).
Identifying risk factors for post-infectious BGE has the potential to uncover new biomarkers for precision medicine that should be relevant for other autoimmune encephitides. This will lead to new therapeutics to assist in treatment strategies for families, of which there are currently few and with limited clinical efficacy.