Genetic & Immune Research Open Pathways for PANS & All Forms of Autoimmune Encephalitis
Columbia & Stanford
Dear PANDAS Families,

Advocacy is producing profound results for our PANDAS-PANS Basal Ganglia Encephalitis (BGE) Disease Model. It has been, and continues to be, a hard fought battle for all involved.

Last week, Stanford University received a tremendous $2.4M gift establishing the Tara and Dave Dollinger PANS Biomarker Discovery Core . This is a critical step forward to advance this, currently, rare disease. Congratulations to the Stanford PANS Clinic Team who will make this an repository open and accessible to other researchers. This will allow larger cohorts of children to be looked at and will accelerate research greatly. Thank you to all involved! This breakthrough gives us all optimism as we usher in 2021. Also, expanding genetic work by Stanford and other teams will be greatly improved. As we learn more about how samples will be shared we will keep families informed.

WHAT IS New & Exciting in PANDAS-PANS-Basal Ganglia Encephalitis (BGE) Research? In all forms of Autoimmune Encephalitis (AE) the question remains: What initial cause primes the body for this insult? And what causes exacerbations? The work we do for PANDAS-PANS (BGE) is impacting all forms of AE. The researchers are looking for a autoimmune cells, bcells & tcells, that are suddenly stimulated by the infection. Genetics of PANDAS-PANS (BGE) youth are at play for sure (because not everyone who gets an infection gets AE) and this is increasingly being considered for other AE types.

Columbia's work on PANDAS-PANS (BGE) mouse model created a breakthrough for all forms of AE by showing that an infection (in this case strep bacteria) can generate autoimmune cells (Th1 and Th17) that can open the blood brain barrier and cause relapsing, remitting behavioral and neurological symptoms. The big question has been - does the illness stop in childhood or can it continue? What role do genetics play in the PANDAS-PANS (BGE) disease course? Many children do heal but in recent years we are seeing new instances of relapse in a small percent of young adults.

To answer this question in part, PANDAS Network is pleased to announce a $40,000 Award for the Agalliu Lab given by an anonymous donor for the purposes of expanding Genetic Research into PANDAS-PANS (BGE). Together with your year end $20K Matching Gift, we will be able to continue expand our research and awareness campaign in 2021.
Read carefully below the words of our Award Recipient, Dr. Dritan Agalliu, and how PNetwork will collaborate regarding young adults we have identified for this research. Gene candidates will also be studied in mouse model in order to "simulate" how certain genes play a role in impacting mental and neurological affects in young people.

Thank you for you courage! May 2021 bring us more Healing & DISCOVERY....and Happy, Safe Holidays to you and yours.

Warm Wishes,
The PANDAS Network Board of Directors & Scientific Advisory Board
Columbia Genetic Research in Young Adults with PANDAS-PANS (BGE)
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.

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.
Lectures on Genetics and Autoimmune Encephalitis from PNetwork website