Breakthrough Genetic Research

A Pivotal Study by the Agalliu Lab of 44 patients (22 with SC and 22 with PANDAS) provides Crucial Initial Evidence that strep bacterium are conclusively at work in PANDAS.

As there are members of the medical community who dispute strep is involved with PANDAS, this study is a crucial step in proving that it is an important causative bacteria. Also, with SC, whose tragic symptoms are found in Developing Countries, the genomics have not been elucidated. This breakthrough can serve both the Western World and Developing Countries in recognizing and eliminating both PANDAS and SC.

SC is rare in the U.S. and under diagnosed due to providers’ inexperience in the U.S. when compared to health care providers in the Developing Countries that see a larger prevalence of SC. PANDAS, as we all know, is also under recognized despite consortium published diagnosis and treatment guidelines.

Dr. Tyler Cutforth, Research Scientist, Columbia U, Agalliu Lab, is the Chief Investigator for this study.  Credit also goes to Charlotte Wayne, a graduate student at the lab, plus collaborators Michael Gonzalez and Hakon Hakonarson at CHOP.

Dr. Cutforth states:

“We conducted this study using a combination of whole-exome sequencing and genome-wide association studies. We have identified two candidate genes in human PANDAS/SC patients (all from the Children’s Hospital of Philadelphia (CHOP), Center for Applied Genomics) that seem to implicate immune function and T cell regulation in these diseases (we call PANS/PANDAS/Sydenham’s collectively as post-infectious basal ganglia encephalitis).  We have also validated these genes preliminary in our mouse PANDAS model.

These genes are also completely different from risk genes recently described for the related diseases anti-NMDA receptor encephalitis, anti-Caspr2 encephalitis and anti-LGI1encephalitis, meaning that these illnesses likely have distinct biological origins and mechanisms and therapeutic targets.”

PANDAS Network Community: Recognition that this is a unique from of encephalitic disease and deserves treatment is what the purpose of our advocacy is all about. With this blood sera further work on the types of autoimmune activity, t-cells, b-cells, histamines, proteins, etc in PANDAS patients can be performed. Let’s race to the finish line and mark this illness off the “rare list.”

WHAT’S NEXT? The lab will now continue to investigate with the blood sera of 13 PANDAS patients from Columbia PANDAS Clinic plus >100 cases from Univ. of South Florida (Dr. Tanya Murphy). The goal is to quadruple the sample size and get more gene hits. And in the next 2-3 years is 300-400 cases. Research Funds are need of $50K to test 100 more cases and, more, for any additional related research.

CAN YOU SEND IN BLOOD SERA and be part of this 300-400? For the purposes of this specific study you must have a diagnosis of PANDAS. You will NOT GET RESULTS BACK as to whether you have these genetic markers but you would be furthering science and for that…the PANDAS Community Thanks You! Please contact the study coordinator, Nicole Ampatey, at na2718@cumc.columbia.edu for information on required paperwork and testing required. (see flyer below)

IF YOU ARE NOT SURE IF YOU HAVE PANDAS or PANS and need diagnosis and treatment, below is the PANDAS Clinic recruitment flyer. To initiate the process of joining the study, please make an appointment with either Wendy Vargas, Jennifer Bain or Robert Fryer through the Columbia Doctors web site.

*A candidate gene is a gene that is believed to harbor alleles causing or contributing to a complex phenotype, based on an a self-evident understanding of that gene’s biochemical function or mutant phenotypes associated with that gene. From: Encyclopedia of Genetics, 2001.

Link to PANDAS Research Study Flyer