top of page

Unraveling the Etiopathogenesis of SPATA5/SPATA5L1 Polymorphisms-Associated Clinical Manifestations

Tapas Mukherjee and Dana Philpott from University of Toronto, Canada are ready to start recruiting for their research project: Unraveling the Etiopathogenesis of SPATA5 / SPATA5L1 Polymorphisms-Associated Clinical Manifestations.

What does that mean? Research focused on the overall cause of the disorders. We know the mutated genes cause everything, but what happens when these genes are mutated? What function is interrupted? Tapas & Dana are setting out to solve this question, but they need OUR help!

Want to Participate?

We encourage everyone to participate! It will involve gathering medical records, blood samples, and they may do some skin samples in the future as well.

If you'd like to participate, PLEASE follow these steps:

Email Tapas Mukherjee at with the subject line "SPATA Research" and tell him you'd like to participate in his SPATA5 and SPATA5L1 research.

Tapas will send you additional information on the study & a consent form to sign. This consent form will allow their institution to contact you and your doctors. We recommend giving contact information on your Neurologist, Geneticist, and Primary Care Physician. You're welcome to include any other doctors you feel are essential to get a complete history.

Once you have the form filled out, please email it back to Tapas.

bottom of page