Enroll in Research

Here are a few researchers working on Titin that you can contact:

Beggs Laboratory
Boston Children’s Hospital
Casie Genetti, Genetic Counselor
Ph: 617-919-2169

Study of atypical titinopathies, including persons with skeletal or cardioskeletal symptoms and single TTN variants.
Jen Roggenbuck, MS, CGC (Genetic Counselor)
Ohio State University

Gene and heart disease research:
Prof. Diane Fatkin, MD
Victor Chang Cardiac Research Institute and St Vincent’s Hospital, Australia

For help with diagnosis:
Prof Bjarne Udd, MD, PhD
Tampere Neuromuscular Center
Folkhälsan Research Institute, Helsinki

Titin research publication library hosted by Cure CMD see here.

Please enroll in The Congenital Muscle Disease International Registry!

Your data has power! Please enroll in the CMDIR.

For people with Centronuclear Myopathy Subtype of Titinopathy

There are several other registries relevant to myotubular and centronuclear myopathy which also have global coverage, and it can be hard to know which one to join. This choice is up to you; and if you are eligible, you can join as many registries as you like. We all work together to achieve our goals.

Whether you join one registry or all of them, it is very important that you complete all the information fully and keep it up to date when prompted. This helps us to understand your data correctly and avoid double-counting if we do research together in future.

You are now on the website for Team Titin which supports the Congenital Muscle Disease International Registry:

You can use the links below to learn more about the other registries available for these conditions, and whether you are eligible to join: