People to meet and things to do at the MTM-CNM Family Conference!
MTM-CNM Family Conference 2015
2015 Conference Theme
We're pleased to announce the following speakers for the MTM-CNM Family Conference:

Alan Beggs, PhD, Professor, Boston Children's Hospital

Johann Bohm, PhD, Researcher, Institut Génétique Biologie Moléculaire Cellulaire

Ana Buj Bello, PhD, Group Leader, Genethon

Martin "Casey" Childers, DO, PhD, Professor, University of Washington

Sabine de Chastonay, PhD, Research Associate, Cure CMD/CMDIR

Soma Das, Ph.D, Professor Director, Clinical Molecular Genetics Laboratory, University of Chicago 

Jim Dowling, MD, PhD, Researcher and Neurologist, Hospital for Sick Children

Casie Genetti, MS, Genetic Counselor, Beggs Laboratory Boston Children's Hospital

Michael Goldberg, MD, Neuroradiologist, Allegheny General Hospital and President, RYR-1 Foundation

Hernan Gonorazky, MD, Clinical and Research Fellow, Hospital for Sick Children

Mike Lawlor, MD, PhD, Researcher and Neuropathologist, Medical College of Wisconsin

David Mack, PhD, Researcher, University of Washington

Matt Patterson, President and CEO, Audentes Therapeutics

Suyash Prasad, MD, Senior Vice President and Chief Medical Officer, Audentes Therapeutics

Markus Renno, MD, Pediatric Cardiology Fellow, Vanderbilt University

Barbara Smith, PhD, Physical Therapist/Researcher, University of Florida

Barbara Wuebbels, RN, Vice President of Patient Advocacy, Audentes Therapeutics


New assessments to test the ability to move in individuals with x-linked MTM



Recently, we shared an opportunity to connect with researchers from Nationwide Children's Hospital at the Family Conference, which you can read about in one of our previous newsletters here.


If you would like to participate in these assessments, please contact Tristen Moors, from Audentes Therapeutics, for more information or to sign up for a spot (Thursday, July 23 evening and Friday/Saturday, July 24-25):

415.660.7221 or  

Rare Disease Longitudinal Study

In our last newsletter, we shared that the team from the University of Florida will be at the conference to perform research breathing tests. You may read the flyer for the study at

If you are interested, please email  Lee Kugelmann at or Terry Sexton at   for more information and to schedule a time to have the breathing tests. There are only 7 or 8 time slots left, so please contact them as soon as possible.
Medical Product Focus Group

Conference Sponsor Philips Respironics (maker of the CoughAssist and Trilogy ventilators as well as other products for sleep and respiratory care) will be conducting some small focus group sessions immediately prior to the conference to gather input and feedback for a next-generation ventilator and related accessories.  Pre-registration is required.  Contact for more information.
Casey Childers 2013
Dr. Casey Childers wowed us with his guitar and singing skills in 2013!
Talent Show Night

While the MTM-CNM Family Connection is committed to connecting families to research and resources, we are equally committed to connecting families to deeper relationships with each other and with the wonderful doctors and researchers.

In this spirit, one of our fun conference traditions since the 2011 MTM-CNM Family Conference is the Talent Show, which takes place after dinner on Saturday night!

This will be a wonderful time for families and researchers to mingle in a friendly setting and enjoy each other's unique gifts! You might want to sing a song, tell a funny story, play the kazoo, act out a skit, blow raspberries, etc.--the point is to just have fun with it! We encourage everyone to participate!

Please contact us via the conference email,, with the heading "Attn: Shannon Mashinchi Re: Talent Show" to sign up your family or group! 

Don't be shy! Go ahead; sign up now and you can think up your skit/talent later!

Thanks again for your continued support!

We trust that all of us together can make this a great and memorable event!


The MTM-CNM Family Conference Planning Team
MTM-CNM Family Connection, Inc.
MTM-CNM Family Connection, Inc. | Email | Website