JUNE 24,
2017

MTM-CNM Family Conference
July 21-23, 2017 in Nashville, Tennessee

In addition to connecting families to each other to form supportive networks, our mission is also to connect families in person to the top researchers in potential MTM-CNM treatments in order to get them acquainted with the latest advances in medicine, treatments, and assistive technology, and to facilitate family participation in the various studies that will push research forward. 

Dr. Alan Beggs of Boston Children's Hospital and Harvard Medical School has been a long-time researcher into the cause and possible treatment for several ccongenital myopathies and Myotubular Myopathy in particular. Our team is grateful for him and we are happy to share two opportunities at the 2017 MTM-CNM Family Conference for families to contribute to his important work, which will potentially help our particular rare community as well as the wider community affected by congenital myopathies. 


Molecular and Genetic Studies of Congenital Myopathies
Alan Beggs, PhD, Boston Children's Hospital/Harvard Medical School

In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth). The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. Study enrollment can be done in person or remotely and includes: 
  • Informed consent conversation and paperwork with a member of the study team
  • Family and health history questionnaire 
  • DNA sample collection  
  • Collection of medical records, pathology slides, and muscle tissue if available
Please contact Casie Genetti or  Neeha Nori or call  617-919-2171 for more information, or stop by our table at this year's conference. 


MTM1 Carrier Study
Casie Genetti, MS, CGC, Beggs Laboratory Boston Children's Hospital

The Beggs Lab invites any mother who has a child genetically diagnosed with congenital myopathy, including MTM1 or other genes, to complete a questionnaire about their medical history and current abilities.  Researchers are looking to survey: 
  • MTM1 carriers who have a son with XLMTM
  • Women who are not MTM1 carriers, but have a son with XLMTM
  • Women who have a child with congenital myopathy due to a genetic change other than MTM1, such as DNM2, RYR1, BIN1,etc.
We hope to learn more about what symptoms, if any, mothers of children with congenital myopathies may have, to be better able to characterize the impact of MTM1 mutations on the body. 
Please contact  Casie Genetti or  Neeha Nori or call  617-919-2171 for more information, or stop by our table at this year's conference. 

More info is available in the flyer on the MTM-CNM Family Connection  website.



Conference Registration
New Rates!

Registration is required for all conference attendees, and registration closes on July 4th, so don't miss out!   As previously announced, the registration rates have increased as of today.
Our registration fee schedule is as follows:
  • Individuals diagnosed with MTM/CNM....Free
  • Adults 18 and over..........................................$100 -> now $125
  • Children 12-17...................................................$50 -> now $65
  • Children 4-11.....................................................$25 -> now $40
  • Children 0-3.....................................................Free

Invoices will be emailed after you register and must be paid no later than July 7th.

Families joining our  Crowdrise fundraising team  can get $100 off of their family registration for every $500 they raise!