New Year’s Challenge Brings in $25,000 for CMD research
2012 is starting off with a bang- $14,910 raised in response to a $10,000 challenge by Cure CMD’s Chair, Anne Rutkowski, nets $25,000 for research!
Consider setting up a monthly donation through our donation page to help us reach our 2012 goal to raise $500,000!!
Phoenix Team Rolls in $3240 towards CMD research
Phoenix team led by Ann Schrooten, family and friends rolls in over $3,000 for CMD research. A big thanks to all who participated!
Cure CMD Funding Priorities for 2012
Cure CMD 2012 Funding: CMDIR Project Manager, the Myomatrix 2012 Scientific Conference, an LMNA-CMD iPS cell line and CMD Comparative Outcome Measure Study (CMD COM-Year 3).
Cure CMD funds $245,000 in CMD research in 2012!
Cure CMD announces 2012 Grants for research in LMNA-RD (Lamin A/C related dystrophy), LAMA2-RD (Laminin alpha 2 related dystrophy), COL6-RM (Collagen VI related myopathy) and aDG-RD (alpha dystroglycan related dystrophy).
Upcoming CMD Family and Clinician Webinar: March 24th, 2012
Save the date! Webinar on Breathing Issues and Respiratory Management to take place on March 24th, 2012.
Omigapil pK Study Slated for 2012
Santhera Pharmaceuticals, Cure CMD, UCL/GOSH (Prof. Muntoni), NNDCS/NINDS (Dr. Bonnemann) and Endostem announce decision to proceed with an omigapil pK study in LAMA2 related CMD (Merosin/MDC1A) and Collagen 6 related Myopathy (UCMD, Collagen VI myopathy). For more information, read below
CMD Perspectives: A Journal
Join us each month as we publish CMD perspectives articles to highlight how we live our lives, and tricks we have learned to get by and make our lives easier. This month, Anne Schrooten and Joe Pinkelman lend their perspectives on the importance of connecting, whether through talk, touch or sign language; ways in which we must slow down to understand each other. To contribute to CMD Perspectives, email erin.mcguirk@curecmd.org
Do you know about BiPAP?
To learn more about BiPAP
Click here to watch Luke Hoban’s video on living with CMD and BiPAP
Click here to watch Luke’s interview of Lucinda Rosso to get the parent perspective
We would like to thank Luke Hoban, Lucinda Rosso, Meera Gandhi and Sarah Dillon for making these videos possible
New to Cure CMD?
This year’s goal is to register the global CMD community.
Take a moment to register on the CMD International Registry (CMDIR), www.cmdir.org
CMDIR in French, German, Spanish, Portuguese and English. Turkish, Chinese and Danish coming soon.
Nicolas’ story
Nicolas is 4 years old. He was recently diagnosed with L-CMD a muscular disease caused by a mutation in the LMNA gene. L-CMD is a muscle wasting disorder that also leads to breathing and heart problems. My husband Ruben, myself and our 4 children live in Florida. We are still trying to cope with this diagnosis. Continue reading Nicolas’ story
CMD Perspectives: A Journal
Nov 30, 2011: Assistive Technology
By Joe Pinkelman
Our daughter Maia is mute, but can hear perfectly well. She is also mentally delayed, so to add to the fact that she can’t talk, her response time is slow. Her first one-on-one aide decided that she was going to teach her sign language. More…
Read All CMD Perspectives Articles
Current Trials and Studies
Apr 15, 2010: For up to date information on CMD and LGMD clinical studies and trials
Trials and Studies Archive
Cure CMD Research News
Dec 27, 2011: Cure CMD funds $245,000 in CMD research in 2012!
Cure CMD announces 2012 Grants for research in LMNA-RD (Lamin A/C related dystrophy), LAMA2-RD (Laminin alpha 2 related dystrophy), COL6-RM (Collagen VI related myopathy) and aDG-RD (alpha dystroglycan related dystrophy).
Dec 27, 2011: Cure CMD teams up with LGMD2iFund to develop antibodies for aDG-RD
The project led by Professor Glenn Morris and Dr. Sue Brown with assistance from Dr. Andrea Brancaccio will use 3 distinct approaches to develop additional antibodies to stain the protein αDG in the muscle membrane. More…
Dec 27, 2011: Cure CMD 2012 Grant Funding
William Cruikshank, PhD (Boston University) received $25 K two year grant award to study breathing issues in the DyW mouse model of LAMA2-CMD (MDC1A, Merosin Def CMD). The 2 main goals of this study are to investigate whether the mouse model suffers from progressive breathing problems and thus models human disease and whether a pharmacologic treatment, NBD (an NKFκB inhibitor) shown to improve the disease in mouse also improves breathing parameters. In addition, the study will evaluate smooth muscle involvement of the airways in the animal model.
James Dowling, MD, PhD (University of Michigan) receives $35K for one year of funding to evaluate 2 stable CMD zebrafish models, the LAMA2-CMD model (caf) and recently created COL6-RM model. Dr. Dowling’s study will evaluate both models thoroughly, creating an open access database to enable sharing of his data in these and other congenital muscle disease zebrafish models (RYR1-RM and MTM) with the global scientific community. Both the caf and COL6 zebrafish model will undergo medium throughput screening using the FDA approved Prestwick drug library to identify classes of drugs that highlight new mechanisms to target and potential therapies. Dr. Dowling just completed published work in the nebulin and ryanodine receptor zebrafish models.
Gisele Bonne, PhD (INSERM, France) receives $40K two year annual award to study a new gene therapy approach called RNA trans-splicing in 2 models of LMNA related dystrophy. Dr. Bonne originally identified the LMNA gene and has created two models: one replicating Emery Dreifuss muscular dystrophy and the other, replicating LMNA-CMD. The study aims to investigate whether this type of gene therapy that targets RNA, not DNA, provides a lasting correction to the 2 mouse models.
Dec 17, 2011: What is the CMDIR & How Do I Register?
Nov 21, 2011: Support ABLE Act
We’re calling all members of our MDA community to support the Achieving a Better Life Experience (ABLE) Act of 2011, which helps Americans with disabilities save money for the future.
On November 15, Representatives Ander Crenshaw, R-Fla., Cathy McMorris Rodgers, R-Wash., and Senator Robert Casey, D-Pa., introduced the ABLE Act (H.R. 3423/S. 1872) in the U.S. House of Representatives and U.S. Senate. The proposed act amends section 529 of the Internal Revenue Code of 1986 to provide for the establishment of “ABLE accounts” for the care of family members with disabilities. ABLE accounts encourage and assist individuals and families in saving private funds that can be used to support the health, independence and quality of life of the person with a disability.
Qualified disability expenses include:
- education, housing, transportation, employment support, health and wellness, assistive technology, personal care attendant support, miscellaneous expenses, and other approved expenses.
Please contact your members of Congress, and let him/her know that you support H.R. 3423/S. 1872 because it assists individuals with disabilities in achieving desired levels of independence and success.
Click here to access MDA tool to contact Congress
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