June Newsletter From Your Friends @ the

Hypertrophic Cardiomyopathy Association
 
Issue: # 4
JUNE 2009
Heart Link
HCMA logo 
Official Newsletter of the HCMA 
In This Issue
GENETIC RESEARCH
AED LEGISLATION
TWITTER US

http://twitter.com/HCMAUSA
 
FACEBOOK

Petition

3 Things Quality Healthcare MUST Include
Join Our List
Join Our Mailing List
HCMA
Annual Meeting
 
Get Ready 2010!

 
 
  
 
Dear

Summer is determined to break through the clouds, despite three weeks of rain, rain, rain here in the Northeast. A lot like the recent efforts made both in the scientific and governmental communities regarding HCM. Looks like sunny days are ahead, take a look:

  •  HCM Genetic Research being done at Harvard. There has never been a more exciting time for the role of genetic testing in HCM  The discovery of the gene defects responsible for HCM is a major scientific advancement toward understanding in precise terms, the basic cause of HCM.
  • AED Legislation Passed by the the U.S. House of Representatives: The HEARTS Act is another step closer toward saving lives with a fully funded emergency response plan in schools, should there be a child suffering from SCA.
The Annual Conference and Golf Outing was, by all accounts, a success. Not only was it energized with the latest research and information, but everyone seemed to agree, the Hamilton Park Hotel was a terrific choice. And wasn't the speech by Dr. Brunwald uplifting? We are glad you were satisfied with the results. But believe it or not, we are already working hard to make 2010 event better by devising innovative ways to ensure EVERYONE has access to attending. More on that next time.

Please continue to share "your story of HOPE"  on Facebook  or our Message Boards about your own personal HCMA story, so that we can spread the word to raise awareness. "Real" people have to share "real" stories get the media's attention.

Sincerely,
 
Lisa Salberg 
CEO & Founder
 
 
GENETIC RESEARCH: HCM Study Now Enrolling

The HCMA is happy to partner with the Seidman Laboratory and offer our membership an opportunity to participate in genetic research. The Seidman Research Laboratory is currently enrolling subjects in a research study looking for new gene mutations in HCM patients who have previously undergone HCM genetic testing with negative results (i.e. no mutation was found/identified).
 
Inclusion Criteria:
�         Clinical diagnosis of HCM (clinical records will be requested)
�         Have undergone Genetic testing at a commercial laboratory (LMM, GeneDx,  Correlagen,   PGX Heath etc. - copy of genetic results/reports will be requested)
�         Genetic testing -negative (No mutation found)
  
Study Requirements:
�         Blood sample
�         Informed Consent form for research participation - signed
�         Copies of cardiac records (ecg, echocardiogram reports) requested
�         Copy of previous genetic testing results requested

Drs. Christine and Jon Seidman and their colleagues at Harvard Medical School and Brigham and Women's Hospitalhave 20 years' experience in researching genetic factors that cause and/or contribute to Hypertrophic Cardiomyopathy (HCM). In 1990, the Seidman Lab identified a mutation in the myosin heavy chain gene, the first gene linked to HCM. Subsequently, over 700 mutations in 11 additional HCM genes have been identified. 

The participation of HCM patients and their family members in research based studies was critical in leading to the development of the first commercially available clinical genetic screening test, and has heightened awareness of the inheritable component of HCM. 

Several commercial screening tests are now available. Despite the numerous genetic discoveries known to result in HCM, there remains a substantial percentage (30-35%) of genotyped patients diagnosed with familial HCM, but lacking a genetic explanation. Investigators in the Seidman Laboratory continue to research genetic causes in individuals with HCM and negative genetic test results.

If you are interested in learning more about the study, please contact Dr. Seidman's office via nurses- Barbara McDonough or Libby Sparks  617-432-1006 [email protected], [email protected]

U.S. House Passes Important AED Legislation

The U.S. House of Representatives passed the Josh Miller HEARTS Act, bringing us another step closer to seeing the bill signed into law! Thank you for making your voice heard on this critical issue. This recent action by the House is proof positive that you and your fellow advocates are making a difference.

The Josh Miller HEARTS Act was prompted by the tragic death of a 15-year old high school student who suffered sudden cardiac arrest at school. It recognizes the importance of providing schools with the equipment and training necessary to save the lives of children and adults in the education community as part of an overall medical emergency response plan. If signed into law, the bill would establish a grant program to make that possible.

The next step is for the Senate to introduce the bill, which could happen as early as this week. We will need your help to rally the support of your Senators, so please stay tuned for upcoming opportunities to act.

To learn more, visit  http://www.stopcardiacarrest.org/media/sutton_bill.htm.