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Matters Of Heart - Spring 2012
Author

HELLO!

As we enter into this time of thanksgiving and family, we, at the LDSF, hope you are having time to slow down and enjoy some apple cider, pumpkin lattes, or whatever else does your heart good!

I have recently returned from the American Society of Human Genetics (ASHG) meeting, held in San Francisco, California, where I was highly encouraged by all the research presentations on LDS and related connective tissue disorders. Dedicated physicians and researchers around the world are compiling their patient data to expand our knowledge about the clinical features of Loeys-Dietz syndrome. They are finding new genes responsible for Loeys-Dietz syndrome, and they are looking into mouse models for further ways to understand the tgfbeta pathway and how we might be able to impact it through medications. It really is an exciting time in connective tissue research.

In the next few weeks, we're excited to share with you how your donations have made it possible to help support basic science research supporting LDS. It is through the generosity of all of our donors that we are able to keep providing research support, conference, and new LDS resources back to our community.

Thank you to all those who have given this year! Be it monthly giving, donating a birthday, a happy hour event or running in a 5K, we are so honored and encouraged by our members who are Taking Heart in support of the LDSF! Every dollar makes a difference and we hope you'll continue to support the LDSF through the rest of this year and beyond.

As alway, we thank you for your continued support and dedication to the LDSF.

Until next time, Take Heart.

Gretchen Oswald - President, Board of Directors, US Gretchen Oswald

IN THIS ISSUE

What's My Type?

 

With the discovery of the fourth gene responsible for Loeys-Dietz syndrome, there has been some confusion about the LDS–type naming system. The previously recognized naming system may be changed to more accurately categorize the similarities and differences between those individuals who have different genetic causes to their Loeys-Dietz syndrome.

see the LDS types and naming system

ASHGAmerican Society of Human

Genetics (ASHG) - Reviews

In November, more than 6,000 physicians, researchers, genetic counselors and genetics clinical and lab trainees attended the American Society of Human Genetics (ASHG) Annual Meeting in San Francisco, CA, to learn abou tthe newest research and discoveries concerning a wide variety of genetic topics.

 

What follows are brief reviews of oral and poster presentations exhibited during the conference. We are grateful to all those physicians and researchers who submited their experience with Loeys-Dietz syndrome to help further knowledge in the genetics community.

 

Heterozygous germline mutations in a prototypical TGF repressor causes Shprintzen-Goldberg syndrome with aortic aneurysm (A. Doyle, H. Dietz, et. al)—United States

 

Loss-of-function mutations in TGFB2 cause Loeys-Dietz syndrome: Towards solving the TGFbeta paradox in aortic aneurismal disease
(B. Loeys and H. Dietz, et al)—United States/Belgium

 

Unexpected extension of the phenotype spectrum associated with SMAD3 mutations in aneurysms-osteoarthritis syndrome (M. Auburt and C. Boileau, et al)--France

 

High incidence of SMAD3 mutations in thoracic aortic aneurysm and/or dissection patients (H. Morisaki and T. Morisaki, et al)—Japan

 

Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum (B. Chung and D. Chitayat)—Canada

LDSF Medical Advisory Council

 

At the 2012 Conference, the LDSF Medical Advisory Council (MAC) was introduced. This group of physicians will provide ongoing review of medical resources and guidelines created by the LDSF, help guide research initiatives and be available for education opportunities through the LDSF.

 

The initial MAC composition is based on having a diverse representation of medical subspecialties and geography with demonstrated experience with and commitment to patients with connective tissue disorders. We are also excited to promote our global vision by having representation from around the world. We are grateful for their availability, expertise and guidance.

 

At our first meeting, the MAC charged the LDSF Board of Directors with two major initiatives to move the LDSF forward and have significant impact on the health and quality of life outcomes for individuals impacted by LDS. The first initiative is the development of medical guidelines for the diagnosis and management of those with LDS. The second initiative is raising funds and providing infrastructure for the creation and management of a Research Registry, enabling us to capture medical history and imaging information to answer key clinical questions.

 

We are optimistic about moving forward with these initiatives and we are looking for key leaders within the LDSF community to potentially take the lead in driving the Research Registry initiative forward. Please contact Gretchen Oswald, President, at Gretchen.Oswald@loeysdietz.org for more information about getting involved.

see the members of the MAC

Baltimore, MD

Conference 2014

Our Board of Directors is pleased to announce that the next LDSF Conference will take place June 26 to 28, 2014 in Baltimore, MD.

 

This will be a time to gather with other patients, family members and medical professionals to learn about LDS, build support networks and cast a continued vision for the LDSF. Accomodation and registration details are in the works and more information will be coming out in early 2013. We hope you'll put the dates on your calendar now and plan to join us in 2014 for this exciting weekend.


Pavia, ItalyPavia, Italy

On October 5 and 6, Dr. Eloisa Arbustini hosted a conference at the University of Pavia (just outside of Milan) for Italian patients and medical professionals impacted by LDS and Marfan syndrome. Dr. Arbustini is a member of the LDSF Medical Advisory Council (MAC) and is a leading expert on connective tissue disorders. Currently, she follows 4,000 families with connective tissue and related conditions, as well as 116 patients with confirmed LDS.


During the conference, representatives of the LDSF, LDSF-Canada and the National Marfan Foundation (NMF) met with Italian patient groups to discuss patient advocacy and proactive patient approaches to care. Gretchen Oswald, LDSF President, presented on the current medical status of LDS and Johane Gauthier Galli and Joseph Galli, directors of the LDSF-Canada, presented on the collaborative roles of the Foundations in North America. Patients and medical professionals alike were interested in the presentations and enjoyed talking to LDSF representatives during breaks.


More than 300 individuals impacted by connective tissue disorders attended the day’s events, which included local speakers covering the state of the Italian advocacy initiatives, a host of medical panels and a private ballet fundraiser, staring Dr. Arbustini’s daughter.

 

A special thanks to Dr. Arbustini and her team, Cecilia and Valentina, for the wonderful hospitality and care received during our visit. Thanks to Cecilia, the English presentations were simultaneously translated in Italian for the group and she graciously translated the Italian presentations into English for the benefit of our LDSF representatives. Molto grazie!

LDSF Database - Sign Up Now!

The LDSF is working on cleaning up our mailing lists and database. Our database will be used to help us collect rough information regarding geographic regions of those impacted by LDS. We are encouraging all of our familes to register their children and other impacted family members to help us gather a more accurate regional picture of LDS.

 

To be included in our database, which allows us to contact you with future developments and updates, primarily by email, please complete our new membership form.

sign up for the LDSF database here

Forwarding This Email to Friends

We would love for you to forward this email to anyone you think might be interested in the happenings of the LDSF, but please only do so using the "Forward this email" link in blue at the bottom of this email. Per the Constant Contact system, if you simply select forward from your email program and the person you send it to tries to unsubscribe, it is you who will be unsubscribed. If you have a friend who might be interested in keeping up with the LDSF, you could also encourage them to fill out our database form (see link above). Thanks for sharing the work of the LDSF!

Volunteers Needed

As we enter this season of giving and service, the LDSF has some key volunteer needs! Any amount of time and skillset can make a difference in keeping this volunteer-run organization moving forward. Currently we are looking for the following volunteers:

 

  • Roadmap volunteers: Join a committee and help create essential materials that will impact those on the LDS journey at various age levels. Current projects include "Where to Start?", "Transitions" and "Growing Older with LDS."


  • State Fundraising Application Volunteer: Because we are a national organization and participate in online-fundraising, we are looking for a volunteer to help create a spreadsheet of state requirements and help with filing to ensure the LDSF meets all state requirements for fundraising. This volunteer needs to be organized and willing to wade through various state listings and resource books.

  • Grant Searchers: We know that we cannot move forward substantially without applying for and receiving grant support. We are looking for volunteers to help search the Internet for possible funding/grant opportunities that may align with our mission and vision. The LDSF will work on the actual application, we just need some volunteers willing to give a few hours a month to perform internet searches and identify possible sources of funding.

  • Board of Directors: The Board has the responsibility of guiding, supporting and directing the mission of the LDSF, ensuring that our organization is moving closer to our stated goals, setting direction for future projects and overseeing the finances of our non-profit. Board Members will serve two-year terms, be required to participate in quarterly teleconference meetings and one in-person meeting per year, and to serve on various subcommittees as assigned and appropriate. Board members do not have to have or be related to someone with LDS, but must have a passion for helping encourage education, foster research and provide support for those impacted by LDS. Currently our Board of Directors is in need of individuals with skill sets and passions in the following disciplines: Finance, Business, Fundraising/Grant Writing, Law, Medicine, Nonprofit and IT.

 

For more information about any of the opportunities or to volunteer your time and skills, please email us at volunteer@loeysdietz.org and let us know what you're interested in helping out with.

End Of Year Giving

It takes money to do what we do - to connect families impacted by LDS with one another, to work to spread awareness amongst the medical community about LDS and to seek out new ways to impact research and treatment plans for our families. We are thankful for every donation and fundraiser this year. And now we're asking you to consider supporting our mission and making a year-end donation. All contributions are tax deductable.

 

Will you consider supporting us this holiday season with a gift of $10, $25, $100 or more to help those impacted by LDS?

 

Donations can be made online at www.loeysdietz.org or by mailing a check made out to the LDSF to: P.O. Box 22468, Baltimore, MD 21203. In Canada, tax-deductable donations can be mailed to: 1155 ave University, Suite 1301, Montreal, Quebec, Canada H3B 3A7. We thank you in advance for Taking Heart and supporting the LDSF with your finances.

AND…

LDSF School Packet

Revised School Packet

Now Available!

At the 2012 Conference a group of participants met and discussed issues with LDS students in school-based settings. Based on those discussions, revisions took place to our School Packet resource. This document is meant to help parents communicate better with the their schools about LDS and any special accomodations their child might need.

Special thanks to Board member Sheila Waid for leading the session and revision efforts!

arrow view the PDF now

Calendar

2013 Events

Save The Date

 

Some of our wonderful fundraisers are already starting to plan for their events in 2013. We hope you'll save the date to join and support their efforts!

Cross the Finish Line For Caroline - 5k & Fun Run
Elm Grove, LA
March 2, 2013

Pins For Peyton & Gracie Too
- Bowling Event
Portage, IN
May 2013

Interested in finding out more about hosting your own fundraiser for the LDSF? Email us at volunteer@loeysdietz.org for more information.

Heart Pins & Cards

Heart Pins & Cards

ongoing

LDSF Heart Pins and Greeting Cards are now available for ordering. Support the LDSF with these fundraising items and help spread awareness too.

Consider a heart pin or pack of cards for your holiday giving! They make great and unique gifts for the upcoming season.

download the order form

Mission

line
  • Matters Of Heart: To provide an outlet for members of the LDSF community to connect and stay informed with accurate, relevant and timely information.
  • LDSF: The Loeys-Dietz Syndrome Foundation (LDSF) is a 501(c)(3) non-profit organization based in Baltimore, MD. The LDSF-Canada is a Canadian Registered organization based in Montreal, Canada. Both organizations are dedicated to: encouraging education about LDS and related connective tissue disorders, fostering research and providing support for patients, parents and families affected by LDS.

arrow check our website for additional information

   

Copyright © 2012