International Federation Of Marfan Syndrome Organizations
Vol 4, Number 3 (December, 2009)
President's Report:
It is almost the end of the year 2009. Here in the United States, and from where I am writing in New York, it is cold. My house resembles a cave, with windows covered to keep out the cold and save heat. In other parts of the world it is warm and there are different issues. Whatever the weather, writing for the IFMSO newsletter, our role is to reflect how the peoples of the world are working to bring information and support research of the Marfan syndrome in order to better people's lives.
The difficulty of a common language continues to serve as a barrier to communication. Google Language Tools has an interesting translation web site - and it can serve as a rather imperfect means to translate. The founders of IFMSO always envisioned a multi-language newsletter, but, as editor, I have found it difficult to accomplish this - perhaps in the future.
The end of a year can be a time for reflection - a glance backward to see where we have come from and where we are going. The history of the International Federation of Marfan Syndrome Organizations, or IFMSO, serves as a perfect paradigm for the amazing partnership between lay organizations, and between the research community, as well. The last several decades of medical progress have been marked by the increasingly close collaboration among researchers in different organizations, which share a similar investigative focus and with the important technological advances which help to further knowledge.
I feel fortunate to have been born at a time in medical research when my family and I were able to participate in and benefit from these developments. I am sure that many of you reading this have the same experience. After my husband and some of my children were diagnosed with the Marfan syndrome, I became active in the National Marfan Foundation - this in 1984. As a librarian in a large public library, I had a perfect resource for organizational information. My job also enabled me to volunteer my "free" time to this cause so close to my heart.
Volunteer Organizations
The historic volunteer movement in the United States and worldwide enabled the people most affected by devastating medical disorders to play an active role on their own behalf in support of research to try to unravel the complexities that caused death and disability in their families. This growing partnership between patient and research, a concept whose importance had begun to be recognized about thirty years earlier, has proved to be one of the legs of the "proverbial" stool of medical research. We can be confident that this outreach and partnership between patients and researchers has enriched the prospect of research. Even now, despite the vulnerability caused by the worldwide problematic financial outlook, there is an increased emphasis on the benefit of translational research-the effort to move basic research knowledge from "the bench to the patient."Marfan Research Advances
A brief history of Marfan research can also demonstrate the role of technological advances - driven by interest in the research community. Of course we, of the Marfan world, always begin with the description of Dr. Antoine Marfan in 1896 of the characteristics which defined this syndrome. In the field of surgery, it was in the 1940s, the perfected heart-lung machine enabled surgeons to address the issue of dissection and aneurysm, thus enabling life saving surgery - and life span was increased radically. The years following the 1950s were noted for their amazing research findings and improvements. It was around this time that Dr. McKusick's book, Heritable Disorders of Connective Tissue, was published - in which Marfan syndrome was described and this whole body of disorders were put in focus. It was a long time from Dr. Marfan's first description that , prompted by Dr. McKusick's book - the Nosology of Heritable Disorders of Connective Tissue appeared in the literature in the 1990s - including the list of characteristics that defined the Marfan syndrome (MFS).One Family and Research History
When my husband was diagnosed in 1969, following the death of my oldest son, I read of the research underway on turkeys and propanolol at Johns Hopkins. As a result of that research, in 1977, my son participated in Reed Pyeritz's clinical trial, which addressed a radical new approach to MFS treatment with the use of beta blockers. In the 1990s, we witnessed the groundbreaking description of the MFS gene and its location on Chromosome 15 by the long time researchers in the field - including our own Hal Dietz and Lynn Sakai. This led to the accurate diagnosis of the Ciccariello family members. Also, at this time, came the new term," fibrillin" - the Marfan component - written up and named by Lynn Sakai and her laboratory. The Ramirez mouse model followed with a MFS mouse to observe the actions of the MFS gene. All the time, as this basic research was underway, cardiovascular surgery continued to improve through the development of the Bental Valve and now the composite graft, and the use of valve sparing which continues to be perfected and individualized. We have the prospect of even greater breakthroughs in treatment and future benefits from the impressive and far reaching clinical research undertaken by Hal Dietz, and the large promising clinical trial underway with the use of Losarton.Research Benefits Over the Years
Recounting my own personal experience and that of my family, demonstrates how we have been beneficiaries - both in diagnosis and treatment - of the unbelievable strides that have been made in the field of research and technology over the past 40 years, since my son's death in 1969. Advances in technology and research has been driven by the indomitable courage and steadfast commitment of brilliant researchers as well as - we must remember - the support of the National Marfan Foundation and Marfan patient volunteer organizations throughout the world.The National Marfan Foundation has played a major role in highlighting the needs in the United States, sharing with other organizations throughout the world. In Europe, the European Marfan Support Network (EMSN) continues to play a major role in the effort to create awareness of MFS and the partnership between the researcher and the patient in Europe. In addition, the smaller organizations in the many countries, work to deliver information and support directly to individuals and their families in their own languages. South American countries, Canada, and Australia have large organizations, as well as an effective organization in South African, with outreach to countries along the eastern coast of Africa. Two organizations in Japan are important contributors to IFMSO, and we continue to receive questions and contributions from other countries. The list on the IFMSO web site, www.marfanworld.org, illustrates the worldwide range of organizational activities and the language groups participating and features their web sites providing useful connections and information.
IFMSO Mission
This is where the IFMSO comes in - as an umbrella organization to provide a forum for all organizations throughout the world to review, share and contribute to the continuing effort to improve the lives of all who must deal with this complex and intrusive disorder.Formed in 1992 at the 2nd International Symposium on Research in the Marfan Syndrome, the IFMSO and its worldwide, Marfan organizations has continued to play a role in the support of MFS research and the work to promote communication and coordination of research throughout the world.
8th International Research Symposium
Now the 8th International Research Symposium on the Marfan Syndrome will be held in 2010 providing the essential opportunity to review and share recent research advances. Further down you will find Information regarding the dates and site of the upcoming 2010 symposium. This exciting meeting will feature recent research and future research directions.In this issue we are featuring the Canadian Marfan Association (CMA), and also Italy's newest group, Associazione Stefano - Bambini E Marfan, among other news. Do keep in touch and let us know your activities and future meetings. My best wishes to all for the coming year - 2010 - and for strength and courage to continue the work of "spreading the word" on the Marfan syndrome.
Priscilla Ciccariello, President, International Federation of the Marfan Syndrome (IFMSO).
Canada
The Canadian Marfan Association (CMA)4th Canadian Marfan Association Conference
The Canadian Marfan Association held our 14th CMA Conference on June 26th & 27th in Montreal, Quebec, Canada at McGill University. Each conference is held in a different major city across the country to allow people from different parts of the country to attend.
This year's conference was held over 2 days and included a Continuing Medical Education (CME) session for medical professionals and students on the first day and a Patient, Family & Friends Information Day on the second day. There were presentations by leading Marfan specialists including Dr. Irene Maumenee, Ophthalmologist from the University of Illinois Eye & Ear Infirmary, Dr. Nanette Alvarez, Adult Cardiologist at Peter Lougheed Hospital, Calgary, Alberta, and Dr. Enid Neptune, Adult Pulmonologist at Johns Hopkins School of Medicine. The conference was full with a great variety of topics being covered about Marfan and related connective tissue disorders. Renowned Marfan specialist Dr. Reed Pyeritz was also scheduled to present and just shortly before the conference we received unfortunate news that he would not be able to attend due to medical reasons.
Our CME session for medical professionals was attended by family doctors, specialists, nurses, and medical students. Our Information Day for patients, family members and friends was very well attended. Many individuals and families from Montreal came as well as families from out of town. This conference was only the second time we had a separate program for children and teenagers and we had a record number of kids take part. While the adults listened to the presentations in the main lecture room the children were entertained with fun and educational activities including a talk from an inspiring disabled swimmer who has Marfan syndrome and a fun session with a musical therapist.
As with past conferences the program was concluded with our 'Living with Marfan" talk. This year CMA members Anne & Denis Bonin gave a moving talk about their 12 year old daughter Alixe who has Marfan syndrome. Anne speaking in French and Denis speaking in English.For all those who attended it was clear that they truly appreciated all the information from the presenters and this unique opportunity to interact with them as well as with each other. Many thanks to Dr. Dieter Reinhardt who was the Conference Chair and his team of Dr. Dirk Hubmacher and students who helped out before and during the conference. We would also like to thank all the speakers who generously gave of their free time, our many volunteers, our directors who made the trip and our sponsors for their generosity. Without them this conference would not have been possible.
To find out more about the Canadian Marfan Association please visit our new website at www.marfan.ca
Eva Theofilopoulos
Executive Manager, CMAItaly
The Associazione Stefano bambini e marfanWe have received information from the Associazione Stefano-Bambini e Marfan in Italy. They have been very active and have a web page (see below). We have included their colorful flyer which is a listing some of their activities.
Their contact information is:
Emanuela Bernardo
Emilio Piffaretti (contacts)
Associazione Stefano - Bambini e Marfan
Via a Poggi, 9 - 23843 Dolzago
CF 9205147033
e-Mail: assostefano@alice.it
web: www.assostefano-barnbiniemarfan.it
Aortic Disease Summit Meeting and Current Research Activites in USA
Update and News
Contributed by Dr. Josephine Grima, Vice President of Research, National Marfan Foundation, USA:In 2009, the excitement in the scientific community continues as the pathogenesis of Marfan syndrome unfolds through the identification of numerous pathways, which can lead to the characteristics of Marfan syndrome and related disorders. Many of these new discoveries were presented at the Aortic Disease Summit in September 2009, where a gathering of prominent scientists and physicians discussed the state-of-the-art research and discussed multiple pathways which may be important in the development of Marfan syndrome. MAPK (mitogen-activated protein kinase), signaling pathways, specifically ERK (extracellular signal-regulated kinase-1) signaling pathways are now being investigated to determine what role they may play in modulating transforming growth factor - b (TGF-b). This research opens the door for even more possibilities for therapies with other drugs. In addition, research to identify biomarkers for diagnosis and dissection are moving ahead. In conjunction with the Aortic Disease Summit, the NMF organized a Therapeutics Strategy Meeting. The goal of this meeting was to help the NMF and its medical advisors prioritize the current state-of-the-art in Marfan research, given the possibility of new therapeutic options. This will enable us to create a strategic research plan for the next three to five years.
The clinical trial conducted by the National Heart, Lung, and Blood Institute (NHLBI) and Pediatric Heart Network (PHN) is continuing as anticipated with good reviews by the Data and Safety Monitoring Board. The trial has enrolled 463 patients as of September 30, 2009, over a period of 32 months. In order to make sure this trial would reach its target goal of enrolling 604 patients, 7 new enrollment sites were added in various locations throughout the United States, making a total 26 enrollment sites. Over the course of 2008 and 2009, the National Marfan Foundation has been working diligently to increase enrollment through our newsletter, e-mail network, annual patient conference and exhibiting at medical conferences.
The NMF has been instrumental in providing patient assistance through numerous vehicles. As of September 30, 2009, 65 families have received assistance from the NMF in the form of travel and hotel support for as many as four visits per family. In addition, the NMF has helped numerous families who do not have health insurance or need assistance for out-of-network echocardiograms. Additionally, financial assistance for genetic testing is being offered to families whose health insurance denies or only pays a portion of the cost, if these tests are needed to confirm diagnosis and access to the trial.
News of the 2010 8th International Symposium of Marfan Syndrome
The International Smyposium s on Marfan Syndrome have provided a common meeting ground for basic scientists, applied scientists, and clinicians to better understand the molecular etiology of the Marfan syndrome, the biochemical abnormalities produced by the underlying mutations in connective tissue genes, the clinical consequences of these mutations, the medical and surgical management and the effects of these interventions on natural history.
These meetings have been held with several year intervals to permit sufficient progress to warrant assessment of the impact of the advances. The first International meeting was held in Baltimore, Maryland in 1989, and the last International Symposium - the 7th - was held in September, 2005 in Ghent, Belgium.
The symposium brings together a panel of the world's experts for constructive discussions and vibrates debate on the current state of the art research and clinical therapies for Marfan syndrome covering all major disciplines including, cardiology, surgery, orthopedics, genetics, and ophthalmology. An exciting 2.5 day program is being planned. Leaders from the international volunteer health organizations will be invited to attend. The IFMSO was founded at the 1992 research symposium in San Francisco , CA, USA, and IFMSO member organizations have attended these important meetings since that time. .
A list of the locations and dates of these symposia is listed on the IFMSO web site - www.marfanworld.org
A Survey of Available Marfan Syndrome Web Sites
by the editor Priscilla CiccarielloRecently, I spent some time reviewing the different organizational web sites and was very impressed with the information provided as well as their creative designs. I particularly loved the unique logos representing the different organizations and countries. The web sites are listed on the home page of the IFMSO web site and they link to the home page of the various organizations. You can also find them by key word in Google.
It is worth a trip over the world of Marfan organizations to check out the web site links. You will encounter a different language, but all have the common focus on Marfan syndrome, "what it is", "how it is diagnosed", and how that particular country is addressing the needs of those affected by this disorder. I am always amazed by the availability of information regarding resources in the different countries and in all languages.
The miracle of technology has changed the face of information delivery in the past 20 years and we are all the beneficiaries of this. I hope you will go to the IFMSO web site - http://www.marfanworld.org and start this worldwide trip, which exists at the touch of your fingers. The key word is "marfanworld."
Information available at the IFMSO web site
Are you interested in supporting the IFMSO? Check out the pdf files featured on the top of IFMSO home page - http://www.marfanworld.org If you click on the files listed you can get forms for information on the IFMSO Mission and IFMSO membership; and also information on "Starting a Marfan Syndrome Organization" .
IFMSO DOWNLOADS on the Web Site - Home Page:
Statement of Purpose and Membership Form Fact Sheet
Starting a Marfan Syndrome OrganizationUpcoming Meetings and Activities of Interest
Please review some of the upcoming meetings and check out their web sites for additional information:
The American Society for Matrix Biology (ASMB)
Title: 2010 Biennial Meeting
Date: October 24 -27, 2010
Place: Charleston, South Carolina, USA
Web Site: www.asmb.net
Conference Questions (asmb@asmb.net8th European Conference on Rare Diseases 2010 Krakow
Title: From Policy to Effective Services for Patients
Date: May 13 -15, 2010
Place: Krakow, 33 Krupnicza Street, Poland
Web Site: www.rare-diseases.eu
Conference Questions: www.rare-diseases.euEuropean Marfan Support Network (EMSN)
Title: EMSN Annual Meeting
Date: September 2 - 5, 2010
Place: Ebeltoft, Denmark
Web Site: www.emsn.org
Conference Questions: Preston5@bluewin.chInternational Research Symposium on the Marfan Syndrome
Title: The 8th International Symposium of the Marfan Syndrome
Date: September 11 - 14, 2010
Place: Airlie Conference Center, Warrenton, VA
Conference Questions: jgrima@marfan.orgNew IFMSO Member Organizations and Contacts - and changes of contacts and addresses.
Contacts and addresses change often between IFMSO newsletter updates, so please forgive mistakes and/or incorrect information. Send any new or changed contacts to cilla71@aol.com and/or to ciccariello@gmail.com . If you want to be included as a "contact" send your request and approval to be included by e-mail. Thank you, EditorNew contact in India:
Chiranjib Nath
South Hazarapar
Texpur, Assam, India
Pin No-784001
E-mail: chiranji.nath@gmail.comNew contact in Philippines:
Rosalinda P. Guevarra, RN
Would like to start foundation.
E-mail: pong_guevarra@yahoo.comChange or correction in contact information:
Argentina: new web site address:
www.marfan.org.arSpain - correction of address:
Info@marfan.ed
www.marfan.esSlovakia
Slovak Asociacia Marfanovho syndromu
Post address: AMS, Lukovicova Betty, Vajnorska 54, 831 04 Bratislava, Slovakia
Tel: 00421 2 44257904, mobile phone : 00421 903 74 74 24
E-mail: marfan.sk@mail.t-com.sk
E-mail: lukovicova@stonline.sk
Website: http://marfan.szm.sk/
Please contact the Editor: Priscilla Ciccariello if you have any questions regarding the IFMSO E-Newsletter, or if you wish to contribute to the articles and news page. E-mail me at: cilla71@aol.com or Peter Ciccariello , webmaster.
IFMSO
C/O National Marfan Foundation
22 Manhassett Avenue, Port Washington, NY 11050
http://www.marfanworld.org
Contact
Information
President: Priscilla Ciccariello
Vice Presidents:
Wenche Snekkevik, (Norway),
Justin Nix, (Australia),
Yoko Shimozaki, (Japan)
Pernille Mai Strauss Warren, (Denmark)
Treasurer: Cheryl Williams, United
States
Webmaster: Peter Ciccariello