Save the date!
The 9th Alström Syndrome International Conference
May 2-6, 2019
Galveston, TX, USA
Venue: Hotel Galvez
Details to come!
Aspirin Social Innovation Award: Share & Vote Now
Aspirin Social Innovation Award 2016!
With this prestigious jury award the Bayer foundation honors every year the 5 most promising social impact innovators from health and food/nutrition related areas worldwide.
The Genetic Alliance is one of our 25 nominees in 2016 for The Platform for Engaging Everyone Responsibly (PEER) – congratulations to this success!
Now, the selection process is about to start and in the end 5 of our 25 nominees will be receiving an award with 20,000€ prize money each. Further information will follow shortly.
This is a reproduction of Jan’s Story, found on the Bangor Daily News.
SOMESVILLE, ME – Jan Davis Marshall of Somesville, ME died on September 6, 2016 , leaving her wide network of family, friends and the genetics research community at Jackson Laboratory stunned by her passing. Her dynamic life began in western New York on February 17, 1948 and was packed full of extraordinary energy and accomplishments. She was the daughter of the late Thomas J. and Betty (Walker) Davis of Williamsville, New York and Somesville, Maine.
She is survived by her husband and soul-mate Robert P. Marshall, beloved daughter Erin (Richard) Cyr, her grand-daughters Madison and Lily of Carver, MA., and sister Susan (Paul) Belanger of Madison OH. Many others, including a legion of Deck House Players considered her to be friend, sister or mother. All will remember her passion for life, her love of great food and wine, and the joy she found in sailing the waters of Mt. Desert Island with her precious grandchildren.
Jan graduated from Williamsville High School and from Hartwick College in Oneonta, New York before moving to Mt. Desert Island with Rob in 1970 to start her career as a Research Assistant at the Jackson Laboratory and was a Senior Professional Assistant and Genetics Coordinator for Alström Syndrome Studies at the time of her death.
During her 46-year career at Jackson Laboratory she contributed to many genetics research projects as a valued team member. It was her research on Alström Syndrome, a rare and very serious inherited disease, that captured her passion and became her most important legacy, making a huge difference in the lives of Alström patients and families around the world.
Jan located and worked with families of children afflicted with Alström, leading to continued research which allowed the discovery of the disease gene. She developed a deep and personal commitment to help Alström children and their families. In 1998, she and Rob founded Alström Syndrome International (ASI), a charitable foundation dedicated to treating and curing the disease. She authored numerous scientific articles and The Alström Syndrome Handbook which have greatly increased the worldwide understanding of this disease. A colleague said it well: “Jan’s spirit is in her life’s work and will forever stay with us”. She was Chair of the ASI Scientific Advisory Board.
Her legacy survives in the hundreds of families in 58 countries that now have been helped by ASI and the continuing research on the disease. She has touched many lives and remains an inspiration to all who knew her. Her lifetime awards include the Galileo Galilei Surgical Theater Medal for Scientific Achievement by the University of Padua, Italy (2003) and the Williamsville Education Foundation Wall of Fame Award for Distinguished Service to Science (2008).
A tribute to her life will be held in the outdoor amphitheater at Camp Beech Cliff, Beech Hill Rd, Mt. Desert on Friday, September 16, 2016 at 4 pm (moving indoors if weather demands). Casual and comfortable clothing is appropriate.
Tax deductible memorial contributions in Jan’s honor may be sent to Alström Syndrome International, 14 Whitney Farm Road, Mt. Desert ME 04660 in support of this family-focused non-profit organization. (www.alstrom.org)
Condolences may be expressed at www.jordanfernald.com.
Published in Bangor Daily News
Jordan-Fernald Funeral Homes
Earlier I had indicated that plans to celebrate Jan’s life would be postponed until after both the A-Team Retreat and the GBMC Clinic. However, in part because so many A-Teamers and a number of Alstrom parents will be here next weekend and because many of our Deck House friends are nearby, and certainly because our immediate families are here and can stay around for awhile, and because so many of Jan’s friends and colleagues at JAX are feeling sad, we have made the decision to have a service for Jan on Friday, September 16 at 4:00 PM at Camp Beech Cliff in/at their gorgeous outdoor amphitheater. Our feeling as a family is that nothing would please Jan more than to have her wonderful A-Teamers in the front row as it were. Same for me!! The setting can be appreciated at www.campbeechcliff.com.
Also, we know how very many of you from all around the globe can not be here in person. This morning at a meeting with the officiate for the service, our dear Heather Cox suggested that if you wished to participate, you could do so by writing your thoughts down and we could publish them for everyone to have with them now and in the future. Phyllis will, of course, see that we have enough Braille copies!! Heather’s direct e-mail is email@example.com. It’s a good idea to copy Aaron as well at Aaron.firstname.lastname@example.org. And Phyllis at email@example.com.
Music and Nature have been a huge part of our lives. We will have both in abundance on Friday. Casual and comfortable dress encouraged. At minimum, PLEASE, at least as many smiles and laughter as tears! There will be some refreshments following the ceremony, and our evening schedule for the Retreat will resume.
My love to all!
Thanks for the avalanche of mail and messages. I’m not so good at talking/speaking yet, so I’m writing. This morning my son-in law, Richie, and/or I lost it over the coffee maker, which Jan always sets up, and avocados, which Jan always makes into her special guac. Lily (now 7), our younger granddaughter, is under Jan’s morning blanket-throw in Jan’s brown work chair next to Jan’s computer pretending Jan’s there to cuddle. I’m doing OK on the really big stuff; this little stuff is just killing me and our kids, which all just points back at the number one reality of losing someone so loved. Susie, Jan’s sister, and Paul arrive later today. Sure they’ll be the same way. My friends here on our Island in Maine have been just wonderful. They kind of just dart in and dart out with ready eat food or stop by and do a little weeding and deadheading, or load the dishwasher or, or, or. I suspect someone around is scheduling things. We have always been so very lucky in and with our friends. ALL of you in so very many special ways. Even the doctor’s, mine and Jan’s, and their staffs are checking up on me. Too bad I’m into Scotch, not drugs, because I could surely get just about anything that’s legal. I’m reminded to “let the tears flow.” Certainly no problem there. I’ve found a few breaks when I rush in to “tend to business.” Plans for the A-Team Retreat and for the GBMC Clinic, next week and the week after, are on-track, and though I know it’s completely unnecessary, thanks to those who were so excited but still are coming to either event for holding the course. Way to go! It will be hard at times, but we honor Jan, and, indeed ourselves, in fulfilling these two long held dreams of hers.
I’m copying a FB contribution from a stranger (to me), Elena, to Marina, an Alström Mom in Italy, because it holds several truths. “When a knowledgeable person dies, a whole library disappears”. In this case, it is overwhelmingly true. Not just JDM’s knowledge but where it came from and how it could work together to help her “kiddos.” But, Elena continues, she will have left seeds and sprouts behind. Gayle Collin, who “discovered” ALMS1, spent time with me yesterday morning. She’s a great hugger! Better yet, Jan planted her years ago and she has grown into a solid oak. We talked about Jan’s “legacy,” things at JAX, things here in the house, Jan’s peculiar cataloguing scheme, and Jan’s password strategy since Jackson Lab demands very frequent changes, etc. etc. Had my first decent laugh with her before catapulting to the other extreme. We’ve always counted on Gayle’s being onboard if something this bad ever actually happened. For her, Jan was totally part mom, part sister, part friend and, for Jan, way beyond her closest colleague and partner in Alström crime. Guess what? Part daughter, part sister, part friend. So, the African proverb Elena quotes is so true that it terrifies me, but her subsequent observations about Jan leaving behind “seeds and sprout” holds an even more awesome truth that lifts me up. Many of you reading this message MUST take heed. PLEASE take root! If you’re already a sprout, keep growing! This is more than about research – it also means advocacy of all things good; it means fundraising for those less fortunate; it means jumping in and reaching out to new families; it means filling out those surveys that some of you are still procrastinating about; it means planning and executing those regional small Alström meetings that you talk about but need to hold; it means that though it literally might take all of you to equal what Jan did singlehandedly all these many years, that we can finish the only job she ever wanted for herself! Treating and curing Alström Syndrome!
To the extent that I can bring ALL OF YOU any of the solace and love you have been giving to me and our family, I give you my pledge that I will keep the torch burning bright, even if I stumble a bit and it dips a little, when I know your hands will reach out and prop me up.
Gosh, you just have no idea how much she loved you all, “warts and all” as they say!
The evening of September 6th, Jan Marshall, the Chair, Scientific Advisory Board and Board Member of Alström Syndrome International passed away quickly to unforeseen health issues.
Jan was truly the heart of ASI, and her loss will be very challenging to overcome. She was our mentor, “Mama”, the point of solace, advice, and support for thousands of people whose lives have been affected by Alström Syndrome.
While we at ASI stand before this challenge and look to the future, we can hear the voice of our champion with her one expression when our organization would face challenge…
Call for photos!
If you have photos from the recent conference in Plymouth, MA, now you can share them! Follow the link and instructions below to send your photos to ASI for inclusion in the photo library!
Send Photos to ASI for Uploading
To send your photos to ASI for inclusion in the library, simply go to the link below for an easy to use web for that will allow you to send your photos to us. We will upload the images to Photobucket for you.
Washington, DC (February 25, 2016) – Alström Syndrome International, a member of the Community Engaged Network for All (CENA), is represented at the Precision Medicine Initiative Summit being hosted by President Obama today! Amidst several other ‘health data flow’ announcements, Sharon Terry, CENA Principal Investigator, will announce that the Patient Powered Research Networks (PPRN) of the National Patient-Centered Clinical Research Network (PCORnet) will prioritize patient access to electronic health record data in order to let it flow into research studies. CENA, of which Alström Syndrome International is a founding member, is a Patient-Powered Research Network, and, as such, is changing the culture of medical research by involving participants, their families, and all stakeholders in all phases of research. Alström Syndrome International is thrilled to be involved in helping people more readily obtain their health information in order to advance research.
CENA is novel in that it is a collaborative effort of 10 disease advocacy organizations, the University of California, San Francisco, the University of California, Davis and Private Access. CENA utilizes the Platform for Engaging Everyone Responsibly (PEER) built by Private Access and Genetic Alliance to enable individuals to share their health information according to their personal data access and privacy preferences. In the case of Alström Syndrome International, this resulted in the creation of ARC (Alström Research Connect and family exchange), an amazing opportunity for patients and families to both contribute to and participate in Alström-specific disease research. https://www.alstrom.org/alstrom-registry/
To create a more robust network, all the PPRNs have pledged to help participants access their health data and to make it available for research. This greatly enhances the quality, sensitivity, and power of the available research data. “I am delighted to see these data flow! The goal for CENA is to empower people to ask for their health data from healthcare providers and receive it in the easiest and most useful way,” said Sharon Terry, who also serves as CEO of PXE International, a fellow rare-disease advocacy group. Terry is also a member of the Precision Medicine Initiative Cohort Program Advisory Panel.
“Patient health data, combined with information from self-reported data and other sources, will be critical in understanding health outcomes for millions of Americans,” Terry added.
About Alström Syndrome International
Alström Syndrome International (ASI) was founded in 1995 to promote research and support of individuals affected by Alström Syndrome. ASI works on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians and supporting individuals. ASI is the prime force in conducting basic and clinical research and providing financial support for applied translational research, product development, and treatment development for Alström Syndrome. It also serves as the steward for the intellectual property to equitably advance products and services around the world for the individuals and families living with Alström Syndrome. Visit: http://www.alstrom.org
CENA is part of PCORnet, the National Patient-Centered Clinical Research Network, an innovative initiative of the Patient-Centered Outcomes Research Institute (PCORI). Genetic Alliance leads this project, which is a collaborative of ten disease advocacy organizations, the University of California San Francisco, the University of California Davis, and Private Access. For more information about CENA please visit:http://www.geneticalliance.org/programs/biotrust/cena
About Platform for Engaging Everyone Responsibly
Platform for Engaging Everyone Responsibly (PEER) is the world’s first participant-controlled, cross-condition health registry. From the ground up, PEER is based on the principle that genuinely engaging individuals in medical research demands giving individuals (or their legally authorized representatives) the power to decide for themselves how, and with whom, they wish to share their health information. For more information:http://peerplatform.org/