It was a busy and productive 2016 and we look forward to an exciting 2017. We continue to research platforms to collect and curate patient data, as well as physician data, in anticipation of developing a RASopathies Natural History grant application for 2018. We have also been working hard on educating legislators and pharmaceutical companies about the RASopathies, among other initiatives. Your donations, letters, and phone calls to Congress, the time you take to participate in research studies and initiatives, to participate in the Million Dollar Bike Ride and more, help us to fulfill our mission to promote collaboration and advance research for the RASopathies.
We thank you so much for your support !
We started planning for the 5th International RASopathies Symposium! Please mark your calendars and join us in Orlando, Florida July 28-31, 2017. The focus is When Development and Cancer Intersect.
We spent a week in Washington D.C. for Rare Disease Week. We presented a poster at the National Institutes of Health to raise awareness of the link between cancer and birth defects in individuals with mutations in the RAS signaling pathway. We also educated members of Congress about the RASopathies and specific legislation that will have a great impact on our community like the 21st Century Cures and the OPEN ACT. To learn more about legislation that can help advance research of the RASopathies, please visit Rare Disease Legislative Advocates.
Lisa Schill and Beth Stronach
Thank you to the Parker family for raising awareness and funds for the RASopathies Network on Rare Disease Day!
We spoke at the Prevent Cancer Foundation Dialogue for Action Conference. It’s an annual conference that emphasizes evidence based cancer screening according to guidelines and cancer prevention.
This was a BIG month!
First, what a great turn out for the Million Dollar Bike Ride to raise money for a RASopathies research grant focused on anything that will lead to a treatment!! We had about 25 riders and a water stop full of volunteers. Every year we’re told our water stop is the best!! (Our water station is more like a RASopathies family reunion!) Thank you to all who helped and participated. Save the date May 20, 2017 for the next bike ride!! We would love it if you could join the ride or the water stop. Please contact us at email@example.com if you are interested in participating and watch for updates!
Also, we attended the 6th International Meeting on Rare Disorders of the RAS-MAPK Pathway in Barcelona, organized by Bronwyn Kerr, Marco Tartaglia, and Martin Zenker, which included a Noonan Syndrome Guidelines consensus meeting, and sessions on Cancer risk in RASopathies and Mosaic RASopathies; Molecular mechanisms and RASopathy models; Genotype/phenotype correlations, new mutations and short reports; Clinical aspects and patient management; RASopathy family support group updates; and the NSEuroNet kick-off meeting. For more information, take a look at the program here.
We worked with YourekaScience to produce a short video describing the RASopathies! Please feel free to share with all your friends and family.
We benefited from a DIA (Drug Information Association) Fellowship, which provided a unique opportunity to network with peer leaders in patient advocacy in a prominent global forum to help the drug development community recognize the value of informed patient advocates.
Thank you to the Bailey family for hosting the "RIDE or WALK for #RASopathies" to benefit RASopathies Network USA in Peru, Vermont. We appreciate all of your support! Save the date: The next RAS Adventure Ride will be held on Sunday, June 18, 2017. You can register here.
Our hearts were saddened by the news that we lost an invaluable board member, Monica Grund, to cancer. Monica (below right with her son) did such a great job helping us over the last few years, it’s hard not to have her by our sides. In her honor, Monica’s family and friends created a $1,500 grant to provide stipends for families to attend the Lunch and Learn session at the 2017 symposium at no cost to families, on a first come, first served basis. We think of you often and thank the Grund family for their generosity.
We submitted our second National Institutes of Health R13 conference grant application, with Lisa Schoyer as Principal Investigator, to help fund the 5th International RASopathies Symposium. It received an outstanding score from the review committee (in October) and we are hopeful that it will be fully funded!
We helped to develop the agenda for the Global Genes Patient Advocacy Summit this year. Lisa Schoyer was invited to speak about applying for a National Institutes of Health R13 grant and Lisa Schill was invited to speak about designing and implementing a scientific symposium.
Lisa Schill (L) and Lisa Schoyer (R)
(L to R) Sandra Taylor-Exec. Dir. CSFN, Lisa Schoyer- RASNet, Brenda Conger- Fmr. Exec.Dir. CFC Int'l, Cyndy Hartman- Treas. NSF
We also attended a Scientific Workshop hosted by the EveryLife Foundation, as part of a working group to address regulatory barriers in drug development.
In collaboration with the Genetic Alliance and investigators at Children’s Hospital of Philadelphia, we helped to develop specific questions for a pediatric sleep study. Stay tuned! We will be contacting you to participate in the questionaire.
We were invited to attend the 2016 Partnering for Cures meeting presented by Faster Cures in NYC to learn more about creating a culture of patient engagement, trends and technologies transforming health and research, new frontiers in preventive medicine, and progress in patient registries and the rare disease landscape. We interacted with like-minded individuals at roundtable discussions and rubbed shoulders with innovators and advocates expanding the profile of our RASopathies Net organization and RASopathy conditions.
After some delay, the 21st Century Cures Act was finally signed into law! RASopathies were front and center at the enrollment ceremony and the signing!
Thank you to our young advocate, Max Schill, for speaking on behalf of all people affected by a RASopathy, including himself. You can hear his speech here.
VPOTUS Joe Biden and Max Schill
Finally, we are thrilled to announce the recipient of the 3rd Annual Million Dollar Bike Ride research grant! The $44,000 grant has been awarded to Philip Stork, MD, Senior Scientist at the Vollum Institute of Oregon Health & Science University to study Raf dimers as targets for therapeutic intervention in the RASopathies.
Thank you to all who participated in the ride and donated to help advance RASopathies research!! We will be participating again next year on May 20th, 2017. The 2017 grant will be awarded to any research that leads to a treatment or cure for the RASopathies. 100% of donations will go towards the grant and will be matched 1:1 up to $50,000 by the Penn Center for Orphan Disease Research!!
Planning for 2017 is already underway. If you would like to join us and contribute your time and talents to our organization, we would love your help! Please email us at firstname.lastname@example.org.
RASopathies Network USA's Board of Directors wish you all a Happy New Year filled with health and happiness!!
RASopathies Network USA
BOARD OF DIRECTORS:
Lisa Schoyer, President
Lisa Schill, Vice President
Lee K. Johnson, Secretary
Richard Amromin, Treasurer
Beth Stronach, At-Large