Thirty (30) million people in the US and 350 million people worldwide are affected by rare disease.  Rare disease affects more children and their families then AIDS and CANCER combined worldwide.  The RARE Project, developed by various rare disease leaders, is an organization with 3 simple goals; to help bring awareness to, resources for and unity to a much deserving community worldwide.

The RARE Project is proud to announce its new Board of Directors and Advisory Board that have been assembled to help drive the organization, ensure it meets its mission to help drastically impact the global rare disease community.  Included on the board are leaders who have a variety of expertise, all critical to the success of the RARE Project;

• Bruce Crair, Technology executive,
• John Crowley, CEO Amicus Therapeutics and parent advocate,
• Jesse Dylan, Founder, Wondros,
• Hugh Hempel, Technology executive and parent advocate,
• Caroline Loewy, COO Corcept Therapeutics and parent advocate
• Peter Pellizzon, Managing Director Hollecrest Capital and Philanthropist

The BOD will help ensure that RARE meets its mission and goals and will continue to help identify other strategic board participants.  “The RARE Project in its first few years has created tremendous momentum, partnerships and alliances and is now at a point where it needs to take the organization to the next level”, stated Nicole Boice, President RARE Project. “Assembling this team will allow us to continue to build on the organizations early success, and and ensure the growth, sustainability and longevity of RARE’s programs and initiatives.    RARE’s BOD is committed to the RARE disease community and is working together in an effort to make life better for those living with rare disease.

The first BOD meeting this past June focused on redefining the mission which states;  The RARE Project exists to raise rare disease awareness, unify and empower a vibrant global rare disease community, and fund innovations to support ‘in-their-lifetime’ rare disease research.   The entire team is committed to ensuring that RARE meets the goals that the mission sets forth.  The RARE team will be continuing to develop programs and campaigns that address it’s three core areas of focus, and are already looking ahead to a compelling 2012.  RARE Programs and initiatives include: The Children’s Rare Disease Network, The RARE Blog, The RARE Fund (launching in 2012), and The Global Genes Project.

In addition to the BOD, the RARE Project is continuing to build a compelling Advisory Board that consists of expertise within Science and Patient Advocacy.  Currently, Global Genes Project is proud to announce its early Scientific Advisory Board Members;

• Beth Ann Baber PhD, Nicholas Conor Institute for Pediatric Cancer Research
• Ian Eslick PhD,  MIT Media Lab
• Emil Kakkis PhD, Ultragenyx
• Jimmy Lin PhD, Johns Hopkins
• Christina Waters PhD, Phillip Morris
• John Wilbanks JD, Science Commons

In addition, Patient Advocacy Advisors will be a critical group adding their personal experiences and expertise to many of the RARE Project patient advocacy and community building initiatives globally.  A thank you to the RARE Project’s early Patient Advocacy Advisors;

• Audrey Gordon JD, Progeria Research Foundation
• Chris Hempel, Addi and Cassie Fund
• Elizabeth Joshi, Joubert Syndrome Foundation
• Sue Kahn, National Tay Sachs Foundation
• Brad Margus, AT Children’s Project
• Lisa Moreno-Dickinson, StopCAIDNow

Also in the news, RARE Project is proud to announce the addition of Dean Suhr,  MLD Foundation, will be joining the team as COO and Community Development Director.

For more information please join us at www.rareproject.org

It’s a Wrap – Rare Disease Day 2011.

DANA POINT, Calif. – The 4th Annual World Rare Disease Day took place February 28, 2011 with a fanfare of activities worldwide! Sponsoring organizations like NORD and Eurordis engaged in more activities and awareness efforts, garnering increased attention and engagement than previous years.

Once again, Global Genes Project™ helped support and create numerous opportunities to raise awareness for this important day through its grassroots campaigns and programs.

Wear That You Care™ Campaign took the world by storm!

Schools, Local Businesses, Disease Groups, Global Corporations were some of the hundreds of organizations participating in the Wear That You Care™ campaign supporting World Rare Disease Day 2011. “The goal of this campaign has always been to make it simple for people to participate and support rare disease families”, said Nicole Boice, co-founder Global Genes Project. “Rare Diseases are complex, the science behind the research is complex, the symptoms and medications are hardly pronounceable, making it difficult for the world to support this community in need”. It’s not easy to understand, and it is overwhelmingly scary for the general public. We are committed to changing that fact. The Wear That You Care campaign is something that is easy to participate in, helps provide an easy entry into supporting this community in need.

The Global Genes Project™ plans on continuing to make it easy to get engaged, show support, and build new champions for the millions of children and their families affected by rare disease. Global Genes Project™ will accomplish this through continued programs and educational efforts. “It is hard to generate support for something people don’t understand, we need to help them understand, in their terms, creating simple ways for people and organizations to support this community of millions”, Boice stated.

Global Genes Project – World Rare Disease Day report card

7,000 Bracelets for Hope™

• Hundreds of Bracelets donated and Hundreds of Bracelets distributed to rare disease families, in recognition of World Rare Disease Day.
• Bracelet Donations received from global designers from the Philippines, Austrailia, UK, Europe, United States.
• Bracelets distributed worldwide to countries like Mexico, Canada, Ireland, France, Australia, Hong Kong & Bangladesh.
• Efforts Continue: This very inspiring campaign will continue throughout 2011. The goal is to receive 7,000 bracelet donations and deliver them to 7,000 deserving families throughout the year. For more information on how you can help, join us at 7000 Bracelets

‘Blue Denim Awareness Ribbon’ Making and Distribution

• Over 20,000 blue denim awareness ribbons were made by volunteers and distributed around the globe in support of World Rare Disease Day.
• In addition to making this outreach possible through financial support, these organizations also recognized World Rare Disease Day by hosting events within their respective organizations, incorporating the blue denim theme; Pfizer, Shire, Illumina, Novartis, BioMarin.
• Kids Helping Kids Activities on campuses nationwide
• GlueDots™, making it possible for volunteers of all ages to help make ribbons
• Ribbon making activities will continue year round and are being offered to all rare disease advocates and groups for events, activities, etc.

NIH World Rare Disease Day Event

Global Genes Project recognition The Global Genes Project was very visible at the NIH for their first annual World Rare Disease Day Event. At the start of the day, Nicole Boice, co-founder Global Genes Project had the opportunity to present Dr. John Gallin (pictured top right), the head of the NIH Clinical Center with a denim ribbon and say a few important words about the Global Genes Project. Additionally, on the heels of a very compelling talk by Dr. Francis Collins (pictured bottom right), Director of the NIH, Nicole Boice and Audrey Gordon, executive director of Progeria Research Foundation, presented him with a 3ft denim ribbon and a ‘treatable’ tshirt. He reciprocated by having his first slide of his presentation being the Global Genes Project logo and Francis Collins in jeans! At the event, all attendees were given denim ribbons and many wore jeans in support of this campaign and the community as a whole!

Rare Disease Caucus – Extraordinary Measures Reception and Screening

John Crowley and the Rare Disease Legislative Advocates Group hosted a rare disease day (evening) event following the efforts at NIH. John Crowley, CEO Amicus and Pompe Disease parent advocate spoke to the group, which included Dick Gephardt (pictured right with Nicole Boice), House Majority Leader, who has been very supportive of the rare disease community and will continue to do so. Well attended, with support from PhRMA.

46NYC

Global Genes Project and 46NYC launched their ‘Treatable’ tshirt to benefit children and their families affected by rare disease. The campaign is on – all our children deserve treatments! – this is a powerful message and one that we can easily all participate in. We have lot’s of ideas about who needs to ‘be seen’ in a Treatable Tshirt! Send us pictures of you wearing yours and let’s post them on facebook!!! Stay tuned for more efforts related to the Treatable campaign.

Additional activities:

• 23andMe – providing new educational materials as resources for Global Genes Project partners and members, recognition of World Rare Disease Day through promotional efforts. www.23andme.com
• Healthline – Provided Awareness efforts and promotion the week leading up to World Rare Disease Day, providing information and support of the Global Genes Project efforts and insights into the rare disease community. www.healthline.com
• Keck Graduate Institute – Helped support World Rare Disease Day and distributed denim ribbons to all graduate students participating in an all day event. www.kgi.edu
• Lundbeck – Raise Your Hand event in Chicago at the NBC Studios. Kerry Hughes and Lori Butler represented both Battens Disease as well as The Global Genes Project where they distributed ribbons.

Thank you:

A Special Thanks to the current Global Genes Project Team:

• Chris Hempel – Addi and Cassie Fund
• Elizabeth Joshi – Joubert Syndrome Foundation
• Heather Earley – Russell-Silver Syndrome
• Sarah Goshman – Jacobs Cure
• Julia Jenkins – Kakkis Everylife Foundation, Rare Disease Legislative Advocates
• Lori Butler
• Kerry Hughes
• Eileen Braun – Angelman Syndrome Foundation
• Jennifer Thornton – AT Children’s Project
• Dean Suhr – MLD Foundation
• Amy Grover – RARE Project
• Wendy Liu
• The Team at Charleston Orwig
• SparkPR

Thank you to our supporters:

Don’t forget to join the discussion on Facebook, Twitter, and within the ‘Global Genes’ blog channel.

Rare Disease affects over 250 million people worldwide, and the largest percentage is children. There are over 7,000 rare diseases that have been identified all with very unique needs, but many with little to no support. In order to really help this community they need to be viewed as one, one community of millions, impacted by disease. Rare disease is not so rare, and the community is much more likely to garner the support, attention, and resources it needs if it is viewed as one.

This year, MarbleRoad is supporting at least two initiatives/events on Rare Disease Day:

1. The Global Genes Project—The Global Genes Project™ exists to unify, support, build awareness and raise much needed funds for those affected by rare disease. The Global Genes Project™ campaign will broadly promote the needs of the rare disease community as a whole, engaging the general public, garnering corporate support under the unifying symbol of hope ~ the blue denim ribbon.
2. Rare Disease Legislative Advocates Cocktail Reception and Movie Screening—Cocktail Reception & Private Screening of Extraordinary Measures with Special Guest John Crowley, the father who inspired the movie. . There will be a short education presentation about what is needed to bring lifesaving treatments to the millions of Americans affected by rare diseases. The event is hosted by Legislative Advocates, supported by Kakkis EveryLife Foundation, and sponsored by PhRMA.

Rare Spotlight – Kidney Disease

Much of MarbleRoad’s work thus far has been focused on rare kidney disease, such as renal cell carcinoma (kidney cancer), polycystic kidney disease, and Focal Segmental Glomerulosclerosis (FSGS). MarbleRoad has talked/worked with Regina Holliday, an artist/advocate who lost her husband to kidney cancer; e-Patient Dave DeBronkart, a survivor of Stage IV kidney cancer;  Julie Gidion-Smith, a skilled photographer, organ donor/recipient and FSGS survivor; and many others to promote education and awareness of rare disease and complex illness.

This weekend, MarbleRoad attended the National Kidney Foundation Serving the National Capital Area’s 22nd Annual Casino Night. The mission of the NKF Serving the National Capital Area (NKF/NCA) is to prevent kidney and urinary tract diseases, improve the health and well-being of individuals and families affected by these diseases, and increase the availability of all organs for transplantation. The Foundation provides funding for medical research, patient and community services, professional and public education, and organ donation programs.

Stay tuned for World Kidney Day 2011 on March 10.

Rare Disease Publications Update

There has been some amazing activity recently in publications related to patient stories and pharmaceutical research and development:

• ORDR/GRDR CDEs: The Office of Rare Diseases Research (ORDR), within the National Institutes of Health (NIH), is seeking your input on the list of common data elements (CDEs) for patient data entry to be used in any rare disease registry in conjunction with the Global Rare Diseases Patient Registry (GRDR) being developed through the ORDR. CDEs are necessary to ensure that data are defined in the same way and use the same standards and vocabularies. The use of CDEs facilitates the standardization of data entry and allows for harmonization of sharing and exchange of information across registries, various analyses and studies.Your comments and suggestions are welcome. Please visit the following link to view the instructions on how to respond and the feedback form: http://bit.ly/fhsLhd. They welcome comments and suggestions through March 17, 2011.
• MarbleRoad board member Catherine Calhoun has published her story in a chapter in Uncommon Challenges; Shared Journeys—Stories of Love, Hope, and Community by Rare Disease Caregivers. Proceeds from the book will support the Calhoun Bone Pain Project (her son Billy’s Bone Research Fund), along with several other charities of each author’s affiliation. Order your copy on Amazon.com today!
• Orphan Drugs in Development for Rare Diseases: Pharmaceutical Research and Manufacturers of America (PhRMA) has released a new report that details 460 new medicines in clinical trials or under FDA review for Rare Diseases. As you know, special challenges are faced by those who fight against rare diseases. For example, it can be difficult to find enough patients for clinical trials and enough medical experts to both conduct clinical trials and sit on review boards. Balancing access to a medicine against safety issues can be particularly difficult when a rare disease, left untreated, has devastating or fatal consequences. Biopharmaceutical research is entering an exciting new era with a growing understanding of the genome. Scientific advances have given researchers new tools to explore more rare diseases, which are often more complex than common diseases.

Today, more than 2,900 new medicines are in development in the United States. Many of these potential new medicines will fail in clinical trials, but some may represent tomorrow’s new treatments. Bringing each new medicine to patients will require, on average, 10 to 15 years of testing and review. PhRMA publishes several reports that track the biopharmaceutical research pipeline for many diseases, including the leading causes of death among Americans—heart disease, cancer, and stroke.

• The Road to Diagnosis: Stories from Patients with Rare Diseases — In advance of Rare Disease Day, Inspire released Stories from 30 members of online communities on Inspire, http://bit.ly/g6iPZq (click link to download pdf).

“Today we have new tools, new technologies to help doctors find information about rare diseases, and to help families find medical care. Nonetheless, it is still hard, as you will see in the poignant stories that are shared below. And most of all, it is critically important to get all the families together. Just as there are support groups for the more common diseases in your local hospital, the people affected by rare diseases need each other at least as much, but it’s not so easy to call a meeting. People with rare diseases are thinly scattered across the United States, and across the world. They are kept apart by well-meant privacy rules, by geography, by country boundaries, and by language. Instead of meeting in the hospital library, we meet in online support groups, like the ones hosted at Inspire. We listen to each other’s stories, gain insights from others’ experiences, share the names of helpful doctors, diagnostic tests, and treatments. We bring each other hope.” — Joyce Graff, founder and Executive Director of the VHL Family Alliance, http://vhl.org).

Opinion

By Jonathan Jacoby

The Jewish community has long been a leader in supporting medical research and education efforts, especially with regard to those diseases that disproportionately afflict people of Ashkenazi Jewish descent. Creating coalitions with other patient advocates in the rare disease community would give American Jews an opportunity to advance efforts to fight diseases that disproportionately affect Jews, as well as to participate in an important public policy debate involving millions in this country.

For example, Jewish agencies should get behind suggestions made by John Crowley, the biotech executive whose efforts to find a treatment for his children’s genetic disease were dramatized in the recent film “Extraordinary Measures.” Testifying on behalf of the Biotechnology Industry Organization last month before the Senate Committee on Health, Education, Labor and Pensions, Crowley pressed for improving the federal regulatory environment for pediatric rare diseases, including establishing a specialized review office at the Food and Drug Administration for genetic and biochemical diseases.

Most genetic diseases are rare, including those that afflict Jews in greater numbers. Patient advocates for rare diseases are confronted with the stark reality that, until recently, few biopharmaceutical companies have been interested in developing therapies for uncommon disorders. Indeed, the definition of a rare or orphan disease is based on the assumption that the prevailing financial model for drug development will only be effective when there is an affected population of 200,000 people or more.

Twenty-seven years ago, Congress approved the Orphan Drug Act to provide incentives to the biopharmaceutical industry to develop more products for rare diseases. Despite this act’s achievements (1,892 orphan designations and 326 treatments approved), 95% of rare disorders remain without a specific treatment approved by the FDA. Treatments for many of these diseases may never be developed, because complexities of the regulatory environment make it hard to attract investment for some rare or difficult diseases, even though the science may be available.

A specialized FDA review office for genetic and biochemical diseases — which has been heavily promoted through a growing campaign of patient advocacy groups called Cure the Process — could focus on specific diseases needing increased expertise and provide assistance on rare disease issues to other FDA review offices. A more specialized drug review by experts at the FDA who understand complex genetic disorders would stimulate and facilitate the development of more therapies to effectively treat rare diseases.

The creation of this new division would send a strong signal to the biopharmaceutical industry and to investors that the FDA is working to improve the regulatory path for thousands of rare disorders. This new division would help drive more investment in early stage biopharmaceutical companies focused on rare diseases.

Regulatory changes can have a huge impact. For instance, an FDA policy change in the early 1990s spurred a remarkable explosion of biomedical innovation leading to the approval of 29 new AIDS drugs. These drugs helped make HIV into the chronic but managed disease that it is for many patients today.

Establishing a new division at the FDA may seem like an esoteric objective to the layperson, but it is, in fact, a critical policy matter affecting the lives of millions of Americans, including a significant number of our fellow Jews.

Jonathan Jacoby is CEO of the R.A.R.E Project, which works with rare disease patient-advocates to promote rare disease advocacy, research and education.

Hoping great things come from this.

// CC

With a community of 100 million strong in the US and equal those numbers in the EU this community is deserving of the same energy, efforts, attention and support as some of the big individual diseases like AIDS and Breast Cancer.

We live in a time when we have seen huge success from organizations engaging and building a constituencies for their disease and from outside the community – and for the first time, the rare disease community is coming together to create a broad unifying campaign that will educate, inform and transform this community as we know it.  This will be the year for the rare disease community – our coming out, of sorts.  There is a lot planned that will benefit this community in Q1 – Crowley movie, ‘Extraordinary Measures’, 3-Part PBS Series on technology innovations and the impact on rare disease, and the 2nd Annual World Rare Disease Day -  however, Global Genes Project will become a catalyst for this community and provide a platform for ongoing outreach and engagement, garnering the much needed support that these kids deserve.

Check out www.globalgenesproject.org and join the effort on Facebook as well. There will be numerous opportunities and ideas on how individuals, rare disease organizations and corporations can get involved. It can be as easy as wearing denim genes and incorporating the adorable/identifiable jeans ribbon on your site/blog, etc.

Stay tuned for more updates!!!