Children’s Rare Disease Network Partners With Medpedia.com To Create Rarespace
June 29, 2010 by admin
Filed under Advocacy/Policy, Bench to Bedside, Doctor Perspectives, News
Online Knowledge Share Platform to Provide Valuable Information to Rare Disease Community
Dana Point, Calif. (June 29, 2010) – Every parent needs a supportive, collaborative network full of information where medical professionals, researchers, patients, parents, advocates and the general public share knowledge about the rare childhood diseases that affect 22.5 million American families. RareSpace is an online knowledge sharing platform designed in partnership with R.A.R.E. Project, the Children’s Rare Disease Network and Medpedia.com to help grow resources for children with special needs. This resource is available online now at RareSpace.
“RareSpace is a unique and valuable tool for families caring for children with rare diseases,” says Jonathan Jacoby, CEO of the R.A.R.E Project. “With the help of Medpedia.com, RareSpace will become a safe place to share important information aggregated from the rare disease community at large, which is vital to finding hope for children.”
It’s the collaborative structure of RareSpace that makes it truly unique. The site will educate and connect users about critical resources, innovations in research, standards of care as well as best practices in treating rare diseases and disorders. Creating a community filled with medical professionals, policy advocates, researchers and parents catalyzes a free exchange of information, increasing the general knowledge quotient of every stakeholder. The goal is to supply real resources and connections for those who are in the care of children living with rare diseases and disorders, and help each family not feel isolated in their struggles to care, treat and advocate for these sick children.
“It’s so critical for families and caregivers to have a knowledge bank like RareSpace to draw from,” says Devon Watts, community manager at Medpedia.com. “We are excited that Medpedia.com is a part of connecting a community and granting an open space for dialogue and education. It’s the widespread sharing of information that will benefit patients most.”
Different from other community sites, one key advantage of RareSpace is that people can share documents and resources very easily. Discussions of genetics and genetic diseases in general happen on RareSpace, with the understanding that research on all these diseases could lead to cures for other genetic disorders as well. Articles on translational research and discussions of possible cures for diseases can be found on RareSpace. A major benefit is that medical professionals will answer questions posed by site users about treatment, best practices and how to best help these children and their families. Users will create profiles and have the opportunity to upload documents and links and connect with other users all within the RareSpace portal. In addition to connecting within RareSpace, users will have the ability to create disease specific groups that can all be linked with RareSpace. This robust platform provides numerous ways to share critical information and knowledge across the rare disease community, which can be done in a safe environment that includes representation from all of the key stakeholders involved in rare disease.
R.A.R.E. Project’s, Jonathan Jacoby to present at FDA Hearing on Rare Disease
June 29, 2010 by admin
Filed under Advocacy/Policy, Bench to Bedside, News
On Tuesday, June 29, 2010, and Wednesday, June 30, 2010, FDA’s Office of Orphan Products Development will host a two-day public hearing and Webcast on the Development of Articles for Rare Diseases.
This public hearing is intended to gain from health care providers, academia, industry, patients, and other interested persons their perspectives on various aspects of the development of medical products for the diagnosis, treatment, or management of rare diseases. The input from this public hearing will help inform the work of FDA’s committee for rare diseases
Jonathan Jacoby, CEO R.A.R.E Project will present case studies on therapeutic candidate generation, focusing on;
- Challenges of patient-driven R&D
- Challenges and successes with biomarker identification
- Experience with Orphan Drug Designations
- Individual investigator INDs and IND exemptions
- NIH clinical trials
- Barriers to recruitment and participation in CTs
Following the presentation, Jacoby will provide recommendations that include the importance of very small CTs as a pathway to regulatory approval. Jacoby will present this testimony from 11:40 – 12:00, June 29, 2010.
The meeting will be webcasted and any interested persons are encouraged to join:
- Dates: June 29-30, 2010
- Time: 9:00 AM to 5:00 PM ET
- Webcast addresses (will be active at the time of webcast):
June 29 – collaboration.fda.gov
June 30 – collaboration.fda.gov
MarbleRoad Comes to the CRDN Blog
May 4, 2010 by Howard Liebers
Filed under Advocacy/Policy
A problem internally with any organization tends to be around communication. We all end up becoming specialists in our “silos” and never really tune in to what our colleagues are working on, even if peripherally their work impacts our own. The rare disease community often feels the same, with corporations and foundations taking on very intimate and personal missions to support people we (and they) love and care about; always asking the same people and groups for help, but rarely taking time to step back and look in at the work we’re doing collectively to see how we can more effectively help each other. The Children’s Rare Disease Network (CRDN) is taking great strides in connecting individuals, families, and organizations of every kind in an effort to better connect the great work that we’re all doing. As a part of that effort, MarbleRoad and CRDN have decided to collaborate and syndicate the MarbleRoad blog within the CRDN Policy/Advocacy blog.
So, allow me to take a few moments to explain who/what MarbleRoad is… I started the MarbleRoad blog in April 2009 to discuss rare disease [and other public health] issues, community health center issues, and other conversations related to volunteerism and national service. In just over a year, the blog has welcomed more than 8,000 visits. As a result, I have been working on expanding MarbleRoad beyond simply providing commentary and dialogue, but also to provide direct financial support for individuals and families impacted by a rare disease diagnosis and community health center patients who seek specialty care services not provided by their primary care provider. Fulfilling this mission is still a long way away, however, in the meantime, I will engage with you weekly on the MarbleRoad and CRDN blogs regarding rare disease issues.
Let us take a look at what is happening right now. Last week Emil Kakkis of Kakkis EveryLife Foundation shared an advocacy update regarding:
the push to support $10 million appropriations for a specific rare disease review division at the Food and Drug Administration (FDA)… Moreover, thanks to your support, Senator Kohl (D-WI) (the Chair of the Appropriations Subcommittee) has agreed to Senator Brownback’s (R-KS) request to hold a hearing on rare disease regulatory issues in June. Senator Brownback is very interested in doing something important for rare disease patients and we should help support that goal in his last year in the Senate.
Along those lines, Federal health reform legislation sets forth that there will be a new non-profit established to be known as the “Patient-Centered Outcomes Research Institute”. Within that Institute there will be an “(iii) EXPERT ADVISORY PANEL FOR RARE DISEASE- In the case of a research study for rare disease, the Institute shall appoint an expert advisory panel for purposes of assisting in the design of the research study and determining the relative value and feasibility of conducting the research study.” Funding for the Institute will be through a new Trust Fund, with money transferred over from the Federal Hospital Insurance Trust Fund and the Federal Supplementary Medical Insurance Trust Fund at the following levels:
(A) For fiscal year 2010, $10,000,000.
(B) For fiscal year 2011, $50,000,000.
(C) For fiscal year 2012, $150,000,000.
(D) For fiscal year 2013, net revenues received from fees on health insurance plus $150,000,000
(E) For fiscal year 2014-2019, net revenues from fees plus $150,000,000.
I would love to hear about the individual legislative efforts you are working on, as there may be potential for us to collaborate somewhere down the line on a comprehensive package, and at the very least for now to collect information that may be shared at hearings in the future. In accordance with Section 4(n) of the Orphan Drug Amendments of 1985, the Department of Health and Human Services reported to Congress in 1989 the final report of the National Commission on Orphan Diseases. In that time there were several hearings held, and the report ultimately recommended that the Office of Rare Disease Research be formed (which was mentioned there as a “Central Office of Orphan and Rare Diseases”). Hearings do work; there are opportunities here and now for the rare disease community to come together. I need to know what you all are working on. As an example, I shared on the MarbleRoad blog in February via a guest post from Heather Long who lost her son to an undiagnosed disorder:
So, I came up with the idea for an Undiagnosed Disease Registry. I thought that if we could have other disease registries, such as SEER registries for Cancer, why not one devoted to undiagnosed cases? I first proposed the idea to my State Representative. H.B. 2294: Texas Undiagnosed Reporting Act was proposed by State Representative Dan Gattis during the recent Texas Legislative Session. However, the bill did not get passed. Not putting all my eggs in one basket, I also contacted my U.S. Representative John Carter. In May of 2009, Representative Carter proposed H.R. 2538: The Charles August “CAL” Long Undiagnosed Diseases Registry Act of 2009. If passed, this legislation would require the CDC to create a National Undiagnosed Diseases Registry. Right now H.R. 2538, the CAL Registry, is sitting with the House Committee on Energy and Commerce. The bill has five co-sponsors and Rep. Carter’s office is actively recruiting others.
We need to find ways to better collaborate; bring our efforts, thoughts, dreams and ambitions together. We need to keep an eye on insurance coverage, as Medicaid expands and new exchanges are formed, as pre-existing conditions are no longer a concern, etc. I do not have all the answers, and my blog posts will not be perfect in the content they share with you, but I do hope to achieve some small goals: generating useful and valuable dialogue, bringing awareness to your experiences, and ultimately leading to improved quality of life for you and me and anyone who has ever felt pain (physical or emotional).
Howard Liebers
Email: howard @ marbleroad.org
Follow me on Twitter
Glue Dots International Supports the Global Genes Project
April 1, 2010 by nboice
Filed under Featured, Global Community, Global Genes Project, News
An Initiative to Raise Awareness for Children Living With Rare Diseases
New Berlin, WI (PRWEB) April 1, 2010 — Glue Dots International (http://www.gluedots.com), a leader in the adhesive industry, is proud to announce the company’s support of the Global Genes project- an initiative designed to raise awareness about the prevalence of rare diseases that affect millions of children worldwide. Approximately 75% of those affected by rare diseases are children, making the rare disease category one of the most deadly and debilitating for children worldwide. Glue Dots® is honored to have their products bond together the ribbons of awareness, in the hope that these ribbons will bond and unify support from around the world.
Earlier this year the Children’s Rare Disease Network (http://www.crdnetwork.org) launched the Global Genes Project , an initiative designed to raise awareness about the prevalence of rare diseases. Advocates organizing the campaign selected a blue jeans denim ribbon as the international symbol of hope for children suffering from life threatening and chronically debilitating diseases.
“We are excited to join forces with Glue Dots on our mission to find treatments and cures for rare diseases. Together we will spread the word by bonding with people around our cause,” said Nicole Boice, founder of Global Genes Project.
“We’re very lucky to have a product that can help build awareness for such a worthy cause as Global Genes. When they contacted us with their heartfelt story, we were honored to be the adhesive bonding the ribbons that represent millions of children afflicted by rare diseases,” said John Downs, President of Glue Dots International. “We had no idea how many children were being affected and we want to help spread the message.”
Glue Dots® helped raise funds and awareness by organizing a company wide awareness week which led up to World Rare Disease Day on Feb. 28th, 2010. In the upcoming months Glue Dots is also planning different activities with Global Genes to promote awareness all year round.
“World Rare Disease Day is only the beginning of our partnership with Glue Dots International,” said Nicole Boice, founder of the Global Genes Project. “There are limitless ways that we can collaborate and we are looking forward to working together with Glue Dots and their customers through innovative programs. Together we will spread the word by connecting and bonding with people around our cause.”
To learn more about Glue Dots® partnership with Global Genes, please visit www.globalgenesproject.org or facebook/gluedotsfans.
Glue Dots International, founded in 1995, revolutionized the adhesive industry with its easy-to-use pressure sensitive products. The company holds several patents and continues to lead the industry in the development of new, efficient adhesive products for consumer, industrial and specialty markets. Glue Dots International, headquartered in New Berlin, Wisconsin, has operations in the United States, United Kingdom and Asia.
“Top Ideas” Final Round, Vote for Rare Disease!
March 2, 2010 by Catherine Calhoun
Filed under Advocacy/Policy, Featured, News
Rare Disease made the final round for the 2010 Change.org Top Ideas Contest. We beat out hundreds of ideas to make the finals and now must reach the top 10 out of 60 final ideas. Voting ends Friday, March 12 at 5 p.m. EST.
This is truly an amazing chance to make rare disease a health priority in the USA (and world). There are more than 25 million people in the USA alone with rare disease with millions of family members touched by rare disease as well.
Please vote at Change.org – http://www.change.org/ideas/view/25_million_it_is_time_to_care_about_rare_disease
You can vote every day through March 12 – ask family and friends to do the same! Every day!
Blog for Rare, a success and follow-up!
February 27, 2010 by Catherine Calhoun
Filed under Featured, Global Community
Feedback so far from Blog for Rare (I can’t resist a kind word):
Thanks for the wonderful opportunity – Love this! (Tanya Lachance)
Looks great, thanks Catherine! (Yolaine Dupont)
Thanks! This has been on my To Do list for 4 days. ‘Glad I got it DONE! (Hug Your Kids Today)
(Elizabeth Joshi commented on your link): “Enjoyed reading this!”
(Gina Gareau-Clark commented on your link): “that came out great, Catherine! Proud to be a part of it!”
Recap:
This week has been amazing with more bloggers joining the campaign, a blog for rare post featured on Huffington Post, kids wearing jeans at schools across the USA, a World Rare Disease Day Tweetup (thank you @specteams), Dr. Geeta Nayyar on ABC News in Washington, DC talking with Dave Lucas about World Rare Disease Day (and reminding everyone to wear jeans on Sunday!), and we even have Patrick Guelfo running the Rock N’ Roll Marathon tomorrow in New Orleans wearing a jeans ribbon!
Get clicking – here are several more great links just in time for February 28, 2010.
Emil’s Blog (Kakkis Everylife)
Harvesting Hope from Heartache
ePatients (ePatient Dave)
Common Kindness & Huffington Post
Johan (Living with Rare Disease)
An Excellent Article (Touches on Rare Disease)
A Twitter Conversation (Funny, Science Broadly)
Bloggers, please stay tuned for future campaigns
– and my gift to you:
Please post this badge proudly – couldn’t have done a thing without all of your help!
Catherine Calhoun
P.S. Please post pictures of jeans and jeans ribbons to the Global Genes Project Facebook Page.
Blog for Rare! Bloggers from around the world come together for rare disease awareness and support for World Rare Disease Day 2010 (Feb. 28). #blog4rare
February 21, 2010 by Catherine Calhoun
Filed under Featured, Global Community
Welcome to the first official “Blog for Rare.” We’re bringing people from across the world together this week in celebration of World Rare Disease Day 2010 (February 28).
This SNiPs post is a mix of web links to specific blog posts and to bloggers who have a connection to rare disease (a blog roll of sorts). The links are in no particular order (and if I’ve left anyone out, please let me know so I can add you to the mix). Please spread the word – on the web, Facebook, and Twitter (#blog4rare, #raredisease), etc.
Small Portion of Life’s Journey
Dr. Val’s Blog (Better Health)
Moments in the Undiagnosed World
Rare Disease Blogs (Eurordis & NORD)
Claire Bidwell Smith at Mamapedia
You’re invited (Facebook event, here):
By Silvia Jané:
On the 28th of February is the World Day of Rare Diseases. I propose to make a picture of the moon and hang it (there will be a full moon) in solidarity with all people with rare diseases that share the same moon that the other inhabitants of the earth. Don’t forget the name of the place from you have took the pic!
Up Next:
Happy Birthday Genome! (And here.)
A huge thanks to all of our participants and to Lauren L. for the dog drawing (I love it).
If you have any thoughts good or bad about this blog campaign – or ideas for a next time, please post a comment here or email me at hellocatcal AT gmail DOT com. Or let any of the Children’s Rare Disease Network/Global Genes Project folks know.
Until next time,
Catherine Calhoun
Volunteer/Parent
Students Prepare for World Rare Disease Day with Blue Jeans Denim Ribbons.
February 16, 2010 by Catherine Calhoun
Filed under Featured, Global Community, Global Genes Project, Kids Helping Kids, News
Check out this article on students getting a jump on World Rare Disease Day — see news article here.
Photo by Travis Spradling of the Advocate, Baton Rouge, LA
Make Rare Disease a Top USA Health Care Priority, Vote Today at Change.org – 25 Million+, It is time to care about rare disease.
February 1, 2010 by Catherine Calhoun
Filed under Featured, News
For the millions and millions of kids and adults, brothers and sisters, moms and dads, families of every sort, friends, doctors, researchers, non-profits, foundations, research institutions, hospitals and advocacy groups,
for everyone touched by rare disease,
put on your blue jeans,
put on your blue jeans denim ribbon, and
vote for rare disease at Change.org – vote here ”25 Million+, It is time to care about rare disease.”
Ask family, friends, and strangers to vote. The first round vote ends at 5 p.m. (ET) on Thursday, February 18, 2010.
Right now we are in seventh place for “health care” ideas, we need to be in the top three ideas to make it to the finals.
Our votes can put rare disease into the top ten real American priorities – I say it’s time, don’t you? Start your World Rare Disease Day celebration today, vote for rare disease as a true health care priority. And pass it on (and on and on).
Catherine Calhoun
Parent Report from the Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data Conference
January 19, 2010 by Catherine Calhoun
Filed under Bench to Bedside, Featured
Last week I spent 3 days in Bethesda, Maryland attending a registry “boot camp” with Genetic Alliance and a rare diseases registry conference hosted by the NIH Office of Rare Diseases Research.
From what I gathered, a “registry” for rare diseases can mean a simple contact list, a collection of clinical information input by patient and/or doctor, with or without a “repository” for collection of biospecimens like bone tissue that could come from my son during a surgery (sometimes the doctors call it surgical waste).
The point of the NIH conference was to get people together to start hammering out how to design a registry of registries – a registry that would include information on many rare diseases. Anonymous (“de-identified”) information could be searched (“queried”) for disease pathways, disease targets, effective treatments, overlapping health issues, etc. The goal is better treatments and cure through a big silo-busting knowledge share. Ideally, the NIH would have a huge amount of money for a project like this. There is no money, yet.
As I was sitting at the conference my stomach flipped in a sick way. I realized that even though we follow the most stringent expert recommendations for care for my son – no one has any idea if the current treatment will actually work better than the old treatments, or work at all. Current treatments might fail just as badly as past treatments, or worse. I could very well be subjecting my son to multiple surgeries for nothing. No one will ever know until someone starts collecting the information and then compares outcomes. What do you say to that – sorry the surgeries didn’t work Billy, you want an ice cream?
Aside from my mom of rare kid existential crisis, both events were fascinating. I really liked the cooperative vibe of Genetic Alliance with its BioBank. The NIH conference was packed with many many excellent speakers. I jotted down a few “to dos” –
(1) Pay attention to the NCI “caHUB” for specimen standards,
(2) Subscribe to prism@epi.usf.edu,
(3) Pay attention to the work of Treat-NMD,
(4) Spend a few hours reading through materials on AHRQ,
(5) Avoid mission creep (repeat: stay on mission), and
(6) Watch for NORD’s comprehensive list of current rare disease registries.
There were about 75 people at the boot camp and 250 at the NIH conference (with 100 wait-listed). This seems enough for a strong start. I know we are all “rare” on the molecular level (personalized medicine) – but semantics aside, if the rare diseases community came together and advocated for funds for a rare diseases “super-registry,” I have to think it could happen. And I promise to buy everyone an ice cream for each life-changing query.
:: Catherine Calhoun
P.S. I think we should invite Google to the next registry conference.
P.P.S. Many of the materials from the “boot camp” and the NIH conference should be available soon. Check “Genetic Alliance” and “NIH Office of Rare Diseases Research.”
