Ella – Shine the Light on Aniridia
July 2, 2010 by CheckOrphan
Filed under CheckOrphan
Shortly after being born in 2006, Ella was diagnosed with WAGR syndrome, a rare chromosome disorder. Babies born with this syndrome often have no iris in their eyes, a condition called aniridia. They also have a 50% chance of developing Wilms Tummor, a cancer of the kidneys that typically occurs in children, and they are also prone to genitourinary problems and mental retardation.
Last year, during a routine checkup, Ella was found to have developed kidney cancer. After a long and difficult treatment, which included a surgical procedure and chemotherapy, she was declared cancer-free.
Ella is now three years old and her parents, James and Elly, are concerned about the possibility of her eyesight being lost or becoming very poor due to the aniridia. They have turned their hopes to the Moorfields Eye Hospital in London (United Kingdom). “It’s something I believe could be cured in this day and age,” said Elly earlier this year to JournalLive. “Especially with the stem cell technology that’s out there.”
Recently, the Cells for Sight Transplantation & Research Programme has treated several adult patients with aniridia using stem cell therapy. “The early results are promising but far from perfect” says Dr Julie Daniels, who leads the programme at Moorfields. “This outcome may not be enduring and has not been experienced by all patients treated. It is imperative that we have a better understanding of the basic biology of disease progression in aniridia in order to improve our existing therapeutic strategy and to develop novel therapies that may preserve or improve vision for longer.”
To pursue the research and find a treatment for their daughter, James and Elly are raising money for aniridia research. With the cooperation ofJustGiving, an online charity platform, they launched Shine the Light on Aniridia. “We know that the reality is her sight could be lost or become very poor; such is the nature of aniridia,” says Elly. “We cannot stand by after three years of her courage and bravery and not try and make sure that the cure for this condition is funded and found.”
How can you help?
If you want to donate or contact Ella’s parents, please visit the Shine the Light on Aniridia website here. Donations will be handled byJustGiving.
What is WAGR syndrome?
WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer and mental retardation. The term WAGR stands for the first letters of the physical and mental problems associated with the condition:
_Wilms Tumor, the most common form of kidney cancer in children.
_Aniridia, some or complete absence of the colored part of the eye, called the iris.
_Genitourinary problems, such as testicles that are not descended or abnormal location of the opening for urination in boys, or genital or urinary problems inside the body in girls.
_Mental Retardation.
People can have WAGR syndrome but not have all of the above conditions. Most people with WAGR have two or more of these conditions.
What is Aniridia?
Aniridia is a rare congenital condition characterized by the underdevelopment of the eye’s iris, the circular structure that gives the eyes its color. This usually occurs in both eyes and is associated with the poor development of the retina. Vision is severely compromised, being the disorder also associated with a number of other complications with the eye.
Sources: Aniridia Network UK, CheckOrphan, International WAGR Syndrome Association, Journal Live, Shine the Light on Aniridia
>>>>Read more at CheckOrphan blog
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
Today is Wrong Trousers Day!
June 25, 2010 by CheckOrphan
Filed under CheckOrphan
The eccentric cheese-loving inventor Wallace and his faithful dog Gromit are on a mission to help sick kids. Today, June 25th, Wallace & Gromit are encouraging people from all walks of life to join them in their nightwear. They want everyone at school, work or home to take part in the first ever pyjamas-themed Wrong Trousers Day and donate for the right to look wrong!
Wrong Trousers Day is the annual fundraising event organised by the Wallace & Gromit’s Children’s Foundation. It is backed by the Academy Award-winning plasticine characters Wallace & Gromit created by Nick Park and inspired by their film The Wrong Trousers. The event is now in its 7th year as a fundraiser and has become a hugely popular community event in the United Kingdom.
The funds collected during Wrong Trousers Day will be dedicated to improving the quality of life for children in hospitals and hospices across the UK. Over the years, the Wallace & Gromit Foundation has helped to build new children’s hospitals, provide state-of-the-art equipment, create landscape gardens and family accommodation facilities and fund specialist art, play and music therapy projects. All these ensure that whilst in hospice and hospital care, children can still play, socialise and recuperate from treatment in a child friendly environment.
To register to take part and for a free fundraising pack, contact Wrong Trousers Day at info@wrongtrousersday.org or visit www.wrongtrousersday.org, where you can find competitions and downloads, including Gromit’s Grid Game and cracking quiz questions.
>>Read more at CheckOrphan blog
Picture © Aardman/Wallace & Gromit. Used with permission. All rights reserved.
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
‘Denim Jean’ Ribbon Unveiled To Promote Rare Disease Awareness
February 1, 2010 by admin
Filed under Featured, Global Community, Global Genes Project, News
Campaign Brings Together Support from over 90 Corporations, Non-Profit Foundations, Research Institutions, Hospitals and Advocacy Groups; New Blue Jeans Denim Ribbon Unveiled To Promote Rare Disease Awareness
DANA POINT, CA – February 1, 2010 – Hope – It’s In Our Genes.™ The Children’s Rare Disease Network today announced the Global Genes Project, an initiative designed to raise awareness about the prevalence of rare diseases that afflict millions of children worldwide. Rare disease 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 rare diseases.
More than 90 corporations, non-profit foundations, research institutions and children’s hospitals have signed on to support the Global Genes Project including: 23andme, Amicus Therapeutics, Better Health, BioMarin, CheckOrphan, CollabRx, Counsyl, Coriell Institute, DonateGames.org, FasterCures, FreeForm, Genetic Alliance, Geni.com, Genzyme, Hide and Seek Foundation, Jackson Laboratory, Kakkis EveryLife Foundation, Knome, Lili Claire Foundation, Life Technologies, Mayo Clinic and Shire.
Numerous rare disease foundations from countries including Australia, Argentina, Belgium, Canada, China, New Zealand, Philippines, the United Kingdom and United States are helping support the global movement by organizing activities throughout February and leading up to World Rare Disease Day 2010.
“The Global Genes Project is providing a new platform to help unite people under a common goal and to make a difference for all children suffering from rare disease,” said Nicole Boice, Founder, Global Genes Project. “We want to create a world where children suffering from chronic disease have equal access to life saving drug treatments.”
Growing Public Health Concern; Inequity Exists
Rare disease is an important and growing global public health concern that can no longer be ignored. While each disease may be rare when considered by itself, rare disease collectively impacts the lives of millions. According to estimates from the National Institutes of Health (NIH), approximately 6,800 rare diseases exist, many of which are genetic in origin, translating to an affected population of 25-30 million Americans or approximately 1 in 10 people. In Europe, the number affected is almost identical. 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.
Despite the success of the Orphan Drug Act of 1983, pharmacologic treatments exist for only a small fraction of rare diseases, or approximately 200 of the 6,800 rare diseases. After 25 years of orphan drug regulations and legislation, the development path to approve new drugs has not stimulated orphan drug development for small populations of patients facing rare disease.
Current studies also suggest that it takes more than a dozen years and hundreds of millions of dollars to take a potential drug from discovery to the marketplace. As a result, severe inequity exists in access to care and treatment for millions of rare disease patients.
Denim Blue Jeans Ribbon Campaign
Leading up to the annual World Rare Disease Day on February 28, 2010, the Global Genes Project will help facilitate a series of denim focused awareness events, charitable activities and engage corporate sponsors, government officials, celebrities and the media to help spread its lifesaving message of hope.
“Blue is the color of strength and our blue jeans denim ribbon is an ideal symbol that expresses solidarity,” added Boice. “Genes and jeans are a natural fit – both are universal, come in pairs and are unique to the individual. It’s a simple concept that anyone can embrace and a powerful way to raise awareness for rare disease.”
The Global Genes Project is asking rare disease advocates and supporters across the world to wear denim jeans and blue jeans denim ribbons the week of February 22 and leading up to World Rare Disease Day 2010. The organization is also asking supporters to display the blue jeans denim ribbon symbol on their websites and to actively invite co-workers, friends and family and their community to join in spreading this global message.
Blue jeans denim ribbons can be obtained by visiting www.globalgenesproject.org. Denim jeans and ribbon wearing supporters can submit digital photos on Facebook. To join the growing list of supporters, visit http://www.globalgenesproject.org/sponsors.php.
About The Global Genes Project
The Global Genes Project is a campaign of the Children’s Rare Disease Network and a grassroots effort with the goal to increase awareness about the prevalence of rare diseases worldwide. The Children’s Rare Disease Network is a registered 501c3 non profit organization. For more information, visit www.crdnetwork.org or www.globalgenesproject.org.
CBS TALK SHOW “THE DOCTORS” TO FOCUS ON THE IMPORTANCE OF NEWBORN SCREENING, FEATURING ACTOR SCOTT BAIO AND HIS WIFE RENEE
On Monday, December 7th, The Doctors will be discussing the importance of comprehensive Newborn Screening with special guests, Scott and Renee Baio. Opening the show will be the Save Babies Through Screening Foundation’s (SBTS) produced Newborn Screening PSA, featuring Scott and Renee Baio. Tune in to see Scott and Renee visit a brand new mom at the hospital and be there for the moment the baby gets his comprehensive Newborn Screening. Then, the panel of doctors, along with Scott and Renee, will discuss how screening regulations are different throughout the United States and what can happen when babies aren’t screened properly. This episode could save a life; you won’t want to miss it!
Newborn screening is a vital public health activity that is essential for preventing the devastating consequences of certain metabolic, hormonal, genetic and or functional disorders not clinically recognizable at birth. If all infants are diagnosed and treated early, serious problems including disability and even death can be averted. Disparities among states screening tests persist, which could have dire consequences for an infant diagnosed with one of these rare and extremely serious birth defects. Early diagnosis and proper treatment are essential and can make the difference between lifelong impairment and healthy development.
“With all the statistics, politics, and government budgets, it is sometimes easy to overlook what newborn screening is all about – saving lives,” says Jill Levy-Fisch, President of Save Babies Through Screening Foundation. “This show is a great education and awareness opportunity for the more than 1 million viewers that typically watch the show. We are so thankful to Scott and Renee for all of their efforts to spread awareness of newborn screening. This also means that the SBTS Newborn Screening Public Service announcement will be seen by more than 1 million viewers on Monday – wonderful!”
The Doctors TV Show produced by Phil McGraw and his son Jay McGraw, talks about health and medical issues. The Doctors is hosted by ER doctor and The Bachelor contestant Travis Lane Stork, with pediatrician Jim Sears, obstetrician/gynecologist Lisa Masterson, marriage and family therapist Tara Fields, and plastic surgeon Andrew Ordon.
Jill Levy-Fisch
jf2545@aol.com
Be a voice for rare disease, your vote helps get the Children’s Rare Disease Network to Blogworld.
September 18, 2009 by Catherine Calhoun
Filed under Featured
Please vote for the Children’s Rare Disease Network, vote at Name Your Cause.
No registration required. Voting ends on September 22, 2009, and you can vote as often as every 4 hours.
Votes help the Children’s Rare Disease Network get to the Blogworld and New Media Conference in Las Vegas (October 15-17, 2009). This year they have a Cause and Activism track – any time we can learn more about how to use new media to further our cause, that’s exciting!
The top 10 causes will get a free pass to the Activism track and will be featured in the eBay/Pay Pal Cause Pavilion. The top three will also get a $500 travel voucher.
We only have a few days so please vote often and forward this link to your family and friends. Thanks!
Dr. Francis Collins, NIH Director – Meeting of the minds!
September 15, 2009 by nboice
Filed under Bench to Bedside, Featured, News
The Children’s Rare Disease Network was fortunate to be included in the first formal meeting organized by the new head of NIH, Dr. Francis Collins and his team. Allison Young, Founding Member and Legal Council, represented CRDN for these discussions, and reports below. http://videocast.nih.gov/ram/constituents090909.ram
Dr. Collins provided insight into how he perceives NIH should focus its attentions, and specifically on 5 areas that he sees as opportunities for NIH to help improve the quality of health and patients’ lives and forward the mission of NIH and it’s 27 Institutes.
At the outset, he wanted to reassure the community that he is committed to having NIH focus, once again, on truly supporting Investigator-Initiated Research. Over the years from ’03-’08, as an example, you had only a 1 in 5 chance of getting any funding, NIH support was focused on “Big Science”, and individual investigators were expected to have already done their experiments prior to submitting grant applications. Dr. Collins said that would no longer be the case and that significant attention would be given to supporting individual investigators. Dr. Collins also noted that for every $1 NIH awards, $2 are generated in the economy within the first year and each grant NIH awards creates, on average, 7 jobs. In response to some questions/statements from the audience about compelling grant proposals that were not given an award, Dr. Collins also pointed out that when it issued the call for Challenge Grant proposals, it expected to receive between 2 and 3 thousand; they received over 21,000 proposals, meaning the money NIH had for Challenge Grant Awards was used up by 3% of all the proposals received.
Before I lay out the themes he identified, I want to make sure to pass along this email address to you. NIH has created a specific email that Dr. Collins wants comments or questions or areas of concern from the community to be sent to, and he promises that he, and/or the Directors of all 27 NIH Institutes (where appropriate) will, at a minimum, read them and endeavor to do their best to provide at least some sort of substantive response to the sender. That site is NIH-LISTENS@nih.gov.
Another new tool NIH now provides via its website is called RePORT. You can use this database to see what NIH is funding and supporting. You can query in a variety of methods, including funding mechanism, Award Type, NIH Institution, all the way down to the individual grant.
The 5 areas of opportunity (one-two in particular are exceptionally relevant for us and our community), where NIH is making a commitment to the constituents:
1. Genomics. Obviously, as the former head of the Humane Genome Project, Dr. Collins understands the incredible importance in supporting and promoting research and developments in the area of genetics, including personalized medicine. He noted that supporting research into rare genetic disorders often has much broader implications. As an example, he noted certain projects such as the Human Microbiome Project and a project to map the various already identified cancer tumors in ovarian and brain tumors to create a catalog of all the genetic anomolies found in these tumors to better under and identify them and eventually craft diagnostics and therapeutics to the underlying genetic compositions. In this discussion (and for the point below) he made special note of the role of rare diseases and discoveries and advancements in rare (and particularly rare genetic) diseases for other diseases on the whole (I think we should send the story of the Hempel Children and the cyclodextrin example to the NIH-LISTENS website to meet one of his assistance requests – more on that below).
2. Translational Agenda. NIH has traditionally been dedicated on the basic scientific research side, but there is a commitment to be see this research and findings regarding diseases and these discoveries turned into actual therapeutics. In this, Dr. Collins discussed the TRND Program (The Rare and Neglected Diseases)…whereby NIH will partner with private companies to see research, particularly related to rare diseases, and whereby such companies need financial support/partners to turn these discoveries into therapeutics, actually translated in applications. In particular, he mentioned biologics, stem cell technology, gene therapy, IPS cells used to create therapeutics,etc. I believe this is an area that would be of importance to our community, and where if some of our diseases/families feel they are at a breakthrough where they could use additional dollars to turn research into treatments, they could apply to the TRND program.
***NOTE: Dr. Collins did not address this in his speech, but I want to interject and point out another NIH tool related to Rare Diseases that I found while poking around the NIH website. If you go to http://rarediseases.info.nih.gov/GARD/, this will take you to the home page of the Genetic and Rare Disease (GARD) Information Center, which is comprised of 2 NIH agencies, the Office of Rare Disease Research (ORDR) and the National Institute of Human Genome Research (NHGRI). In particular, through the GARD agency, they have a program for undiagnosed conditions, known as the Undiagnosed Disease Program: http://rarediseases..info.nih.gov/Resources.aspx?PageID=31.
3. Health Care Reform. NIH believes that one way to help with the issue of health care reform is through comparative/effectiveness research, in particular, also supporting research into alternative treatments, and/or current treatments for other conditions not traditionally treated with such. NIH plans to support pharmacogenomics and Personalized Medicine, social/behavior research (i.e., patient compliance, acceptance of alternative forms of treatment), and health care ecomonics, for example via creation of payment incentive models.
4. Global Health. NIH believes that research and information on third world diseases have application on a greater scale for other therapeutics, and plans to work more with organizations such as WHO and the Gates Foundation on global health issues.
5. Empower the Biomedical Research Community. NIH strongly believes that we must organically grow our talent in the biomedical fields, and help invigorate and encourage people to pursue careers in the field.
Dr. Collins also noted that he is commited to funding research that doesn’t fit precisely into an institution so that those areas of research don’t fall through the cracks. They have created a number of awards programs to target those areas, such as for Pioneer awards, Innovator awards, Transformers NO1 awards, etc.
He also noted that NIH received $10B from ARRA (the recovery act), another $10B in general funds and $400M for comparative/effectiveness research.. Dr. Collins claims his #1 priority is getting grants funded.
Dr. Collins also asked the community to help NIH. The key areas he wants to get feedback/assistance on are:
1. How to create a unified voice to support, and explain, the importance of medical research, and translational research
2. New ways to describe NIH’s research and what NIH is doing/achieving
3. How to keep communication channels open between NIH and the constituents
Allison Young
Children’s Rare Disease Network
Save the Date! Conferences of interest to parent advocates!
September 8, 2009 by Catherine Calhoun
Filed under News
Here are some upcoming conferences that parent advocates and advocacy groups might be interested in:
Gov 2.0 Expo in Washington, DC on September 8, 2009.
The FEAST Conference in New York City, NY on October 1, 2009.
American Academy of Pediatrics in Washington, DC on October 17 – 20, 2009.
Bone and Joint Decade Global Network Conference in Washington, DC on October 21 – 24, 2009.
Burrill Personalized Medicine Meeting, San Francisco Nov 10 – 11, 2009. http://www.burrillandco.com/personalized_medicine_2008/
Partnering for Cures in New York City, NY on December 1 – 3, 2009.
TED2010 in Long Beach, CA on February 9 – 13, 2010.
National Summit on Disability Policy in Washington, DC on July 25 – 27, 2010.
No time or money for travel, see PALS for informative monthly webinars and Personal Democracy Forum for amazing teleconferences/podcasts.
Catherine Calhoun
