Thursday, June 1, 2023

Rare Disease Idea Leads ‘Ideas For Change In America’ Competition by

March 3, 2010 by  
Filed under Health Care Policy

Ideas for Change in America is a competition that empowers citizens to identify and build momentum around a diverse range of ideas for addressing the challenges our country faces.

From January – February 2010, more than 2,500 ideas were submitted and voted on by 100,000 people across the country. The top three rated ideas from each issue category qualified for the final round.

Right now, 25 Million+, It is time to care about rare disease is rated as the #1 overall topic! Let’s help it stay at the top.  Vote here!

The 10 most popular ideas will be presented to relevant members of the Obama Administration, and will subsequently mobilize its full community to support a series of grassroots campaigns to help turn each idea into reality.

Please take a few minutes and cast your vote on behalf of the 30 million Americans affected by rare disease — that’s 1 in 10 people in the US living with a chronic or life threatening rare disease!   It’s time to care about rare!

FDA and EMA Forge Rare Disease Collaboration; Announcement Coincides with World Rare Disease Day 2010

February 28, 2010 by  
Filed under Featured Stories, Health Care Policy

In recognition of World Rare Disease Day 2010, the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) announced that they will collaborate together and now accept a single annual report from sponsors with an orphan drug designation for rare medical conditions.

The joint announcement was made by Dr. Timothy Cote, director of FDA’s Office of Orphan Products Development and Dr. Jordi Llinares, head of Orphan Medicines at the EMA and marks an important step forward towards increasing data sharing between the two agencies.

An ‘annual report’ for an orphan drug is information that is typically provided about the development of orphan medical products, including a review and status of ongoing clinical studies, a description of the investigation plan and anticipated or current problems in the process that may impact an orphan product designation.

The submission is voluntary and applies only to sponsors who have obtained an orphan designation status for their product from both the FDA and EMA. Each regulatory body will conduct their own review and assessment of the annual report to assure the information meets all the legal and scientific requirements of each agency.

By allowing a single annual report submission to both regulatory agencies, the paperwork process is streamlined and precious time is saved as organizations can focus their energies on moving drug development forward instead of duplicating paperwork efforts. The FDA and EMA plan to exchange the annual reports electronically through a secure portal starting Feb. 28, 2010.

Hopefully, we will see more of this type of collaboration in the future by both agencies.  I am looking into filing my Orphan Drug Application for Cyclodextrin with the EMA and I am happy to see the two agencies working more closely together.

Denim Blue Jeans Ribbon To Symbolize Rare Disease Awareness; New Campaign of Jeans and Genes A Perfect Fit!

February 1, 2010 by  
Filed under Rare Disease

The Rare Disease community now has a powerful and universal new symbol to rally around — a blue jeans denim ribbon created by the Global Genes Project and the Children’s Rare Disease Network.  The worldwide initiative lauched today and is focused on raising awareness for millions of children living with rare and debilitating diseases like Addi and Cassi.  

Just like the pink ribbon symbolizes breast cancer awareness and the red dress created by the American Heart Association symbolizes heart health, the denim jeans ribbon is a perfect fit to symbolize the countless illnesses that involve gene defects like Niemann Pick Type C, Cystic Fibrosis, Prader-Willi, and Fragile X.

Numerous Corporations, Non-Profit Foundations, Research Institutions, Hospitals and Advocacy Groups are supporting this new demin campaign for rare disease.  Below is the press release announcing the initiative which is just in time for World Rare Disease Day 2010.

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,, FasterCures, FreeForm, Genetic Alliance,, 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 Denim jeans and ribbon wearing supporters can submit digital photos on Facebook: To join the growing list of supporters, visit  Global Genes Project Twibbons can be found here.

Stem Cells For Dummies: The Controvery, Pros and Cons, Facts, Future Research

January 27, 2010 by  
Filed under Featured Stories, Stem Cells

Stem Cells for Dummies CoverOk, I admit it. I am a Dummie!  Especially when it comes to Science!  I do hold a Bachelor of Arts in Political Science from Berkeley but it’s not exactly the type of “Science” degree you need when your children are dying from a rare cholesterol disease that causes dementia.

All of a sudden topics like gene therapy and stem cells are very important topics in our household as research into these areas could lead to life-saving treatments for our twins.   But learning complex scientific topics like stem cells can be intimidating to many people.

Dr. Larry Goldstein, professor of cellular and molecular medicine and director of University of California San Diego’s stem cell program, has written a book in plain English on stem cells called Stem Cells for Dummies. The book is intended for anyone who wishes to learn more about stem cells, where they come from and the potential use of stem cells in medical research and in treating disease.

What is the difference between Embryonic stem cells (ESCs), Adult stem cells (ASCs) or iPS cells (Induced Pluripotent Stem Cells)?  What are the many objections to stems cell use in research and why is it such a highly controversial topic?  The book is written for the layperson, doctors or even someone in the medical research field who is not familiar with stem cells.

Stem cell derived neurons will someday allow scientists like Dr. Goldstein determine whether breakdowns in the transport of proteins and  lipids within cells trigger the neuronal death and neurodegeneration that is a hallmark in Alzheimer’s and Niemann-Pick Type C disease.

Stem Cells for Dummies is a fantastic book that allows anyone to brush up on basic biology and learn about critical stem cell research at the same time. You can read the index of topics here. Learning about stem cells today could be life-saving for you or someone you love in the future as the world moves closer to regenerative medicine.

Sign and Circulate Jamie Heywood’s Declaration of Health Data Rights Petition Today

September 26, 2009 by  
Filed under HealthCare

Declaration of Health Data Rights petitionWired Magazine is running a great article about Jamie Heywood, co-founder of PatientsLikeMe, and his quest to make personal medical records electronic and easily accessible online.

Heywood is behind, a movement to declare our individual right to have and share our health data. Heywood has started the Declaration of Health Data Rights petition and supporters can publicly endorse it by going to HealthDataRights .org. Essentially by having access to all the health data about ourselves in a timely (key word!!) manner we can make better health decisions and save lives.

I am one person who would happily share all of our medical records like Heywood proposes.  I have been looking into a way to try and opt-out of the Hippa law Privacy Rule requirements.  I am not interested in keeping our medical records private. In fact, I want people all over the world to access our medical records in the hopes that someone can help save the lives of our twin daughters who suffer from a fatal cholesterol disease.  In some cases my doctor’s can’t talk to each other unless I give written permission.

I am asking everyone I know to endorse the Health Data Rights petition today. Our family has literally spend hours collecting Addi and Cassi’s medical records from hospitals including Lucille Packard Children’s Hospital at Stanford, Mayo Clinic, Children’s Hospital Michigan, Children’s Hospital Oakland, National Institutes of Health and Renown Children’s Hospital.

You can see the picture of the 3 inch binders I have created that contain the most important medical information on Addi and Cassi (we have two each so far). The orginal stack of paper was two feet tall!  To get all of our data to doctors at various hospitals throughout the country, I have sent hard copies of the binders to them. If they requested the records themselves, they would have to sift through the two foot stack.  Do the top doctors in the world have time to do this?

Currently, we are six months behind in gathering all of the new records – it’s a constant battle as we try and keep up and request the records for two sick kids.  There is no reason why medical records could not be in electronic form and available to anyone at a click of a button to share and easily SEARCH.

At one point, we were going to scan all of Addi and Cassi’s medical records and put them online allowing any doctor or researcher in the world to access them.  We figured out quickly that it’s simply too time consuming to tackle and manage. When you’re trying to save your kids lives you don’t have time to send Hippa release forms to hospitals and weed through fax cover sheets and garbage that hospitals often send by mail. If someone is chronically sick and dying, trying to collect all personal medical records is virtually impossible.

As a society, we are living in fear of the health and life insurance companies and the issues surrounding pre-existing conditions. We need additional legislation with health and life insurance companies to make sharing electronic medical records a reality. We would probably save billions of dollars in productivity time as well.

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