Rare Diseases

This article was originally published on Medium . Thanks to a remarkable outpouring and mobilization of rare disease advocates, August 2016 will go down in the books as the “Summer of Cures.” While our journey on the “#Path2Cures” began three years ago, many, many advocates have been fighting for cures for much longer. Together, we’ve made incredible strides in our effort to deliver #CuresNow. Every story, every single voice matters, and we are grateful for your support and willingness to share your personal experiences with disease. It’s been a tremendous effort by the rare disease community and I am proud to report that we are closing in on the finish line. But we can’t get there without...
This blog post originally appeared August 3, 2016 on the Sick Chicks and The Mighty . "Congress is working together on a nonpartisan issue that will have a profound effect on the lives of all Americans. H.R. 6, the 21st Century Cures Act, will bring our health care innovation infrastructure into the 21st Century, delivering hope for patients and loved ones and providing necessary resources to researchers to continue their efforts to uncover the next generation of cures and treatments." - Mission Statement , House Committee of Energy Commerce, 21st Century Cures Is it just me or do you get chills reading that paragraph? Finding advocacy allowed me take control of an uncontrollable situation...
Dear Research Advocate, The President’s signature on hard fought funding and tax legislation was enough to end the year on a high note, but there’s more good news: In an interview on C-SPAN , Senate HELP Committee Chairman Lamar Alexander (R-TN) said what many of us have been waiting to hear: “Number one, what we want to turn our attention to [in 2016] is what we call the Innovation Bill.” After the 21st Century Cures pay-fors were used to help offset lost revenues in the FY16 Omnibus/Tax package, the prospects for mandatory NIH and FDA funding seemed weak. However, not only did Chairman Alexander reiterate his support for mandatory funding, but House Energy and Commerce Committee Chairman...
Guest blog post by the National Organization for Rare Disorders. February 28 is Rare Disease Day ’€“ a time to show support for the 30 million Americans, and millions more around the world, living with rare diseases. Only a few hundred of the nearly 7,000 rare diseases have approved therapies. Many are not being studied at all by medical researchers. Often, patients ’€“ or parents of patients ’€“ feel that nothing will be done unless they raise the money, recruit the researchers and fuel the search for their own lifesaving treatment. They find themselves in a race against time, since rare diseases tend to be serious and many are life-threatening. To promote awareness of these and other rare...
Dear Research Advocate: The omnibus appropriations bill about to become law demonstrates that bipartisanship and pseudo -regular order is achievable. We won’€™t know for sure if we have true ’€œregular order’€ until Congress proceeds through the FY15 appropriations process in a timely manner ’€” something that hasn’€™t happened for many years. The importance of regular order is that the public’€™s interests are heard from in hearings, and every Member of Congress participates in priority-setting instead of only having the opportunity to cast a single up-or-down vote. Regular order is worth working toward, since at least one priority we all care about did not fare well in the omnibus. The...
Dear Research Advocate: Our elected representatives know they must make hard tax and entitlement reform decisions, and, for the sake of the nation, ensure those decisions foster economic growth and societal progress. Part of that equation is federal funding for medical research sufficient to capitalize on unprecedented scientific opportunity and tackle urgent threats like Alzheimer’€™s Disease. As I’€™ve highlighted before, a majority of Americans say they are willing to pay additional taxes ’€” $1 more per week (which amounts to approximately $4.4 billion annually) ’€” if they knew those dollars were funding medical research. The public is on our side with their wallets as well as their...
Dear Research Advocate: Our elected representatives know they must make hard tax and entitlement reform decisions, and, for the sake of the nation, ensure those decisions foster economic growth and societal progress. Part of that equation is federal funding for medical research sufficient to capitalize on unprecedented scientific opportunity and tackle urgent threats like Alzheimer’€™s Disease. As I’€™ve highlighted before, a majority of Americans say they are willing to pay additional taxes ’€” $1 more per week (which amounts to approximately $4.4 billion annually) ’€” if they knew those dollars were funding medical research. The public is on our side with their wallets as well as their...
Only Small Percentage say Health Care Professionals Have Ever Talked to Them about Medical Research ALEXANDRIA, Va. – June 12, 2013 – More than two-thirds (72%) of Americans say it’s likely they would participate in a clinical trial if recommended by their doctor, but only 22% say a doctor or other health care professional has ever talked to them about medical research, according to a new national public opinion poll commissioned by Research!America. A wide majority (80%) say they have heard of a clinical trial – more than half (53%) through the Internet and only 24% from a doctor or other health care provider. Only 16% of those polled say they or someone in their family have ever...
On February 28, Rare Disease Day , more than 60 countries and hundreds of organizations come together to raise awareness of the plight of those afflicted with rare diseases. Although rare diseases affect more than 100 million people worldwide, there is limited public awareness and insufficient research funding to develop tools to prevent and treat these diseases. This year, the theme of the day is ’€œRare Disorders Without Borders.’€ Advances in rare disease research are far more likely to succeed if teams of researchers from different countries pool resources, share findings and work together to find new solutions. There are clear parallels between these rare diseases and neglected...

Sidebar Quote

If concerted, long-term investments in research are not made, America will lose an entire generation of young scientists.
Brenda Canine, PhD; McLaughlin Research Institute, Montana