Tag Archives: Rare Diseases

Join NORD in Supporting Rare Disease Day!

Guest blog post by the National Organization for Rare Disorders.

NORD_Logo_2012February 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 disease challenges, the National Organization for Rare Disorders (NORD) hosts a national website where all patient advocates can find ways to show their support for Rare Disease Day.  Continue reading →

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A Weekly Advocacy Message from Mary Woolley: Promising process; disappointing progress

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 “regular 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 omnibus has failed to fund NIH at a level that fully reverses the impact of sequestration on the agency’s baseline funding level, much less establishes a growth trend that can fully unleash the potential inherent in the sequencing of the human genome and other research breakthroughs. As Drs. Paul Stoffels and Alan Leshner make crystal clear in an op-ed in Politico Magazine, we can’t settle for “better than sequestration.” If our nation wants to thrive, we need to grow our investment in science. Between 2010 and 2013, U.S. federal investments in science fell to less than 1% (.82%) of the economy. That’s the lowest it’s been in 50 years! As you know, this comes at a time when foreign nations are rapidly ramping up their R&D programs and taking a page from our playbook. Remember that global competitiveness in medical research is a pivotal determinant of our global economic competitiveness overall. We aren’t just talking about the future of our scientific enterprise, we are talking about the future of our economy. Are we truly willing to cede leadership in global R&D? (See also our statement cited in The Hill and other media outlets, as well as my interview today with UDC.) Continue reading →

A Weekly Advocacy Message from Mary Woolley: Time for a New Tax Code

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 hearts and minds!

Speaking of taxes, the Senate Finance Committee is working on a tax reform package, and Chairman Max Baucus (D-MT) and Ranking Member Orrin Hatch (R-UT) are soliciting comments from their Senate colleagues to rebuild the tax code starting from a blank state. One component that definitely should be included is the R&D tax credit. This credit is a proven engine of economic development that spurs innovation. It creates jobs and supports critical medical research that otherwise would not be conducted. However, as it stands, the credit must be reauthorized each year. This is not only absurdly inefficient, it is counterproductive since the uncertainty it creates reduces the credit’s stimulative effect on R&D. First and foremost, of course, it is critical that the R&D tax credit be included in the tax package, but it is also extremely important to make the credit permanent to amplify it as a catalyst to economic and medical progress. Click here to view the letter Research!America sent in support of the tax credit, and click here to urge your senators to work with the committee to include the R&D tax credit in the tax package and finally make it permanent. Continue reading →

New National Public Opinion Poll Shows Majority of Americans Would Participate in Clinical Trials if Recommended by Their Doctor

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 participated in clinical trials. Respondents believe individuals don’t participate because of a lack of awareness (53%), a lack of trust (53%), concerns that it’s too risky (51%), adverse health outcomes (44%), little or no monetary compensation (35%), privacy concerns (27%), and worries that it takes too much time (27%).

The findings point to the important role of health care providers in talking to their patients about clinical trials. “It is critical for providers and health systems in the U.S. to recognize the importance of generating knowledge about which treatments are best through participation in clinical trials,” said Robert Califf, MD, vice chancellor of clinical and translational research at Duke University Medical Center and board chair of the Clinical Research Forum, a co-sponsor of the poll. “Advances in common diseases like Alzheimer’s and diabetes, as well as rare diseases, depend on physicians and other members of the health care team offering their patients a chance to participate in clinical trials.” Continue reading →

Today is Rare Disease Day

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 “Rare 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 tropical diseases, such as Chagas disease and dengue fever, that are afflicting people throughout tropical regions and increasingly closer to home. These diseases are not widely known, which often leads to misdiagnoses and delayed treatment. This lack of awareness results in very little funding for research in widespread prevention and treatment. It is abundantly clear that more research is needed to better deal with these rare and neglected diseases.

On the Rare Disease Day website, you can find the Handprints Across America gallery of patients and their families. The disease names may be unfamiliar to you—scleroderma, Hermansky-Pudlak syndrome, Prader-Willi syndrome, Pompe disease, Leiber’s congenital amaurosis, and familial partial lipodystrophy Dunnigan syndrome just to name a few. But the stories paint a clear picture of the impact of rare diseases on families across the nation and around the world. More patient photos and stories can be found on Rare Disease Day’s Flickr photostream.

Research!America members like the National Organization of Rare Diseases (NORD) and the American Autoimmune Related Disease Association (AARDA), are celebrating this year’s Rare Disease Day in addition to marking the 30th anniversary of the Orphan Drug Act. The Orphan Drug Act provides financial incentives to encourage companies to develop treatments for small patient populations. Passage of the Orphan Drug Act by was successful in large part due to patient advocates and other organizations working together. However, research and advocacy are still needed for these rare and neglected diseases! Check out the Rare Disease Day page to see how you can support the rare disease community.

Other research and advocacy groups are also spreading the word about Rare Disease Day. Groups and individuals on Twitter are using the hashtag #rarediseaseday. Also see the newest blog post from National Institutes of Health Director Francis Collins, MD, PhD. The NIH is hosting the sixth annual Rare Disease Day on Feb. 28 and March 1. The two-day event will highlight the work of the NIH-funded researchers, agency partnerships and collaboration among researchers across the globe.