This is a press release I thought readers would find interesting. I really want to stress a few points here for the HPS and CHS community. Note the release says there are more than 7,000 rare diseases and only 200 are really being researched by the government. Our disorders are included in that bunch. We can't take that for granted. We have to be active in supporting our researchers both in and out of government.
When I first got involved with the HPS Network and became aware of NORD, or the Office of Rare Diseases or the Genetic Alliance the number of rare diseases (those affecting fewer than 200,000) was quoted at 6,000 - not 7,000. More and more disorders are being discovered every day as the science gets better. Unfortunately, that can also mean the competition for the attention of science is increasing as well.
The thruth is as much as researchers might have their hearts invested in our cause, they can't run their labs on air. They will of course be drawn to the disorders that can offer them both eager patients and research dollars.
Currently the HPS Network is in a real financial tough spot. One of our researchers is being asked to cut her HPS mouse colony because of the expense of maintaining it. These aren't feild mice we're talking about that are a dime a dozen. They're specially bred and cared for mice without which our research won't be possible.
We make incredible strides with the matching grant we were able to offer through the American Thoracic Society several years ago. We need to do it again to keep the attention of the research world and to keep the research moving.
And then there's the GI issues of HPS. We focus on the pulmonary issues because they are life threatening and there is no treatment - thus no one is really looking at the GI issues of Hermansky-Pudlak Syndrome. We may live with the GI issues, but it can be very debilitating for many of us. We aren't going to get the attention of the GI world unless we can put a grant out there - that simple.
The release says it's not right that the burden of funding research falls on patients and parents. I agree. I think we should do whatever we can to increase funding in this area. In the meantime, however, we don't have time to wait either. We need action now!
I know I can be annoying harping on the fundraising. Believe me. I hate it. But, this is the way it is.
We've got to keep up the great efforts like everyone did on the Chase contest. We didn't win, but we will someday. The way everyone got involved was amazing. We need to do the same things with the little things under our noses right now, like www.goodsearch.com etc.
Okay, I'm stepping off the soapbox now.....grin.
FOR IMMEDIATE RELEASE
July 21, 2010
WASHINGTON DC-----An advocate for people with rare diseases today told a U.S. Senate committee that the burden of funding and driving research on rare diseases too often falls upon patients and their families.
"As a society, it is wrong for us to expect people with devastating diseases to fund the search for their treatments," said Diane Dorman, vice president for public policy of the National Organization for Rare Disorders (NORD). "There are nearly 7,000 rare diseases, and only about 200 of them in government, academia or industry.
"Through golf tournaments, raffles even bake sales and car washes, it's too often the patient community that funds and drives rare-disease research. We need a more significant commitment at the federal level."
Dorman said the word "rare" is misleading, since about one in 10 Americans have diseases classified as rare. While each disease is unique, there are many problems and challenges that all people with rare diseases share, she added.
Dorman told the committee that federal funding and guidelines are needed for natural history studies, patient registries and other basic tools to make clinical research possible. And, she said the Food and Drug Administration (FDA) should institute a statement of policy on rare diseases and orphan products to reduce regulatory uncertainty and encourage researchers to develop treatments for diseases that have none.
She also urged the nation's medical schools to enhance training on rare diseases. "NORD believes our nation is blessed with a caring and dedicated medical establishment," she said. "But we urge a greater emphasis on rare diseases in medical education centers to prepare young clinicians to treat these diseases and encourage young investigators to study them."
Dorman made her comments in invited testimony before a Senate Committee on Health, Education, Labor, and Pensions hearing on the topic, "Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures." The hearing was co-hosted by Committee Chair Senator Tom Harkin (D-IA)and Ranking Member Senator Michael B. Enzi (R-WY).
To address the lack of treatments, Dorman told the committee, NORD has launched several recent initiatives that offer hope for the future, working closely with FDA and the National Institutes of Health. These include:
a new training course and a handbook to prepare researchers for the special challenges of studying rare diseases
a task force to help NIH and FDA identify ways to work together more effectively and
a series of focus groups through which stakeholders academic researchers, patient organizations, industry, and investors share their views with NIH and FDA officials.
NORD is a non-profit organization representing all Americans with rare diseases. It was founded in 1983 by leaders of patient organizations and provides programs of education, advocacy, patient services and research.
CONTACT:
Mary Dunkle
Vice President for Communications, NORD
mdunkle@rarediseases.org
When I first got involved with the HPS Network and became aware of NORD, or the Office of Rare Diseases or the Genetic Alliance the number of rare diseases (those affecting fewer than 200,000) was quoted at 6,000 - not 7,000. More and more disorders are being discovered every day as the science gets better. Unfortunately, that can also mean the competition for the attention of science is increasing as well.
The thruth is as much as researchers might have their hearts invested in our cause, they can't run their labs on air. They will of course be drawn to the disorders that can offer them both eager patients and research dollars.
Currently the HPS Network is in a real financial tough spot. One of our researchers is being asked to cut her HPS mouse colony because of the expense of maintaining it. These aren't feild mice we're talking about that are a dime a dozen. They're specially bred and cared for mice without which our research won't be possible.
We make incredible strides with the matching grant we were able to offer through the American Thoracic Society several years ago. We need to do it again to keep the attention of the research world and to keep the research moving.
And then there's the GI issues of HPS. We focus on the pulmonary issues because they are life threatening and there is no treatment - thus no one is really looking at the GI issues of Hermansky-Pudlak Syndrome. We may live with the GI issues, but it can be very debilitating for many of us. We aren't going to get the attention of the GI world unless we can put a grant out there - that simple.
The release says it's not right that the burden of funding research falls on patients and parents. I agree. I think we should do whatever we can to increase funding in this area. In the meantime, however, we don't have time to wait either. We need action now!
I know I can be annoying harping on the fundraising. Believe me. I hate it. But, this is the way it is.
We've got to keep up the great efforts like everyone did on the Chase contest. We didn't win, but we will someday. The way everyone got involved was amazing. We need to do the same things with the little things under our noses right now, like www.goodsearch.com etc.
Okay, I'm stepping off the soapbox now.....grin.
FOR IMMEDIATE RELEASE
July 21, 2010
WASHINGTON DC-----An advocate for people with rare diseases today told a U.S. Senate committee that the burden of funding and driving research on rare diseases too often falls upon patients and their families.
"As a society, it is wrong for us to expect people with devastating diseases to fund the search for their treatments," said Diane Dorman, vice president for public policy of the National Organization for Rare Disorders (NORD). "There are nearly 7,000 rare diseases, and only about 200 of them in government, academia or industry.
"Through golf tournaments, raffles even bake sales and car washes, it's too often the patient community that funds and drives rare-disease research. We need a more significant commitment at the federal level."
Dorman said the word "rare" is misleading, since about one in 10 Americans have diseases classified as rare. While each disease is unique, there are many problems and challenges that all people with rare diseases share, she added.
Dorman told the committee that federal funding and guidelines are needed for natural history studies, patient registries and other basic tools to make clinical research possible. And, she said the Food and Drug Administration (FDA) should institute a statement of policy on rare diseases and orphan products to reduce regulatory uncertainty and encourage researchers to develop treatments for diseases that have none.
She also urged the nation's medical schools to enhance training on rare diseases. "NORD believes our nation is blessed with a caring and dedicated medical establishment," she said. "But we urge a greater emphasis on rare diseases in medical education centers to prepare young clinicians to treat these diseases and encourage young investigators to study them."
Dorman made her comments in invited testimony before a Senate Committee on Health, Education, Labor, and Pensions hearing on the topic, "Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures." The hearing was co-hosted by Committee Chair Senator Tom Harkin (D-IA)and Ranking Member Senator Michael B. Enzi (R-WY).
To address the lack of treatments, Dorman told the committee, NORD has launched several recent initiatives that offer hope for the future, working closely with FDA and the National Institutes of Health. These include:
a new training course and a handbook to prepare researchers for the special challenges of studying rare diseases
a task force to help NIH and FDA identify ways to work together more effectively and
a series of focus groups through which stakeholders academic researchers, patient organizations, industry, and investors share their views with NIH and FDA officials.
NORD is a non-profit organization representing all Americans with rare diseases. It was founded in 1983 by leaders of patient organizations and provides programs of education, advocacy, patient services and research.
CONTACT:
Mary Dunkle
Vice President for Communications, NORD
mdunkle@rarediseases.org
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