Key clinical studies of Regeneron's ARCALYST (rilonacept) for treatment of CAPS published Aug 12, 2008
"The ultimate goal of our work over the last ten years has been to find an effective therapy for Cryopyrin-Associated Periodic Syndromes. We began by characterizing the unusual clinical features and debilitating impact of CAPS and then discovered the underlying genetic basis of the disease. A major concern was whether a pharmaceutical company would expend the significant resources necessary to develop a treatment for a disease that has been diagnosed in only a few hundred patients in the United... (EurekAlert!)
Drug price hikes draw scrutiny from lawmakers Aug 10, 2008
Rare diseases targeted"Our products are relatively inexpensive and save lives," Young said. The Pharmaceutical Research and Manufacturers of America said Friday medicines to treat rare diseases are subject to price increases because they are often more costly and risky to develop. (MSNBC -- Health)
Oi! Silence is green and golden Aug 2, 2008
Which, in more reasonable times, might prompt members of the public to wonder if their heroes were people who cured rare diseases and extinguished bush fires, or kids who could negative split in the final of the 100 metres breaststroke. In the next few weeks, however, with Mel and Kochie back in the studio telling Nanna and Uncle Ron that little Kylie's bronze in the butterfly was the greatest contribution to Australia life since Duncan Hills-Hoist patented his clothes drying contraption, expect... (Sydney Morning Herald -- Sport)
Clinuvel gets orphan-drug status in US Jul 29, 2008
Orphan drug status is granted to new drugs or therapies to treat rare diseases or conditions that affect smaller populations in the United States. It allows for an accelerated review process by the FDA and seven-year market exclusivity in the US upon obtaining marketing authorisation. (The Age)
A night at The Swamp Jul 26, 2008
Note: The Gator Charity Challenge was held in association with Uplifting Athletes to help raise the public awareness of rare diseases, which often receive less attention than others. Uplifting Athletes is a charitable organization leading an effort to align college football with rare diseases and raise them as a national priority. (Florida Sports -- Rivals.com)
Rare Disease, Rarer Chance of Paying for It Jul 25, 2008
The price of drugs that help people cope with extremely rare diseases is crippling families caring for loved ones in dire need of medical attention, several people told members of Congress today. On July 24, 2008, a congressional panel examined large price tags attached to small market drugs. (ABC News)
Canada should follow the U.S. example on 'orphan' diseases Jul 18, 2008
Twenty-five years later, Canada remains one of the only developed countries that has not followed the lead of its neighbour to the south and foster drug development to help those with rare diseases ... So let's be thankful for the dogged determination of Don Bell, member of Parliament for North Vancouver, who crafted the private member's motion M-426 calling on the government to "respond specifically to the challenges faced by Canadians with rare diseases and disorders.". (Globe and Mail)
Edison Pharma Hits Milestone as A0001 Enters Phase 1 Clinical Development Jul 15, 2008
CoQ10 is a first-line therapy for many rare diseases of energy metabolism. Efforts to improve CoQ10 have centered on improving its oral absorption properties. (PR Newswire)
Event strengthens team unity Jul 14, 2008
Since its inception, Lift of Life and its parent group Uplifting Athletes, has raised $300,000 for kidney cancer and other rare diseases, which are diseases that affect fewer than 200,000 Americans. Because of their obscurity, rare diseases do not receive the same amount of funding as other diseases. (Daily Collegian, PA)
Firm thrives making drugs for rare conditions Jul 13, 2008
BioMarin also benefited from regulatory incentives for companies that take on rare diseases. Under the Orphan Drug Act, passed 25 years ago, such companies can receive fast-track drug approvals and more than seven years of U.S. market exclusivity. (San Francisco Chronicle -- Business)
Edison Pharmaceuticals Receives Commendation From the City of San Jose Jul 7, 2008
Mayor Chuck Reed recognizes contribution to city and children with rare diseases SAN JOSE, Calif ... "I congratulate Edison on achieving high performance standards and for the commitment of its founder Dr. Guy Miller and his team to improving the lives of children throughout the world." About Edison Pharmaceuticals Edison Pharmaceuticals, Inc., a biotechnology company based in Silicon Valley California at the San Jose Biocenter, is focused on developing drugs for rare diseases that impair energy... (PR Newswire)
A New President at the Head of the Genethon Laboratory Jul 7, 2008
"I will be placing all my experience at the service of the AFM and Genethon," declares Yves Champey, "with 3 objectives: successfully implementing the clinical trials programs, reinforcing the position of Genethon as a not-for-profit entity of research and development, and developing the innovative biotherapies for the treatment of rare diseases. My ambition is also to open the way to substantial joint projects with the pharmaceutical and biotechnological industries and to develop those that... (Canada Newswire)
Peritoneal Cancer; the Silent & Unk... Jun 27, 2008
Peritoneal cancer is a rare diseases that sneaks up and hangs around unnoticed by most people until it is a well-developed cancer, when the symptoms begin to show up. There is no known cause, although a history of breast cancer in the family may be a warning sign. (Suite101.com)
Lift for Life set for July 11 Jun 20, 2008
Uplifting Athletes is an organization of Penn State football student-athletes working together to raise awareness and funds for rare diseases. These rare diseases affect fewer than 200,000 Americans and consequently little attention is paid to them ... Uplifting Athletes, Inc. is a 501(c)3 nonprofit organization that operates as a national charter and serves as a uniting force to help change the perception of rare diseases. (Penn State Sports -- Rivals.com)
Old stem cells can regain youth Jun 17, 2008
Stem cells from bone marrow can reconstitute the immune systems of patients with leukaemia and rare diseases, but other uses of the cells are experimental. More Health/Sci. (India Times, India -- Health/Science)
Stem cell field grows despite controversy: experts Jun 15, 2008
Stem cells from bone marrow can reconstitute the immune systems of patients with leukaemia and rare diseases, but other uses of the cells are experimental. The only controversial stem cells are those taken from human embryos. (Scientific American)
3 sequencing companies join 1000 Genomes Project Jun 12, 2008
It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments and cures for both common and rare diseases. For more, visit. (EurekAlert! -- Business News)
Old Drugs, New Tricks Jun 11, 2008
Last year, for example, the U.S. Food and Drug Administration , many of which treat pretty rare diseases or offer little benefit over older medications. If the greatest medical advances depend mostly on small but consistent improvements in the use of old drugs, why do certain specialties (such as psychiatry) fall behind others (such as cardiology) in producing major results, like a 50 percent population-wide improvement. (Slate)
Kids’ cancer rates are highest in the Northeast Jun 10, 2008
As a parent raising a family in the Northeast, this does not at all increase my concern for my family or for my neighbors, Levy said, adding, First and foremost, these are still very rare diseases in children. Regional differences in rates for some specific cancers have been found in adults, but these are likely due to personal habits and lifestyle factors, Ward said. (Montana Standard, MT)
Inspiring High School Senior and Cancer Survivor Leanna Elizade to ... Jun 8, 2008
Amy Marcus, 2005 Pulitzer Prize winner, reporter for the Wall Street Journal with a focus on rare diseases, cancer, and patient advocacy & Robert Wood Johnson Investigator Award 2006 (Topic: Improving the Cancer Care Experience for Rare Cancer Survivors). Dr. Laura Nabors, Associate Professor of Psychology at University of Cincinnati. (FOXBusiness)
Inspiring High School Senior and Cancer Survivor Leanna Elizade to Receive College Scholarship Award Jun 7, 2008
2008 College Scholarship Committee: Chair: Carolyn Rubenstein Dr. Catherine Bagwell, Associate Professor of Psychology at University of Richmond Dr. Melanie Bonner, Assistant Professor of Pediatric Psychology at Duke University Medical Center and Director of Graduate Studies for Department of Psychology and Neuroscience Dr. Ronald Brown, Dean of College of Health Professions at Temple University and Editor-in-Chief of Journal of Pediatric Psychology Dr. Heather Conklin, Pediatric... (PR Newswire)
Long-term pesticide exposure may increase risk of diabetes Jun 5, 2008
It is the primary federal agency for conducting and supporting basic, clinical, and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit. (EurekAlert!)
A 'drug drought' for pregnant women Jun 4, 2008
Companies that make drugs for rare diseases can get tax breaks. And those that make drugs for unmet medical needs, such as cancer and AIDS, can receive "fast-track" approval. (USA Today -- News)
CSL Behring Awards Global Grants to Next Generation of Coagulation Researchers Jun 3, 2008
The company's therapies are used in the treatment of rare diseases such as immune deficiency disorders, hemophilia, von Willebrand disease, other bleeding disorders and inherited emphysema. Other products are used for the prevention of hemolytic diseases in the newborn, in cardiac surgery, organ transplantation and in the treatment of burns. (PR Newswire)
NEWSWEEK: Media Lead Sheet/June 9, 2008 Issue (on newsstands Monday June 2, 2008). Jun 2, 2008
This program is meant to help some of the 25 million people who are currently afflicted with rare diseases, some of which are so new that they don't have names yet. TIP SHEET: "Gourmets Go Underground" (p. (PR Newswire)
Patents are the wrong target May 28, 2008
The U.S. Orphan Drug Act, enacted in 1983, provides tax credits and market exclusivity for developing treatment for rare diseases. Annual creation of new treatments for rare diseases was 12 times greater in the 16 years following the passage of the Orphan Drug Act than in the previous decade. (International Herald Tribune)
Stem cell banks could pay medical dividends May 24, 2008
"There are a number of fairly rare diseases that might end up being some of the first headline successes, because they're terrible diseases wtih pretty devastating shortening of life expectancy ... and also the genetics have been well-studied," he said. "The more complex diseases might take a little more work.". (MSNBC)
'Mystery' health cases could get free treatment May 21, 2008
Those with rare diseases offered a chance for free treatment ... But federal health officials hope that unraveling some of these super-rare diseases in turn will provide clues to more common illnesses ... About 10,000 new patients a year sign up for roughly 1,500 different research studies, many of them for rare diseases, at the NIH's Bethesda, Md. (Atlanta Journal-Constitution)
U.S. Turns Spotlight on Medicine's Most Puzzling Cases May 21, 2008
The program will utilize existing facilities and staff at the NIH Clinical Center, the National Human Genome Research Institute, and the NIH Office of Rare Diseases ... "We hope to build upon our strong working relationships with many patient advocacy groups. These organizations provide a crucial link in our nation's efforts to improve health through biomedical research," Stephen Groft, director of the NIH Office of Rare Diseases, said in a prepared statement. (MEDLINEplus)
Patients with mystery diseases may get free care May 20, 2008
Program to recruit 100 people a year those with rarest of rare diseases ... But federal health officials hope that unraveling some of these super-rare diseases in turn will provide clues to more common illnesses ... Rarest of rare diseasesAbout 10,000 new patients a year sign up for roughly 1,500 different research studies, many of them for rare diseases, at the NIHs Bethesda, Md. (MSNBC -- Health)
Those with rare diseases offered a chance for free treatment May 20, 2008
Durham, Chapel Hill and the Research Triangle Region. By LAURAN NEERGAARD May 19, 2008. (Herald Sun)
NIH launches undiagnosed diseases program May 20, 2008
D., director of the NIH Office of Rare Diseases (ORD) ... The NIH Office of Rare Diseases stimulates and coordinates research on rare diseases and supports research to respond to the needs of patients, healthcare providers and the research communities involved in the care, treatment, and evaluation of products for the prevention, diagnosis, or treatment of these conditions ... It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and... (EurekAlert! -- Business News)
MPs back orphan drug proposal May 9, 2008
Private member's motion M-426, which passed on Wednesday, requires the government to examine options for defining rare diseases and disorders, to consider creating a fund to improve access to treatments, and to explore ways to encourage drug research, Liberal MP Don Bell said yesterday. "Since May, 2006, there have been 90 private members' bills and motions," Mr. Bell said. (Globe and Mail -- National)
Shire's on its way May 8, 2008
HGT specializes in discovering, developing and commercializing protein-based gene therapies primarily for the treatment of genetic and rare diseases. Related Stories Comments Thank you for the abuse report. (Lexington Minuteman, MA)
Gene That Can Make Half Of Us Fatter Found May 5, 2008
New DNA Variants Found That Can Help To Pile On The Pounds. New DNA Variants Found That Can Help To Pile On The Pounds. (Science Daily)
Second genetic link to weight and obesity May 5, 2008
Public release date: 4-May-2008. New DNA variants found that can help to pile on the pounds. (EurekAlert!)
Innovation Works touts 2007 success stories May 2, 2008
An orphan drug is one that treats relatively rare diseases. The designation makes the company eligible for incentives for further development of the drug, which might not be economically feasible otherwise. (Pittsburgh Post-Gazette, PA)
Boom in camps that bring summer fun to sick kids; maybe less stigma Apr 22, 2008
Even rare diseases are getting camps, like ones Weinstein organized for Tourette s syndrome and neurofibromatosis, a genetic disorder where multiple tumors form on or just under children s skin. In many ways, chronic. (Montana Standard, MT)
NIH's National Library of Medicine Opens Exciting New Interactive Exhibition, ''Against the Odds: Making a Difference in Global Health'' Apr 18, 2008
" Dr. Fee's office manages the Library's exhibition program.The exhibition features several public health heroes such as: Dr. Victoria Cargill, director of clinical studies and director of minority research of the NIH Office of AIDS Research, Bethesda, Md., and a respected AIDS clinician in Washington, D.C.; Dr. Jack Geiger, New York City, a founding member and past president of Physicians for Human Rights, and the architect of the community health center network in the United States; and Jeanne... (Yahoo! Wire -- Entertainment News)
Study provides new understanding of forces behind seasonal flu virus evolution Apr 17, 2008
WHAT: Do influenza viruses persist in low levels year-round in the northern and southern hemispheres, or does a new crop of the virus emerge afresh in tropical zones such as Southeast Asia before spreading into temperate regions around the globe" Researchers have provided an answer to this long-standing question: new strains arise each year. The new findings should help public health officials more quickly and accurately determine which strains to include in the annual flu vaccine. The study,... (EurekAlert!)
Special-needs summer camps booming Apr 15, 2008
Even rare diseases are getting camps, like ones Weinstein organized for Tourette's syndrome and neurofibromatosis, a genetic disorder where multiple tumors form on or just under children's skin. In many ways, chronic-disease camps are like any summer camp, with some extra safety steps and accommodations. (MSNBC -- Health)
Boosting awareness tenfold Apr 15, 2008
When you put them all together, there are 9,000 rare diseases that affect 90 million Americans. For information on myositis, visit www. (Bolton Common, MA)
When an orphan drug is a patient's only hope Apr 14, 2008
Without a new standard, drugs for rare diseases are far less likely to be approved for provincial government funding ... Though the U.S. policy does not necessarily provide access to rare drugs, it has been successful in providing incentives to pharmaceutical companies to find treatments for rare diseases ... Laurel Ostfield, press secretary to Ontario Health Minister George Smitherman, said the ministry is developing a new and innovative approach to how drugs for rare diseases are reviewed. (Globe and Mail -- National)
New drug rules: life-saver or safety risk? Apr 12, 2008
Some advocacy groups say the move is a much-needed development that will improve access to breakthrough, live-saving drugs or treatments for rare diseases ... It also states that certain drugs, such as those to treat rare diseases, or groundbreaking therapies about which data may be limited, may be able to make it to market without the evidence that's normally required. (Globe and Mail)
Experts sound alarm on drug-approval plan Apr 11, 2008
The paper states that clinical data on some drugs, including breakthrough medicines or treatments for rare diseases, may be limited before they are approved. The paper says progressive licensing would allow them onto the market, where federal health officials would closely monitor their safety. (Globe and Mail)
Rocker's widow pushes for skin cancer research Apr 9, 2008
Merkel cell carcinoma provides a poignant glimpse of the desperate intersection of research dollars and the suffering wrought by rare diseases ... Rare diseases always struggle against more common killers for funding. (Atlanta Journal-Constitution)
Worst skin cancer struggles for research funds Apr 8, 2008
Merkel cell carcinoma provides a poignant glimpse of the desperate intersection of research dollars and the suffering wrought by rare diseases ... Rare diseases' struggle for research fundsIndeed, for two decades, Merkel cell research has depended on small pilot grants and family fundraising like Whatley's, says Nghiem ... Rare diseases always struggle against more common killers for funding. (MSNBC -- Health)
Drug makers turning to nonprofits for cash Apr 7, 2008
Even companies that might be interested in treating rare diseases weren't pursuing cystic fibrosis drugs because it is so difficult to raise money for early drug discovery work. Most investors prefer to wait until a company can offer some preliminary evidence that it's on the right track before pouring in tens of millions of dollars into a fledgling research program. (Boston Globe)
Rare genetic mutations protect against hypertension Apr 7, 2008
The scientists had previously shown that mutations in the three salt handling genes cause several rare diseases that are characterized by low blood pressure. By sequencing DNA samples obtained from 3,125 people who are participating in the Framingham Heart Study, the researchers identified new functional mutations in these three genes that are likely to be carried by an estimated 100 million people worldwide. (EurekAlert!)
Heartache, hope fuel Olympic torchbearers Apr 5, 2008
He was diagnosed a year ago with Friedreich's ataxia, a genetic disease that "took me hostage and has ruled with tyranny over my muscles." He's forming a nonprofit to aid people with rare diseases. The winners are an eclectic lot - as varied as the 136-day journey of the torch itself, which will cover 85,625 miles and stop in San Francisco between Paris and Buenos Aires. (San Francisco Chronicle)
Newsweek: Why FDA should oversee genetic tests Apr 4, 2008
Kathy Hudson: Most of them are for rare diseases that are hard to pronounce. They range from tests for birth defects and mental retardation to tests for various types of cancers, like retinoblastoma, breast cancer and colon cancer. (MSNBC -- Health)
Major collaboration uncovers surprising new genetic clues to diabetes Mar 31, 2008
However, until we know how to use this information to prompt beneficial changes in peoples treatment or lifestyle, widespread genetic testing would be premature," said another senior author, David Altshuler, M.D., Ph.D., of Massachusetts General Hospital in Boston and the Broad Institute of Massachusetts Institute of Technology and Harvard in Cambridge, Mass. Type 2 diabetes affects more than 200 million people worldwide, including nearly 21 million people in the United States. Previously known... (EurekAlert!)
Key Factor In Brain Development Revealed, Offers Insight Into Disorder Mar 28, 2008
It gives insight, he says, into these rare diseases and what s important for normal brain development. The co-first authors of the study were Jessica Yingling and Yong Ha Youn. (Science Daily)
Gene vital to brain development found Mar 28, 2008
"It gives insight into these rare diseases and what's important for normal brain development," he says. During the course of study, the scientists investigated embryonic mice genetically engineered to completely lack LIS1 in their cells at various stages of embryonic development. (India Times, India -- Health/Science)
VH1 and Sundance Channel to Air Original Four-Part Documentary Series From Perry Films, 'Sex: The Revolution' Premiering on VH1, Monday, May 12 - Thursday, May 15 at 10pm* Each Night Mar 25, 2008
In 1981 and 1982, newspapers and magazines publish the first reports of a mysterious outbreak of two rare diseases in homosexual men. With frightening speed, AIDS slams into gay communities all over the country, snuffing out thousands of lives and becoming the new crucible of the culture wars. (Yahoo! Wire -- Entertainment News)
FDA Clears Cephalon Chemotherapy Drug Mar 21, 2008
FDA approved Treanda under the orphan drug program, which awards market exclusivity to companies that develop drugs for rare diseases. Cephalon will have exclusive marketing rights until 2015. (Houston Chronicle)
Biotech leader charged with fraud Mar 19, 2008
Actimmune is approved for two rare diseases afflicting children, but the Food and Drug Administration never approved it for idiopathic pulmonary fibrosis. In general, companies have been forbidden to market medicines for unapproved uses, though doctors are legally free to prescribe drugs off-label if they think scientific evidence warrants it. (San Francisco Chronicle -- Business)
Gene Therapy Could Save Kids From A Lifetime Of Eating Cornstarch Mar 15, 2008
"There are not a lot of companies developing treatments for rare diseases," he added. GSD-Ia occurs in about one of every 100,000 births in the U.S. Duke is treating about 100 patients with the disease. (Science Daily)
Call the Courier (2) Mar 7, 2008
Researchers say it can be caused by a change in one of the genes that contributes to eye color, injury around the time of birth or later in life, some medications or a few rare diseases. Q: Is there a road that runs along the Mississippi River where someone can bike from Iowa all the way down to the Gulf. (Waterloo-Cedar Falls Courier)
Cambridge biotech firms departing city for suburbs Mar 2, 2008
Genzyme, which mainly develops expensive drugs to treat rare diseases, has had a presence in Framingham since it bought a small biotech company there in 1989, and has gradually expanded the operations. It now has 4,500 employees statewide, including 1,330 in Cambridge and 1,800 in Framingham. (Boston Globe)
Increased allergen levels in homes linked to asthma Mar 1, 2008
"Our results highlight the importance of reducing exposure to allergens as a fundamental part of asthma management, she said. Although homes cannot be made allergen free, asthmatics that have allergies may need to do a better job in reducing allergen levels in their homes to improve asthma control. This finding is the first to provide information on total allergen burden in U.S. homes and how it relates to asthma. This study confirms that indoor allergens play a major role in asthma, Zeldin... (EurekAlert!)
VIDEO from Medialink and Shire plc: Rare Diseases Must Be Top of the Health Agenda Feb 29, 2008
First European Rare Disease Day highlights impact on people affected by rare diseases NEW YORK, Feb. 28 /PRNewswire/ -- European Rare Disease Day -- The first ever European Rare Disease Day will be launched on Friday 29 February ... (See video from Shire plc at: ) Collectively, rare diseases aren't rare ... Rare diseases are defined as those that affect less than 5 in 10,000 people, yet there are approximately 7000 rare diseases, affecting up to 30 million people in the European Union. (PR Newswire)
/R E P E A T -- Media invitation - Rare Day for Rare Diseases/ Feb 29, 2008
R E P E A T -- Media invitation - Rare Day for Rare Diseases. The Portail Qu;b;cois des Maladies G;n;tiques Orphelines (PQMGO) urges for more services for patients with rare diseases MONTREAL, Feb. 27 /CNW Telbec/ - Have you ever heard of metachromatic leukodystrophy, Leopard syndrome, DiGeorge Syndrome ... They are rare diseases. (Canada Newswire)
Disability is our most pressing challenge Feb 21, 2008
In these cases, which are often rare diseases unfamiliar to reviewers, allowances will be made as soon as the diagnosis is confirmed. In December 2007, we held the first public hearing on this initiative and will hold three more hearings this year. (Belmont Citizen Herald, MA)
FDA would let drug makers tip doctors to other uses Feb 16, 2008
Diane Dorman, a vice president at the National Organization for Rare Disorders, said her group supports the proposal, because "there is very little information out there about rare diseases.". (Reporting by Kim Dixon; Editing by Tim Dobbyn). (Scientific American)
