Dining in the Parisian skies for $1,350 a person Sep 12, 2009
The event is not only about luxury dining euro100 (US$146) for every customer goes to France's Federation of Rare Diseases, which funds research. This event shows the human dimension of French chefs, and we are very thankful for their generosity, said the federation's president, Marie-Christine Louppe. (AZCentral -- News)
Faster, Cheaper Way To Find Disease Genes In Human Genome Passes Initial Test Sep 1, 2009
Shendure gave an example: "The genetics of thousands of rare diseases remains unsolved because sufficient numbers of families with individuals affected by those disorders are not easily available. Even with such families, mapping and identifying the causative gene can take many years.". From attempts to determine the genetics of cancer, diabetes, and heart disease, scientists now realize that common variations in the human genome account for only a small fraction of the risk of these common... (Science Daily)
Patients from across US take part in study of galactosemia at Children’s Hospital Boston Aug 31, 2009
The study - primarily funded by the patient advocacy group, Parents of Galactosemic Children, and made possible by the willingness of patients to pay their way to Boston - is just one example of the ways in which families and patient groups are driving scientific research on rare diseases ... There are more than 6,000 known rare diseases, defined as those that affect fewer than 200,000 people in the United States. (Boston Globe)
- Our Opinion: The death of a real statesman 0 Aug 30, 2009
Kennedy labored with Hatch on getting federal funding to treat those with AIDS/HIV, on establishing tax breaks for companies developing medications for rare diseases and on setting up a federal health-insurance program for low-income children. Healthcare was one of Kennedy s pet issues, and many are saying had he not been slowed by brain cancer in recent months, Kennedy would have been a major player in Congress finding a civil middle ground on an issue that is tearing our country from limb to... (El Centro Imperial Valley Press, CA)
AP: Sen. Edward Kennedy, 77, Dies After Cancer Battle Aug 28, 2009
Orrin Hatch, the conservative Republican from Utah who was alternately a political partner and opponent of the unapologetic liberal for three decades, said "Ted Kennedy was an iconic, larger than life United States Senator whose influence cannot be overstated." He listed of nearly a dozen bipartisan bills they worked on jointly, including a federally funded program for victims of HIV/AIDS, health insurance for lower-income children and tax breaks to encourage the development of medicine for rare... (Missourian Publishing, MO)
Kennedy called ‘singular figure’ in America’s life Aug 27, 2009
He listed of nearly a dozen bipartisan bills they worked on jointly, including a federally funded program for victims of HIV/AIDS, health insurance for lower-income children and tax breaks to encourage the development of medicine for rare diseases. Kennedy s family announced his death in a brief statement released early Wednesday. (Corvallis Gazette Times, OR)
Shire in partnership with Santaris Pharma Aug 25, 2009
entered into a research collaboration with Santaris Pharma Monday to develop treatments for rare diseases using Santaris Pharma technology. Financial terms of the deal were not disclosed. (Philadelphia Business Journal, PA)
Specialists: Health care reform could intrude on doctor-patient relationship Aug 21, 2009
But specialists who treat complicated and rare diseases say sometimes more care is better care. Certainly we can become more efficient in certain things, and having electronic records and those things has helped, but when it comes down to other parts of care, you really can t cut corners, pediatric neurologist Dr. Pedro Mancias of UT-Houston said. (KHOU.com, TX)
Let the race begin Aug 21, 2009
Meeker defends the price of Cerezyme as a necessity in the business of treating rare diseases. Costs of drugs vary, but the patient pool is always small, often tiny. (Boston Globe)
High five, grandma! Aug 20, 2009
But, they do it better for almost everyone except the few with very rare diseases, there, just as in the USA, only the very wealthy can count on getting that top shelf treatment. So, we are at a crossroads, does the USA, by honoring our belief in free markets, pretend ours is free and full of competition while we actually subsidize the other 29 nations who control healthcare costs. (The Palm Beach Post)
Swine flu shot link to killer nerve disease; Concern over 25 deaths... Aug 16, 2009
It says: Traditionally, the BNSU has monitored rare diseases for long periods of time. However, the swine influenza (H1N1) pandemic has overtaken us and we need every member s involvement with a new BNSU survey of Guillain-Barre Syndrome that will start on August 1 and run for approximately nine months. (The Drudge Report)
Scrubbing up Aug 13, 2009
This means that we can balance the high cost of some medicines, particularly those for rare diseases, against the lower cost for the majority of medicines. Significant hurdles. (BBC News -- Science)
FDA seeks contingency details from Genzyme Aug 13, 2009
which has been struggling with production problems and mounting competition, said in a regulatory filing that the Food and Drug Administration wants the Cambridge biotech to detail steps it is taking to assure the availability of two drugs to treat rare diseases. The company is the only supplier of the drugs Fabrazyme and Myozyme, and the request from the FDA raises the possibility that regulators could revoke Genzyme s so-called orphan drug status, which gives it seven years of exclusivity for... (Boston Globe)
Buckeyes gather for good cause Aug 6, 2009
"CMT disease effects 1 out of every 2,500 people and is considered a rare disease because less than 200,000 people suffer from it in this country. CMT is similar to muscular dystrophy and is an inherited neurological disorder.The event was open to the public and admission was $10 for adults and $5 for students, while special VIP passes were made available for $50. In addition, there was a silent auction with various items up for bid, including autographed memorabilia. Obviously all the proceeds... (Ohio State Sports -- Rivals.com)
Buckeyes Raise Awareness For Rare Disease Aug 6, 2009
The event was put on with the assistance of Uplifting Athletes, a nonprofit organization that aims to aim college football at raising awareness for rare diseases. In all, six colleges have chapters within Uplifting Athletes, and Daniels founded OSUs chapter last season. (Bucknuts.com)
Notebook: Herzlich illness hits Eagles hard Jul 29, 2009
His teammates are planning a "Lift for Life" event in which players perform strength and conditioning drills to help fund research into rare diseases (donations can be made at www. upliftingathletes. (Boston College Sports -- Rivals.com)
Three ACC seniors return for some unfinished business Jul 27, 2009
They launched a chapter of Uplifting Athletes, a national organization that works with college football players to fund research of rare diseases. On Thursday, Boston College's players will hold a strength and conditioning competition that will be open to the public as a fundraiser. (News & Observer -- Sports)
Thrombomodulin Mutations in Atypical Hemolytic–Uremic Syndrome Jul 23, 2009
From the VIB-K.U.Leuven Vesalius Research Center, Leuven (M.D., A.D.V., B.C., D.L., E.M.C.); VIB-University of Antwerp Applied Molecular Genomics Group, Department of Molecular Genetics, Antwerp (J.D.-F.); and VIB BioInformatics Training and Service Facility, Ghent (S.P.) all in Belgium; Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Aldo e Cele Dacc;, Ranica, Bergamo, Italy (M.N., C.Z., G.R.); and the Oklahoma Medical Research Foundation (C.T.E.,... (New England Journal of Medicine)
Genzyme's profit more than doubles Jul 23, 2009
The biotechnology company focuses on treatments for rare diseases, including Myozyme for Pompe disease. The company had been facing supply problems in the United States and Europe but said it is solving the issue. (Boston Globe)
Treatment Of Cystic Fibrosis: Encouraging New Results For Miglustat Jul 23, 2009
Used to treat two rare diseases (Gaucher's disease and Niemann-Pick type C disease), its safety and tolerance had already been assessed, and clinical trials could be rapidly begun in September 2007. In the new study published in American Journal of Respiratory Cell and Molecular Biology, the researchers show that daily treatment of human respiratory cells that are homozygous for the F508del mutation with low concentrations of miglustat leads to progressive, sustained and reversible correction of... (Science Daily)
A child's IQ can be affected by mother's exposure to urban air pollutants Jul 22, 2009
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!)
Painful, but positive, changes for venture funding Jul 19, 2009
Third Rock Ventures, which was founded just two years ago, oversees a $278 million fund and has so far started eight companies, including a protein engineering company called Denovo Therapeutics and a company targeting rare diseases called Edimer Pharmaceuticals. Third Rock Ventures cofounder Kevin Starr estimates that they will fund another seven or eight over the next six to nine months. (Boston Globe)
On point: Marblehead acupuncturist blends East and West Jul 18, 2009
Besides conditions that people generally associate with acupuncture like musculoskeletal pain and fatigue, I have had patients with rare diseases such as sickle cell anemia. I really like the fact that my patients receive personalized health care that allows them to live more comfortably with whatever ailments they may have. (Marblehead Reporter, MA)
New map of genomic variations will enable disease research Jul 16, 2009
"This resource will be very important in enabling rapid and accurate diagnoses of rare diseases resulting from CNVs," said lead author Tamim H. Shaikh, Ph. D., a molecular geneticist at Children's Hospital. (EurekAlert!)
FAIR CEO Blasts Kaiser Foundation & Public Agenda HIV/AIDS Study Results as "Absolute Nonsense" Jul 14, 2009
Darling asks, "Did these studies inform any of those interviewed that our government is spending $2,774 per patient in research on behalf of the one million HIV/AIDS patients while at the same time spending less than $200 on behalf of over 100 million patients with diabetes, cardiovascular disease, Parkinson's disease, Alzheimer's disease, prostate cancer, 6,000 rare diseases or hepatitis C, which kills more AIDS patients than AIDS does? Clearly not.". Darling continued, "Did Kaiser or Public... (Yahoo News -- Press Releases)
Penn State charity gets lift from Buckeyes, others Jul 13, 2009
What started as a weightlifting event six years ago to raise money at Penn State for kidney cancer research has turned into a full-fledged philanthropic organization called "Uplifting Athletes" involving other football programs dedicated to fighting rare diseases. "It's a grueling workout in general," said Brackett, head of Penn State's chapter. (Muscatine Journal, IO)
A Family Tree, a Rare Cancer, and a Hunt for its Cause Jun 27, 2009
The approach holds greater promise for rare diseases like PPB that are likely caused by a. So, armed only with a well-educated guess, Ashley Hill and her team from Washington University Medical Center in St. Louis traveled to Mankato to draw vials of blood from the outstretched arms of Anderson's family. (Scientific American)
Neuropathy Patients, Doctors and Medical Professionals Rally in Sacramento to Demand Access to Lifesaving Medical Treatments Jun 26, 2009
We further ask our Members of Congress to remember, while debating healthcare reform, that all patients, especially those with rare diseases, need access to all therapies prescribed appropriately by their physician and that because every patient is unique, personalized medicine must play a role in diagnosing and treating patients with all diseases. "Every time my neurologist orders a treatment, managed care denies the request, and each time I have to file an appeal to receive the treatment that... (PR Newswire)
Shes 6-foot-6, 480 pounds and still growing Jun 24, 2009
Its one of those rare diseases that just hits you one morning, one night. You wake up and know that something is wrong. (MSNBC -- Health)
Parents bank umbilical cord blood, but doctors question value Jun 24, 2009
Donation helps ensure people who fall ill with rare diseases have access to lifesaving stem cells. The reality is most of the population have not banked their cord blood, so there needs to be a public system, said Jim Corbett, president of ViaCord, another large cord blood bank with 200,000 units banked. (The Pantagraph newspaper)
Genzyme puts the squeeze on developing countries Jun 21, 2009
Should drugs for rare diseases, such as Gaucher disease, be considered essential medicines, making governments responsible for their provision. Latin American court cases have increasingly enforced government provision of essential medicines, regardless of price. (Boston Globe -- Editorial)
How Cerezyme worked for Costa Rican girl Jun 18, 2009
That strategy has helped Genzyme bring in more than $1 billion a year on Cerezyme alone, and to develop an arsenal of similarly expensive drugs for other rare diseases ... "We've chosen a way here that's been consistent across the company, and has met the specific needs and complexities of patients suffering from very rare diseases," he said ... Energized by Genzyme's success, more companies have developed high-tech drugs for other rare diseases. (Boston Globe)
Tourette's most common in white kids, boys Jun 6, 2009
The study, led by the Centers for Disease Control and Prevention, estimates there are about 150,000 U.S. children with Tourette's, below the 200,000 threshold for rare diseases. The researchers also found that. (Northwest Indiana Times)
Rare-disease patients priced out of drugs market Jun 4, 2009
More than 6,000 known rare diseases worldwide ... EU resolution to be passed in June calls for national plans on rare diseases ... The fact remains that rare diseases are still mostly overlooked by pharmaceutical companies because of the small patient population and lack of financial incentives. (CNN -- Health)
Rare diseases guide Jun 3, 2009
Rare diseases: Where to get help - CNN.com ... Rare diseases: Where to get help. (CNN -- International)
* Tobacco surcharge takes effect Jun 1, 2009
The Bureau of National Health Insurance will receive 70 percent of the surcharge revenues and will spend NT$10 billion to meet its financial shortfall, and the rest in various areas such as cancer prevention, raising the standards of medical services and treatment of rare diseases. Meanwhile, the high-season summer rates policy adopted by the Taiwan Power Co (Taipower, xq) will also take effect starting today. (Taipei Times, Taiwan -- Business)
NIH announces new program to develop therapeutics for rare and neglected diseases May 21, 2009
The NIH Office of Rare Diseases Research will oversee the program, and TRND's laboratory operations will be administered by the National Human Genome Research Institute (NHGRI), which also operates the NIH Chemical Genomics Center, a principal collaborator in TRND. Other NIH components will also participate in the initiative ... NIH estimates that more than 6,800 rare diseases afflict more than 25 million Americans ... Unlike rare diseases, however, neglected diseases may be quite common in some... (EurekAlert! -- Business News)
NIH Launches Drug Program for Rare Diseases May 21, 2009
WASHINGTON -(Dow Jones)- The National Institutes of Health is wading into the drug-development process by launching a program aimed at finding and getting new drugs ready for testing in humans with rare diseases ... The program comes with new money from Congress and is aimed at finding new treatments for some of the 6,800 rare diseases that collectively affect about 25 million Americans ... The project, known as Therapeutics for Rare and Neglected Diseases Program, will be overseen by the NIH... (SmartMoney)
Newsweek: Can Tom Frieden fix the CDC? May 20, 2009
Public health first seized his imagination during medical school at Columbia University when he read a classic series of articles by Berton Rouech called The Medical Detectives, in which scientific gumshoes unraveled the mysteries behind rare diseases, poisonings and parasites. "I loved clinical practice," says Frieden, who worked among Dominican populations in Manhattan during med school and speaks fluent Spanish. (MSNBC -- Health)
NORD Sponsors Rare Disease Summit May 15, 2009
The blockbuster model is no longer viable, said Janet Woodcock, MD, director of the Center for Drug Evaluation and Research at FDA. As a result, she said, companies are more willing to consider new options, including more products for rare diseases ... Collins and Woodcock were among several speakers at a Partners in Progress Summit hosted by NORD in Washington, DC. NORD represents the nearly 30 million Americans who have rare diseases, or ones affecting fewer than 200,000 people ... Peter L.... (PR Newswire)
Rare diseases deserve special attention May 1, 2009
Hopefully, participants in the Ottawa event will also take the opportunity to remind MPs that just last year, they unanimously adopted private members motion M-426 that called on the government to "respond specifically to the challenges faced by Canadians with rare diseases and disorders.". Since then, nothing has happened. (Globe and Mail)
Sickle cell treatment developed at LA BioMed approved for Phase 3 clinical trial Apr 28, 2009
Emmaus Medical, Inc. was founded in Torrance, CA in 2000 as a private company to develop new treatments for sickle cell disease and other rare diseases. Emmaus Medical works closely with LA BioMed in developing these treatments. (EurekAlert! -- Business News)
That's one Elle of a smile Apr 19, 2009
The charity that supports children with rare diseases and their families. Macpherson met Cameron Sykes, 10, of Five Dock, who has Hunter syndrome, a genetic disorder that shortens life. (Sydney Morning Herald -- Australia)
Brit officials wrestle with cost of cancer drugs Apr 8, 2009
That means the government is willing to pay to extend lives of those suffering from some rare diseases, but not for more common ones. That criterion offers a built-in protection for the government's limited health budget. (MSNBC -- Health)
Kidman's not-so-urban homestead Mar 28, 2009
Macpherson and Upton Baker are joining forces to raise money for the Shine Foundation, which offers to help families of children suffering from rare diseases. Hopefully The Body will not get lost in Upton Baker's labyrinthine subterranean wardrobe, as guests at previous cocktail soirees have been known to do. (Sydney Morning Herald -- Entertainment)
Two More Octuplets Go Home Mar 28, 2009
Staph Infection Information Resources. Hospital Information Resources. (KWTX.com, TX)
Menlo Park's ChemGenex focuses on rare diseases Mar 18, 2009
ChemGenex focuses on rare diseases - Silicon Valley / San Jose Business Journal ... ChemGenex focuses on rare diseases. (San Jose Business Journal, CA)
Immune-based drug approved in Europe for pediatric cancer patients Mar 11, 2009
Orphan drug status is given to therapeutic agents that target rare diseases as an incentive for pharmaceutical companies to manufacture these agents. "We have been working with this therapy for more than two decades, so getting approval in Europe is a huge milestone for those of us fighting pediatric cancer," says Kleinerman. (EurekAlert! -- Business News)
Still Rules in UA Tournament Mar 1, 2009
It was meant to help raise money and awareness for the fight against rare diseases. Saturday was Global Rare Disease Day. (LionNews.com)
Common front to fight rare ailments Feb 28, 2009
The non-specific symptoms of rare conditions unfamiliar to most doctors led to long delays in diagnosis, said Professor Elliott, whose establishment of the unit 15 years ago determined the prevalence in Australia of some rare diseases - most of which are genetic and first manifest in childhood. Rare diseases, she said, "have been systematically neglected" ... Specialists from around Australia now plan to campaign to "get rare diseases on the map, to make sure there is equitable access to... (Sydney Morning Herald -- Australia)
CheckOrphan Launches iWish to Commemorate Rare Disease Day Feb 28, 2009
Basel, Switzerland (PRWEB) February 28, 2009 -- Today, CheckOrphan is launching one of its flagship features - - in conjunction with Rare Disease Day, February 28, which is an international effort to raise awareness for rare diseases and the needs of people affected by them. To help commemorate this day, iWish is a way for people affected by, or working with, rare diseases to step forward and tell their stories through words and images ... Participants are asked to provide a text of up to 1,000... (Yahoo News -- Press Releases)
Canadians lack confidence in access to cancer medications Feb 25, 2009
" The survey shows that most of the general public is unfamiliar with multiple myeloma. Only 15 per cent correctly identified multiple myeloma as a blood cancer. One third (33%) of Canadians surveyed mistakenly identified multiple myeloma as a type of skin cancer, while 36 per cent admitted to not knowing what it is. But this cancer is all too familiar to patients like Sheila Diprose of Calgary who was diagnosed with multiple myeloma in March of 2007. "It took a while for the diagnosis to sink... (Canada Newswire)
Shire full-year revenue meets forecasts Feb 19, 2009
Shire is pinning hopes on Vyvanse and its human genetic therapy products for rare diseases to drive sales when Israel's Teva Pharmaceutical Industries gets the rights to start selling a generic version of Adderall XR in April. Shire trades on about 14 times forecast 2009 earnings, compared with 10 times for British peer GlaxoSmithKline and about 7 times for AstraZeneca Plc. (International Herald Tribune -- Travel)
Uplifting Athletes Tackling Video Tourney Feb 18, 2009
Penn State chapter looking to help raise awareness for rare diseases with a Feb. 28 event in State College ... This event is being held in part of a worldwide effort to help raise awareness and call attention to the public health issues for those affected by rare diseases ... Penn State Football Uplifting Athletes has a long tradition of supporting those affected by rare diseases through our annual Lift For Life event. (LionNews.com)
Talking NICE around the globe Feb 16, 2009
"In those countries, the relative burden is higher - if a new cancer drug comes in that costs $5,000 per patient and you decide to include the drug, the impact on the overall budget is very large. "For example in Romania, in the top ten most expensive drugs, six or seven are very new drugs for relatively rare diseases such as hepatitis C.. "That money is then missing for treating people with hypertension or diabetes.". (BBC News)
HOME SCHOOLING: Some parents avoid vaccinations Feb 16, 2009
Last year, Arthur Caplan, a University of Pennsylvania ethicist, co-authored an article in the Journal of Law, Medicine and Ethics advising states to get more serious about requiring the vaccination of home-schooled students or risk new outbreaks of formerly rare diseases such as measles or polio. The article has been passed around among home-school advocates as evidence of a conspiracy to force mandatory vaccinations. (USA Today -- News)
No health insurance? Get help here Feb 14, 2009
Get help here - CNN.com. Lack of health insurance is "not a futile situation" says one expert. (CNN -- Health)
Don't call him Dr. House Feb 7, 2009
There are an estimated 6,000 known rare diseases in the world ... He has to be in order to run the trans-agency program, which is jointly organized by the National Human Genome Research Institute, the NIH Office of Rare Diseases and the NIH Clinical Center ... There are an estimated 6,000 rare diseases, which are generally defined as those that affect a small number of people compared to the general population. (CNN -- Health)
