PRESS

Pfizer's Viagra Faces FDA Review for Use in Children With Lung Condition

July 27, 2010

NIH Takes On New Role in Fight Against Rare Diseases

July 24, 2010

NORD Testifies Before Senate HELP Committee

July 21, 2010

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Regulatory Flexibility

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EXCLUSIVE: Pfizer plans to move fast on rare disease pacts

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June 15, 2010

THE CHILDREN'S RARE DISEASE NETWORK LAUNCHES VALUABLE INFORMATIONAL BLOG

June 9, 2010

FDA Grants Orphan Drug Status For Cyclodextrin Compound To Treat Fatal Genetic Cholesterol Disease

May 17, 2010

Genetic Sequencing Kit Catches Rare Mutation for TARP Syndrome

May 15, 2010

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AltheaDx and The Nicholas Conor Institute for Pediatric Cancer Research Announce Molecular Diagnostics Collaboration to Improve the Diagnosis and Treatment of Childhood Cancer

April 19, 2010

Cooking with the Genzyme Recipe: New Players Funding Rare Disease Drugs in Boston

April 12, 2010

PhRMA Honors Patient Advocates Ron and Raychel Bartek

March 18, 2010

A Legacy For and Beyond Batten Disease

March 16, 2010

Study opens new avenue for developing treatments for genetic muscle-wasting disease

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Novato's BioMarin finds niche and growing quickly

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First whole genome sequencing of family of 4 reveals new genetic power

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Push to Cure Rare Diseases

March 10, 2010

NIH-Funded Research Study

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March 8, 2010

GENE THERAPY REVERSES EFFECTS OF LETHAL CHILDHOOD MUSCLE DISORDER IN MICE

February 28, 2010

CHI SUPPORTS RESEARCH AND HOPE FOR PATIENTS OF RARE DISEASES

February 25, 2010

RARE DISEASE ADVOCATES UNITE TO TRANSLATE SLOGAN OF GLOBAL GENES PROJECT IN TIME FOR WORLD RARE DISEASE DAY!

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reco® jeans SUPPORTS CHILDREN WITH RARE DISEASES

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MILLIONS AROUND WORLD TO OBSERVE RARE DISEASE DAY ON SUNDAY

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GLOBAL GENES PROJECT TO RAISE AWARENESS FOR MILLIONS OF CHILDREN LIVING WITH RARE DISEASE

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GALAPAGOS TO FOCUS ON RARE DISEASES IN STRATEGIC SHIFT

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THE PATIENT ASCENDANT

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FUTURE OF NEWBORN SCREENING ENVISIONED: PROCEEDINGS NOW VIEWABLE ONLINE

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HUNTING NEWBORN TESTS FOR SUPER-RARE GENE DISEASES

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THE LONELINESS OF FIGHTING A RARE CANCER

January 5, 2010

DONATE GAMES CHARITY CONNECTS COMMUNITIES WORLDWIDE

December 21, 2009

DONATEGAMES TURNS USED VIDEO-GAMES INTO FUNDING FOR MEDICAL RESEARCH TO HELP KIDS

November 25, 2009

CHILDREN'S RARE DISEASE NETWORK RECEIVES LIFE TECHNOLOGIES FOUNDATION GRANT

November 17, 2009

BABY Z CURED OR RARE DISEASE IN 3 DAYS

November 11, 2009

SOCIAL NETWORKING SAVIORS: TWITTER, FACEBOOK USED IN EFFORT TO HELP SAVE A BABY'S LIFE

October 29, 2009

U.S. AND EUROPEAN RARE DISEASE ORGANIZATIONS SIGN STRATEGIC ALLIANCE

October 28, 2009

RARE DISEASE CENTER HOSTS SYMPOSIUM ON NEW STRATEGIES

October 27, 2009

RARE FIND

October 23, 2009

NEW FDA GROUPS FOR RARE, NEGLECTED DISEASES COULD SPEED PATH TO MARKET

October 12, 2009

ARNOLD NATIVE TO RUN ACROSS SAHARA DESERT

August 18, 2009

CAMP SUNDOWN SHINES IN THE BRONX

August 13, 2009

RESEARCHERS IDENTIFY NEW FUNCTION FOR PROTEIN MISSING IN DUCHENNE MUSCULAR DYSTROPHY

August 4, 2009

AMERICANS STRUGGLE TO PAY FOR HEALTHCARE: STUDY

June 22, 2009

DEAL REACHED TO CUT DRUG COSTS

June 20, 2009

ONE GIRL'S HOPE, A NATION'S DILEMMA

June 14, 2009

IN RARE DISEASE, A FAMILIAR PROTEIN DISRUPTS GENE FUNCTION

May 26, 2009

NEW INSTITUTE WILL STUDY RARE DISEASE

May 20, 2009

UNC-DUKE STUDY: IMPAIRED BRAIN PLASTICITY LINKED TO ANGELMAN SYNDROME LEARNING DEFICITS

May 10, 2009

TO MAKE PROGRESS IN RARE CANCERS, PATIENTS MUST LEAD THE WAY

May 9, 2009

MO. VOTES TO ADD 5 DISEASES TO NEWBORN SCREENINGS

May 9, 2009

SIGNATURE GENOMIC LABORATORIES DETECTS CHROMOSOME ABNORMALITIES IN INDIVIDUALS WITH PALLISTER-KILLIAN SYNDROME WITHOUT INVASIVE SKIN BIOPSY

May 7, 2009

MIRACLE FOR MATTHEW

May 5, 2009

SHRINKING BABY MAGGIE AGNEW BAFFLES DOCTORS

May 4, 2009

THE PATIENT ASCENDANT

Insights: A new health care order is emerging, fueled by genetics and information
By Rick Mullin – January 18, 2010

Toward the end of a lunch discussion at the Burrill Personalized Medicine conference in San Francisco late last year, someone suggested that two commercially available cancer drugs be administered as a combination therapy immediately, given the opinion of prominent researchers that they would work better together. The silence that followed was broken by a physician at the table.

"That's not how science works," she said.

End of discussion? Well, a drug company researcher at the table nodded his head in agreement with the doctor. But a patient activist, unimpressed, reminded the group that certain individuals can hire their own scientists to do things differently in support of patients who are unwilling to wait for science-according-to-protocol.

Um ... could you pass the sugar, please?

Yes, things were a little tense at times, but they were also exciting at the fifth annual two-day conference, hosted by Burrill & Co., the venture capital and merchant banking firm. For one thing, everyone was talking about science. For another, the traditional relationship between doctor, patient, and scientist was changing even as we lunched. We were witnessing the ascendance of the patient.

One might expect this dynamic at a conference on personalized medicine, the field of genetics-driven therapies and preventive measures tailored to individuals. But it is not the health care enterprise's focus on personalized treatment and counseling alone that empowers the patient. It is also patients' increased access to information about their personal genomes and the seemingly infinite bank of information on health care, drugs, and science on the Internet.

This convergence seems positive for the most part. Better informed patients ask better questions and can handle more detailed information from doctors. And doctors tend to be more personally involved with patients with whom they can discuss details. Personalized medicine, in turn, will get physicians more involved with the science of developing wellness strategies and therapies for their patients.

One might even anticipate a phoenixlike reemergence of the medical profession from the regulatory and insurance-driven numbers game that for decades has placed a heavier emphasis on the quantity than on the quality of patient interactions. An ironic return to simpler times. But nothing is simple when it comes to changes in the status quo or the science protocol. Free-flowing information makes people nervous.

One parent I spoke with recently told me of an exchange with his son's physician upon learning that the boy has a rare and incurable disease. "The first thing the doctor told me," he said, "was not to go on the Internet. It was almost as if he were afraid we would find something out. Of course, the first thing I did was look on the Internet."

If the information available to patients is increasing, so is the patient's skill at vetting that information. Jonathan Jacoby, the head of the RARE Project (Rare Disease Advocacy Research Education Project), notes that the way people work today has honed their ability to deal with complex information.

"Many patients come from disciplines in which they develop skills and expertise that can be valuable to the clinical process," Jacoby says, pointing to engineers, information technology professionals, and community organizers. Jacoby himself came to the RARE Project with a background in conflict resolution, a useful discipline in patient advocacy.

Describing the risks involved in empowering patients, Jacoby uses a metaphor. "I'd compare patient advocacy to fuel," he says. "If you take fuel and refine it, it can add enormous power. If you don't refine it, it can destroy the engine. If you waste it, you destroy the environment."

Clearly, something must be done with this energy. And it is in the arena of personalized medicine—Jacoby would argue primarily for cancer—that much of the refining is happening via collaborative engagement and education.

The quiet guest at the lunch table—the industry researcher—will bear much of the brunt of health care change as new routes to cures circumvent the now rather dry and creaky big pharma pipeline. Collaborations with academia and biotech firms are paving the way to collaborations between big drug companies themselves, much of it directed at genetic or other biotechnology-based therapies in the field of personalized medicine. And fuel for these collaborations will come in no small part from patient advocacy groups such as Stand Up to Cancer, an entertainment industry initiative launched by cancer survivors to raise cancer awareness and money for research (C&EN, Nov. 3, 2008, page 16).

Such groups, which also include the Michael J. Fox Foundation for Parkinson's Research and the Multiple Myeloma Research Foundation, have clout. They are the voice of the patient. What matters most, however, is the individual patient, the consumer whom Jacoby describes as the traditional source of money to the health care enterprise. That description seems cold, but money is not a bad thing when combined with information and the ability to use it.

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