NORD Urges Senate to Act on Health Care Reform

On behalf of the nearly 30 million Americans with rare diseases, NORD today sent a letter to Senate Majority Leader Harry Reid, and copied all members of the Senate, urging passage of the Patient Protection and Affordable Care Act.

Mystery Diagnosis to Feature Parry Romberg Syndrome

An episode of the Mystery Diagnosis TV show airing this week will tell the story of a young woman with the rare disorder known as Parry Romberg syndrome. This disorder is characterized by slowly progressive degeneration of the soft tissues of the face. In most cases, the syndrome appears to occur randomly for unknown reasons. Check your local TV listings for times and dates.

Official U.S. Rare Disease Day Website to Launch Soon

As the sponsor of Rare Disease Day in the U.S., NORD has created a website where activities and events for Rare Disease Day 2010 will be posted. Watch for the launch of this new site soon.

Rare Disease Day Story Leads to Mystery Diagnosis Episode

For Rare Disease Day last year, Martha Bryce shared her story with NORD in the hope that it might help others with similar symptoms. Martha has a condition known as "swallowing syncope" that caused her to become lightheaded or even black out when she swallowed food. NORD gave the story to the producers of Discovery Health's Mystery Diagnosis TV show, and now Martha's story will be featured on Nov. 16. Watch for it in your local TV listings.

NORD To Host Corporate Council Meeting on Nov. 11

The NORD Corporate Council will meet in Washington DC on Wednesday, Nov. 11. The Corporate Council is a group of approximately 50 pharmaceutical and biotechnology companies developing treatments for rare diseases. For information about joining the Corporate Council, contact Michael Langan at mlangan@rarediseases.org. Details about the upcoming meeting for members.

NORD and FDA Host Podcast on New Regulations

NORD and the FDA hosted a one-hour podcast on Oct. 16 on FDA's new rules regarding patient access to investigational drugs. Read about the new FDA regulations. Download podcast (mp3, 12mb).

Early Access Program Being Implemented for Fabry Drug

FDA has approved a treatment protocol for Replagal, an investigational product for Fabry disease, to be made available through an early access program. The only approved drug for Fabry, Fabrazyme, is currently in short supply. Information about the early access program is available from Replagal's manufacturer, Shire, at (866) 888-0660.

NORD & Idis Host Media Briefing on Expanded Access Programs

NORD and Idis, a company that---like NORD---provides and manages Expanded Access Programs, co-hosted a media briefing in Washington, DC, recently on "Patient Access to Investigational Drugs". Speakers from the Food and Drug Administration (FDA), patient organizations, and industry, as well as a bioethicist, talked about when and how patients should be given access to drugs not yet approved by FDA for their diseases.

Panelists Patricia Furlong of Parent Project Muscular Dystrophy; Emil Kakkis, MD, PhD, of the Kakkis Everylife Foundation; and bioethicist Lee Zwanziger, PhD, are shown with Idis CEO Natalie Douglas and NORD President and CEO Peter L. Saltonstall.

NORD's Washington Office Has a New Location

NORD's Washington Office is now located in the Carnegie Endowment for International Peace Building at 1779 Massachusetts Ave., NW (phone: 202.588.5700). Details.

NIH Announces Major Funding for Rare Disease Research

The National Institutes of Health today (Oct. 5) announced a second phase of funding for the Rare Diseases Clinical Research Network (RDCRN). Funds totaling more than $117 million will be distributed over the next five years to 19 research consortia and a Data Management Coordinating Center. Launched originally in 2003, the RDCRN addresses rare diseases as a group and supports studies related to natural history, epidemiology, diagnosis, and treatment of rare diseases. The RDCRN was authorized in legislation known as the Rare Diseases Act of 2002, which NORD helped initiate. Sponsors of the legislation were Senators Edward Kennedy (D-MA) and Orrin Hatch (R-UT) and Representatives Henry Waxman (D-CA) and John Shimkus (R-IL). Details.

NORD and EURORDIS Sign Strategic Alliance

NORD and its European counterpart, EURORDIS, have signed a Memorandum of Understanding to join forces on several key initiatives on behalf of rare disease patients and their families. The partnership will include shared sponsorship of an online patient community, global Rare Disease Day, and other advocacy and educational priorities. Read the press release.

NORD Helps Kick Off National Family Caregivers Month

NORD is pleased to be an official endorsing organization of National Family Caregivers (NFC) Month, an annual event created by the National Family Caregivers Association to bring attention to the needs of family caregivers. NFC Month, celebrated every November, is a nationally recognized time to thank, support, educate and empower more than 50 million family caregivers across the country currently providing over $375 billion in "free" care-giving services.

In honor of NFC Month, the National Family Caregivers Association will be hosting a free Teleclass/Webinar entitled Safe & Sound: How to Prevent Medication Mishaps on November 12 at 2:00 – 3:00pm EST. Register here, call 800-896-3650 or visit www.thefamilycaregiver.org for more information.

Partners in Progress Summit Summary Now Available

In May, NORD hosted a Summit in Washington DC at which more than 300 representatives of patient organizations, government and industry discussed next steps for facilitating innovative research and patient access to orphan products. A summary of that day-long forum is now available. Contact NORD to obtain a copy, or read the online version details. View NORD's video.

View Summit presentations.

Transcript of the Summit's morning presentations and discussion

Transcript of the Summit's afternoon presentations and discussion

NORD Urges Action on Health Care Reform

In letters to Congress and to President Obama, NORD has voiced its support for health care reform that prohibits insurance companies from denying coverage as a result of pre-existing conditions, eliminates annual or lifetime insurance caps, and includes tax credits and other direct financing support to ensure that all can afford coverage. To learn more about health care reform, go to www.healthreform.gov

Rare Disease Day Research Hall of Fame

Laird Jackson, MD, had been searching for the illusive Cornelia de Lange syndrome gene for more than two decades when he heard about Ian Krantz, MD, at the Children's Hospital of Philadelphia. Read about Drs. Jackson and Krantz, and the other outstanding scientists nominated to the 2009 Rare Disease Day Research Hall of Fame.

We Salute Our Rare Disease Day Partners!

More than 220 organizations, agencies, and companies signed on as Rare Disease Day Partners to promote awareness of rare diseases as a public health issue for World Rare Disease Day on Feb. 28th. They did a fantastic job, and we extend our heartfelt gratitude to them!

Through their efforts, awareness was raised across the nation via special events, letters to the editor, videos, news stories, and state proclamations.

View list of Rare Disease Day Partners here.

(How to become a Partner).

View NORD's 25th Anniversary Gala video