Support Grows for Patients With Rare Diseases

There is strength in numbers when it comes to rare diseases, and that fact has led to recognition of Rare Disease Day every February 28 since 2008.ail

The occasion is marked by patient and medical organizations in 2013 under the banner of “Rare Disorders Without Borders.”

Rare diseases strike only tiny percentages of the population: 1 person in 2,000 or maybe even 1 in 5,000. That’s a small number of a people in one city or country, but worldwide, tens of millions of people suffer from more than 7,000 unusual diseases, usually genetic in nature.

Until recently, these people and their families bore their conditions alone and were sometimes even shunned by communities. But in 2008, EURODIS, a patient organization alliance reaching 51 countries, began Rare Disease Day to focus greater attention on both the social and medical needs of this population. People in 63 countries were involved in events in 2012.

This year, the U.S. National Institutes of Health (NIH) held a two-day conference February 28 and March 1 to raise awareness about the issues, to encourage research collaborations and to focus attention on new initiatives in the area of rare diseases.

“Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient,” NIH reported in its announcement about the event. “People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden and lack of support services for the patient and family.”

U.S. action to improve its response to the needs of these patients dates back to 1983 with passage of the Orphan Drug Act. The law created incentives for pharmaceutical companies to develop cures and treatments for rare conditions, even though the number of potential consumers for those products might be small.

Activists were instrumental in passage of that legislation, and after that successful campaign they created the National Organization for Rare Disorders (NORD), celebrating its 30th anniversary this year.

In the decade before the law was passed, NORD reports, only 10 new drugs were developed by industry for people with rare diseases. Since 1983, more than 2,700 potential treatments have entered the research pipeline and more than 400 have been approved by the U.S. Food and Drug Administration.

The U.S. government supports ongoing research into rare diseases and possible treatments at the Office of Rare Diseases Research (ORDR) at the National Institutes of Health. The office works to support and coordinate the work of researchers and to provide information about these conditions, a critical function in view of their rarity.

NIH is also working to accelerate rare disease therapies through the drug development process, which is usually long, complicated and expensive. The Therapeutics for Rare and Neglected Diseases program stimulates drug discovery and research collaborations by tapping into the expertise of all sectors — science, nonprofit organizations and pharmaceutical companies. The office strives to overcome the risks and high costs that complicate drug development and bridge the gap between a basic research discovery and testing a new drug in humans.

NIH also maintains a Genetic and Rare Diseases Information Center to help patients and the public better understand these conditions.

Source: Philadelphia News

1 thought on “Support Grows for Patients With Rare Diseases

  1. Pingback: What can we do? | elspethc

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