The National Institutes of Health has earmarked $50 million for the research and development of new treatments for rare and neglected diseases.

The funds will go toward collaborating with researchers through a drug discovery and development program called Therapeutics for Rare and Neglected Disease (TRND).

Recently accepted into TRND is Afraxis, a company investigating disease-modifying treatments for Fragile X syndrome.

Rare Disorders

This news offers hope for those affected by Fragile X which, according to the National Organization for Rare Disorders, is only one of approximately 6800 rare diseases.

Combined, these diseases affect nearly 30 million Americans. Most of these people have to fight for proper medical treatment or even an accurate diagnosis.

According to the National Institutes of Health, out of the 7000 known human diseases, only around 300 get attention from the pharmaceutical industry. Part of the reason for such lack of treatment is money.

If the drug companies can’t make billions, they aren’t interested in researching treatments for diseases that are less prevalent because they claim they can’t recover the costs involved in developing a drug for a rare or rarely treated disease.

It is estimated to cost about $1 billion to develop a new drug.

Bridging the Gap

With the creation of the TRND program, researchers who couldn’t develop needed drugs on their own now have the opportunity to be considered for collaboration.

Once accepted into the program, drug development companies will be assisted in making their discoveries ready to pitch to Big Pharma by providing drug development operational support.

According to Afraxis CEO Jay Lichter, TRND helps companies by:

“…advancing programs through that ‘valley of death’ between identification of a promising compound, and clinical stage development when a program becomes more attractive to a big pharma partner.”

Education

With research comes opportunities for education which, in theory, should result in doctors understanding rare diseases that typically are ignored or treated as non-existent.

Fibromyalgia, for example, was originally scoffed at as being a waste basket diagnosis when doctors couldn’t diagnose the real problem.

Sometimes it was a diagnosis given to patients when the doctor didn’t think there was really anything wrong. It was all “in the patient’s head,” according to uneducated doctors that often recommended a mental evaluation for those presenting symptoms.

Those who have received such a diagnosis were torn between relief at finally having a name for the misery they were suffering, and dread of dealing with medical professional as well as family members who wouldn’t take their diagnosis seriously.

More than 20 years later, researchers are looking at possible markers in the blood that may determine the severity of this very real illness. In 2007, Lyrica was the first drug approved by the FDA to treat the illness.

In 2008, Cymbalta was also approved for treating fibromyalgia.

Yet, even with these advances, many doctors still question the existence of fibromyalgia and patients continue to suffer undiagnosed.

The fact that many rare diseases, like fibromyalgia, are complicated with overlapping conditions makes accurate diagnosis and treatment seem even more hopeless.

With time, TRND may help turn rare, under-treated diseases into treatable diseases, offering patients hope that they will be taken seriously and they can get treatment.

By partnering with scientists, non-profit organizations and smaller pharmaceutical companies, TRND may be able to help reduce the cost involved in finding new medications for rare illnesses, making them more appealing to Big Pharma and thus, more available to the people who need them most.

Copyright 2011