In my role as NORD’s research grant program administrator, I’m in the unique position to frequently speak with many researchers. Whether they are applying for one of our scientific seed grants (“RFPs”), or asking if NORD has funding to study a particular rare condition – these conversations are always positive, always punctuated with enthusiasm.
The commitment that these scientists have for their research – and even more specifically — for the welfare of the affected patients, often goes unnoticed in the public eye.
I was recently reminded of this during a phone call that I received last week.
A researcher called, inquiring about one of our current RFPs. The particular rare disease is the entire focus of his research. His only significant funding comes directly to him from parents of affected children. And because it is such a rare condition, the funding is also… rare.
He was thrilled to learn about NORD’s grant for this disorder! His passion about the genetic work that he’s been undertaking for this condition came through so very clearly, yet in a most open, gentle and humble way.
This particular rare disease is not well-known, has been minimally researched — and often has a dire outcome. But no negativity or sense of frustration came through during our discussion. There was simply joy on his part – some funding for his research could be available to him!
After speaking with this MD/PhD, a faculty-member from a well-known medical research institution in the US, as we were about to end the phone call — something compelled me to ask him, “How did you become so dedicated to this particular disorder?”
His answer –
“It’s a terrible condition. Someone has to care about it!”
That fierce loyalty and sense of mission that simply cannot be driven down — despite so many roadblocks — is really something to behold.
Coincidentally, the following day an online article appeared in The Scientist Magazine, which practically echoed the previous day’s phone call. This “Bench to Bedside” article is about a Canadian medical team whose research, begun 18 years ago, has now directly led to the recent approval of the first orphan drug for a rare condition called “short bowel syndrome.”
Dr. Daniel Drucker, one of the senior investigators at Mount Sinai’s Samuel Lunenfeld Research Institute in Toronto, Canada, stated the following, “The feeling that our work was fundamental to
the development of a drug that will help thousands, however rare this patient population, is pretty special.”
On a related but separate note, NORD learned yesterday of the unexpected passing of the beloved Chair of our Medical Advisory Committee, Sami Said, MD. Our hearts are very heavy at NORD right now.
Dr. Said (known to us at NORD as “Sami”) served as Chair of NORD’s MAC for the past 13 years, with a commitment to the entire rare disease community that never wavered.
In 2006, Dr. Said received the exceptional title of “Distinguished Professor of the State University of New York,” in addition to many other honors and accolades. He was an expert on pulmonary arterial hypertension, pursuing a line of study for this devastating disease for more than 40 years. We believe that he would have continued his research for another 40 years – had he been given the chance. Dr. Said was a humble, gentle, brilliant, funny — and above all else –remarkably wise researcher and humanitarian.
Dr. Said was part of our NORD family, and we deeply, tearfully mourn his passing.
RIP, Dr. Sami Said.
It’s comforting to remember that there is a huge group of behind-the-scenes scientists — men and women — relentless in their dedication to rare disease research. Eight years of administering NORD’s research grant program has taught this to me. We applaud these researchers as they forge ahead, without fanfare.
They really do care!
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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