At the Rare Disease Day 2019 symposium held at the National Institutes of Health (NIH), numerous speakers took the stage to share their knowledge about managing and/or advocating for rare disease patients. One of the highlights of the day however, was from a speaker with no slides and no data. He did however, provide plenty of inspiration and insights. Francis Collins, MD, PhD, head of the NIH spoke for about 15 minutes about rare disease day and provided an overview of some of the work being done for rare diseases at NIH, including a rare disease of particular interest to the NIH Director.

Dr. Collins began his talk by acknowledging that Rare Diseases are more relevant that ever with all of NIH’s 27 institutes and centers having some investment in rare disease research.

Dr. Collins also noted that rare diseases are often the way he introduces emerging treatment. “One that I talk about a lot right now is sickle cell disease. Sickle cell may not be as rare as many of the conditions that you all represent, but still, only 100,000 people in this country. You are going to see in the next few months increasing number of reports where genetic therapy applied to this molecular disease first described more than 100 years ago,” said Dr. Collins, added, “I’m really excited about that because the approach that was taken there is one of those which can fit other diseases as well. A genetic approach. When we see that happening for sickly cell disease, or for spinal atrophy, and maybe soon for muscular dystrophy. The excitement of having that kind of outcome cannot be overstated.”

A NIH program that Dr. Collins is particular excited about is the Common Fund that is a unique resource which functions as venture capital space to support high-risk, innovative endeavors. Among those programs is the Somatic Cell Gene Editing Program that Dr. Collins noted could be particularly applicable to many rare genetic conditions. “If you have a genetic disorder and you know it affects the liver or brain or the muscles, and you have a means of delivering very efficiently this apparatus with the corrected opportunity to fix that misspelling (aka, genetic mutation) that seems like something that could be scalable.”

Dr. Colling concluded his talk with an update on a disease that is close to his heart – Hutchinson-Gilford progeria syndrome. Progeria is a rare, fatal genetic condition characterized by accelerated aging in children.

“I had the chance to take care of a patient with progeria way back in the 1980s when I was a fellow in training.” That patient was Meg Casey. “Meg single-handedly rendered her little town of Milford Connecticut, accessible to anybody with a disability. Long before the Americans with Disabilities Act there was Meg Casey. And she made sure that there was no establishment that could not be accessed by people with limitations. She was all of about 3 feet tall but she cursed like a sailor and you didn’t want to mess with her.”

Fifteen years later, progeria entered Dr. Collins life again when he met a young emergency room physician named Scott Burns at a DC reception. Dr. Burns told Dr. Collins about his young son with progeria – Sam Burns – and how he and his wife, Dr. Leslie Gordon wanted to learn more about the condition.
Soon thereafter, Dr. Collins assigned a post-doc to look into the genetics of progeria and “with a combination of energy and serendipity and a really good postdoc, within the space of a year, we discovered that progeria was due to a single letter in the DNA code that was misspelled,” noted Dr. Collins. “The parents DNA were normal but every child we looked at that had progeria had this particular letter that should have been a C and it was a T.”

Once that mutation was found, it became much easier to look for therapeutic options. One treatment option currently being investigated is a drug that was previously being developed for cancer (lonafarnib). And while the drug is not a cure, Dr. Collins noted that it is clear that the drug has greatly extended the lifespan of progeria children.

Much of those trials are being led by the Progeria Research Foundation (founded by Drs. Gordon and Burns). Dr. Collins noted that the NIH is working closely with the Progeria Research Foundation, along with biotech companies like Sarepta Therapeutics, to find more treatment options. The NIH is also working with the Broad Institute in the area of gene editing.

Dr. Collins noted all of this happened over the course of about 15 years and in a large part it began as a result of parents and advocates telling their stories. Which is what Rare Disease Day is all about.

Dr. Collins ended his presentation with the secret to a happy life – according to the late Sam Burns who passed away in 2014 at the age of 17.
Sam Burns’ philosophy for a happy life is:
1. Be ok with what you ultimately can’t do because there is so much that you can do
2. Surround yourself with people you want to be around
3. Keep moving forward
4. Never miss a party if can help it.