Friday, April 19, 2013

Francis S. Collins, MD, PhD, Director of NIH speaks at Children’s National to kickoff Children’s Research and Education Week

Francis S. Collins, MD, PhD, the Director of the National Institutes of Health (NIH) visited Children’s National to speak to a packed room of nurses, physicians, faculty, and staff in honor of Children’s Research and Education Week 2013. Dr. Collins began his talk with the mission of the NIH: “to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce the burdens of illness and disability.”

During the talk, Dr. Collins highlighted several of his institutes’ advancements, noting that they have gained exponential knowledge – on the molecular level, going from a few dozen known disease specific genes, to a few thousand. He also outlined President Obama’s new BRAIN (Brain Research through Advancing Innovative Neurotechnologies) Initiative, which aims to map out complex neural circuits using real time imaging technology, and determine how individual brain cells interact.  The program will provide scientists with a better understanding of human behavior and brain development, as well as a clearer picture of common neurological diseases.

Additionally, Dr. Collins addressed the many challenges and bottle necks in the research industry, particularly the lengthy and costly timeline of device development and innovation. Nowhere is this more clear than in the development of treatments and devices for children, a real siloed market, and the subject of an upcoming Sheikh Zayed Institute Symposium.  He reminded the audience about the costliness of successful developments, a major hurdle to overcome.

To help identify those bottlenecks and challenges, the NIH has created the National Center for Advancing Translational Sciences (NCATS) which will – according to their website – “[create] entirely new ways to make the therapeutic development process faster, cheaper, and more accurate.” An example of the work that has come out of NCATS already is a biochip with cells that represent ten different human organs wired with output to give feedback as to the “happiness” or “unhappiness” of the cell after a treatment has been applied, post medicine. Progress made so far has taken less than a year, remarkable progress in such short a time.

The NIH Director also discussed his own work on a pediatric health challenge-- Dr. Collins has worked extensively to understand the genetic mechanisms of a rare childhood disease--Hutchinson-Gilford progeria syndrome – or, progeria which doesn’t appear in children at birth, but begins to show in the first few years of life. Despite normal mental development, the children stop growing, develop orthopaedic problems, and eventually die around age twelve or thirteen of heart attack or stroke.  Unfortunately, progeria is not an inherited condition, making it impossible to predict which child might develop it, and because the life expectancy is so short, studying clinical cases is extremely challenging. Despite this, Dr. Collins’ team discovered the gene mutation that triggers onset of disease (lamin A mutation), and has created preclinical models to study the disease in depth. His passion for pediatrics shined through as he spoke about it—and it is a passion that he shares with the faculty and staff at Children’s National.

The presentation ended with a brief Q & A where a woman tearfully thanked Francis Collins for his work and leadership, as she struggled with another disease that has seen the positive impacts of genetic study—cystic fibrosis. Since its identification, treatments have improved significantly, resulting in her health today. Her story reminded us all that “no matter how long it takes to develop advances in medicine, [it’s worth it to hear that ‘thank you’ from the person affected, even if it’s years later].”

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