NIH Rare Disease Day: Research Brings Hope

By Shazia Ahmad, Director, Patient & Physician Services, United Biosource

Each year since 2009, the National Institutes of Health (NIH) Clinical Center and National Center for Advancing Translational Sciences (NCATS) has hosted Rare Disease Day at the NIH to participate in the global observance. The theme this year was Research.  Earlier this month, I attended the event and heard several inspiring presentations from a range of rare disease stakeholders. Dr. Christopher Austin, Director of NCATS, introduced the tone for the day with his statement, “This is a special day that we look forward to because of the community it brings together− scientists, physicians, regulators, policy makers, members of congress and most importantly the patients we serve”.   Dr. Francis Collins, Director of the NIH, reflected on the gene discovered for cystic fibrosis in 1989.  Because of the combination of basic science, patient advocates and the private sector, some 90% of patients with cystic fibrosis may now have the opportunity of a highly effective drug therapy just from the molecular understanding of the disease.  Dr. Collins remarks motivated the audience, “If we are going to reach the goal of 1000 therapies for 2027 we can apply what was done for CF also for rare diseases without taking so many years. We have to think bigger before taking 30 years to get there”.

As I listened to updates from stakeholders regarding their achievements and current initiatives, I found that it evident that the collaboration of patients and researchers is critical to continue to make advancements in rare disease treatment.