On Friday afternoon we met with Tom Eggerman, MD PhD, Program Director of the Division of Diabetes, Endocrine, and Metabolic Disease at the NIH. Our goal was to be better informed about the workings of the NIH and the way in which they secure funding for research. He advised us that the best way to get financial support is through Congress. As an example he noted that funding for Type 1 diabetes research is mandated by Congress. He recommended that we take this approach, either by contacting our own congressperson or those who serve on a specific committee. With a mandate to fund research related to MSUD, the NIH could then put out a request for proposals (RFP). He noted during our meeting that for the first time the FDA has approved gene therapy for leukemia. He noted that there is currently no research specific to MSUD in their rare disease portfolio. We were pleased and felt our time with him was well spent.
After our meeting with Dr. Eggerman we convened for our board meeting, which we continued the next day. Our first order of business was the election of officers. The following officers were elected:
- President: Ivan Martin
- Vice President: Sandy Bulcher
- Treasurer: Dave Bulcher
- Secretary: Karen Dolins
The remainder of the meeting focused primarily on two areas: finalizing a business plan and developing a patient registry.
A clearly conceived business plan is essential to moving our organization forward. Our business plan identifies 4 broad goals:
- To connect with families and professionals
- To promote research
- To engage in advocacy
- To develop a fundraising plan which will allow us to achieve our goals
Development of a patient registry is an important step in promoting research for MSUD. The board decided to partner with Emory University and their NBS Connect which has developed a registry. Sandy Bulcher and Karen Dolins will be meeting with Dr. Rani Singh who spearheads this effort at Emory to finalize the details. Please see the article on page 16 which further describes the Registry.
Thank you for your continued support and don’t forget to mark your calendars for the next Symposium in Pittsburg, Pa. on June 28th thru the 30th 2018. I hope to see you there!