Significant Science

It is ten minutes after five in the morning here in Bethesda, Maryland. I am attending the 2010 Annual Conference of the Genetic Alliance.

I am incredibly impressed with the caliber of the speakers and attendees. It is really a privilege to get to meet and mingle with those in the genetics, rare disease and advocacy communities.

I came to give a talk on Web site design and had as a slide what I called, “The Perfect Grant Announcement” given that it had everything that those looking for funding in research like to see immediately. To wit, the amount of the award, the deadline for applications, the purpose of the grant, in this case, “The organization is currently soliciting grant applications for funding of research projects focused on the pathophysiology or treatment of Erdheim-Chester Disease.” I had rushed to enter the announcement on ScanGrants.

And it was such a delight during my talk to have the very person responsible for offering the grant pipe up, “Oh, that is ours” said Kathy Brewer ECD Global Alliance, President.

Please tweet and blog about that opportunity. It is not often that $50,000 is on offer (note the application deadline of August 11, 2010) for research on a fascinating medical mystery.

This is the kind of interaction that happens at the Genetic Alliance Annual Conference. Here we have dedicated people at a foundation devoting themselves to helping researchers prevent or cure disease and doing all they can to reach out to scientists and physician researchers.

And it is not only in the actual sessions that one meets people doing important work. In the hall I met Janet Braga who is the project manager for the upcoming national conference, Genetic Diseases of Children: Advancing Research & Care, which I immediately entered into ResearchRaven when I got back to my room as it is just the kind of gathering that we like to feature on ResearchRaven (and please feel me to send me details of any similar meetings you are holding for possible listing on it): an announcement of a medical meeting on an important topic that encompasses so many issues: child health, public health, genetics, screening tests, preventive medicine. I often spend many hours working in relative silence on ScanGrants and ResearchRaven and it has been a heartwarming experience to actually meet people like Kathy and Janet, both of whom are employing their talents to bring together researchers for the betterment of humanity and the advancement of medical researchers. Not a bad way to spend one’s life.

And I got to meet chat with two men with whom I will speak in a session later this morning (maybe I will be able to get back to sleep after posting this and so not be a total wreck by the time we present) called Science 2.0, Medicine 2.0, Health 2.0, and Open Science: The Revolution is Now.

I had met Robert Shelton, the founder and CEO of Private Access, before and have long been impressed by his prescience and vision in perfecting software products that manage the difficult feat of ensuring patient privacy while facilitating the research process. It is indeed almost uncanny that Private Access has in place a suite of tools that is so well suited to the Obama administration’s emphasis on ensuring patient privacy and security of health information.

I learned about that initiative by chatting with my fellow presenter in the Science 2.0 session, Brent Gendleman, President and CEO of 5AM Solutions, Inc. (and how appropriate that I am writing about him at just about that time of day!). He seems to me to possess many of the qualities I like in Robert. They are both entrepreneurs but not simply out to make a buck but to employ their technical and managerial skills to truly make the research process more efficient and thereby save time and money—admirable goals. And the blog of 5AM Solutions is that rarity—a corporate blog that is actually interesting, thoughtful and well written and indeed rather moving.

For example, in one post Gendleman discourses on matters that mesh with much of what is being stressed at the Genetic Alliance Conference:

* we are discovering more about how genes relate to disease

* we are able to produce volumes of data dramatically faster and cheaper than even wildly imagined 10 years ago

* we are not equipped to understand, interpret and apply knowledge from the data explosion as effectively as we would like.

I am very privileged to have gotten the chance to meet such a variety of people here at the conference. Kudos to Sharon Terry, President and CEO of the Genetic Alliance, for organizing this remarkable gathering. One aspect of it that I find particularly inspiring is the esprit de corps of the Genetic Alliance staff. Rarely does one come across such a uniformly friendly, capable, endlessly patient, talented group of people so solicitous of the needs of conference attendees. Talk about gracious hospitality galore. Terry sets the tone and if I had a son or daughter studying the health sciences I would say, “Go try to get an internship at the Genetic Alliance! You will be mentored and nurtured by some of the most effective health policy advocates and experts in the world. Go, for it!” Terry herself could not be a better role model of accomplishment and impact.

Finally, I was able to participate in Genetics Day on the Hill and visited congressional offices with a group of my fellow northwesterners to discuss genetic testing oversight, public access to federally-funded research results, and public engagement in clinical research. As an Oregonian, I was proud of the quality of the aides we met with in the offices of Senators Ron Wyden and Jeff Merkley and Representatives Kurt Schrader and David Wu. The staffers were polite, well versed in the issues, listened to what we had to say, took careful notes and were altogether personable and likable and I am grateful to the Genetic Alliance for making me feel that public servants are not scoundrels of the rankest sort but decent people dedicated to policy making in the public interest. And I certainly learned a lot from the others in my group who included Liz Horn, the director of the Genetic Alliance BioBank, Susan Trinidad, a bioethicist from the University of Washington, and Dean & Teryn Suhr of the MLD Foundation.

It is amazing how much medical research is funded by foundations created by the family members of those with serious conditions and I was very impressed by the dedication and knowledge of the Suhrs on the range of issues covered at this conference. They, like many others in the disease advocacy community, sang the praises of the Genetic Alliance and I can very see why, given what a range of expertise it offers to those interested in matters of rare disorders, public policy on matters of patient privacy, health technologies, bioethics, genetic matters and a host of related issues. It functions as a clearinghouse, think tank, training ground for bright young minds in the health sciences, and skillful crafter of strategies for advancing medical research in a reasoned, calm and persuasive fashion.  And runs a biobank and…

I loved someone with ALS who died recently. I am very grateful that there are people like Sharon Terry in the world who manage to be both personally charming and tireless in fighting the good fight for better ways to get things done in the world of medical research. I am so glad I came to this conference. And as I have yet to proofread this post, I don’t think I am going to get that last bit of sleep in before heading off for another day of it.