The Children’s Rare Disease Network was fortunate to be included in the first formal meeting organized by the new head of NIH, Dr. Francis Collins and his team. Allison Young, Founding Member and Legal Council, represented CRDN for these discussions, and reports below.  https://videocast.nih.gov/ram/constituents090909.ram
Dr. Collins provided insight into how he perceives NIH should focus its attentions, and specifically on 5 areas that he sees as opportunities for NIH to help improve the quality of health and patients’ lives and forward the mission of NIH and it’s 27 Institutes.
At the outset, he wanted to reassure the community that he is committed to having NIH focus, once again, on truly supporting Investigator-Initiated Research. Over the years from ’03-’08, as an example, you had only a 1 in 5 chance of getting any funding, NIH support was focused on “Big Science”, and individual investigators were expected to have already done their experiments prior to submitting grant applications. Dr. Collins said that would no longer be the case and that significant attention would be given to supporting individual investigators. Dr. Collins also noted that for every $1 NIH awards, $2 are generated in the economy within the first year and each grant NIH awards creates, on average, 7 jobs. In response to some questions/statements from the audience about compelling grant proposals that were not given an award, Dr. Collins also pointed out that when it issued the call for Challenge Grant proposals, it expected to receive between 2 and 3 thousand; they received over 21,000 proposals, meaning the money NIH had for Challenge Grant Awards was used up by 3% of all the proposals received.
Before I lay out the themes he identified, I want to make sure to pass along this email address to you. NIH has created a specific email that Dr. Collins wants comments or questions or areas of concern from the community to be sent to, and he promises that he, and/or the Directors of all 27 NIH Institutes (where appropriate) will, at a minimum, read them and endeavor to do their best to provide at least some sort of substantive response to the sender. That site is NIH-LISTENS@nih.gov.
Another new tool NIH now provides via its website is called RePORT. You can use this database to see what NIH is funding and supporting. You can query in a variety of methods, including funding mechanism, Award Type, NIH Institution, all the way down to the individual grant.
The 5 areas of opportunity (one-two in particular are exceptionally relevant for us and our community), where NIH is making a commitment to the constituents:
1. Genomics. Obviously, as the former head of the Humane Genome Project, Dr. Collins understands the incredible importance in supporting and promoting research and developments in the area of genetics, including personalized medicine. He noted that supporting research into rare genetic disorders often has much broader implications. As an example, he noted certain projects such as the Human Microbiome Project and a project to map the various already identified cancer tumors in ovarian and brain tumors to create a catalog of all the genetic anomolies found in these tumors to better under and identify them and eventually craft diagnostics and therapeutics to the underlying genetic compositions. In this discussion (and for the point below) he made special note of the role of rare diseases and discoveries and advancements in rare (and particularly rare genetic) diseases for other diseases on the whole (I think we should send the story of the Hempel Children and the cyclodextrin example to the NIH-LISTENS website to meet one of his assistance requests – more on that below).
2. Translational Agenda. NIH has traditionally been dedicated on the basic scientific research side, but there is a commitment to be see this research and findings regarding diseases and these discoveries turned into actual therapeutics. In this, Dr. Collins discussed the TRND Program (The Rare and Neglected Diseases)…whereby NIH will partner with private companies to see research, particularly related to rare diseases, and whereby such companies need financial support/partners to turn these discoveries into therapeutics, actually translated in applications. In particular, he mentioned biologics, stem cell technology, gene therapy, IPS cells used to create therapeutics,etc. I believe this is an area that would be of importance to our community, and where if some of our diseases/families feel they are at a breakthrough where they could use additional dollars to turn research into treatments, they could apply to the TRND program.
***NOTE: Dr. Collins did not address this in his speech, but I want to interject and point out another NIH tool related to Rare Diseases that I found while poking around the NIH website. If you go to https://rarediseases.info.nih.gov/GARD/, this will take you to the home page of the Genetic and Rare Disease (GARD) Information Center, which is comprised of 2 NIH agencies, the Office of Rare Disease Research (ORDR) and the National Institute of Human Genome Research (NHGRI). In particular, through the GARD agency, they have a program for undiagnosed conditions, known as the Undiagnosed Disease Program: https://rarediseases..info.nih.gov/Resources.aspx?PageID=31.
3. Health Care Reform. NIH believes that one way to help with the issue of health care reform is through comparative/effectiveness research, in particular, also supporting research into alternative treatments, and/or current treatments for other conditions not traditionally treated with such. NIH plans to support pharmacogenomics and Personalized Medicine, social/behavior research (i.e., patient compliance, acceptance of alternative forms of treatment), and health care ecomonics, for example via creation of payment incentive models.
4. Global Health. NIH believes that research and information on third world diseases have application on a greater scale for other therapeutics, and plans to work more with organizations such as WHO and the Gates Foundation on global health issues.
5. Empower the Biomedical Research Community. NIH strongly believes that we must organically grow our talent in the biomedical fields, and help invigorate and encourage people to pursue careers in the field.
Dr. Collins also noted that he is commited to funding research that doesn’t fit precisely into an institution so that those areas of research don’t fall through the cracks. They have created a number of awards programs to target those areas, such as for Pioneer awards, Innovator awards, Transformers NO1 awards, etc.
He also noted that NIH received $10B from ARRA (the recovery act), another $10B in general funds and $400M for comparative/effectiveness research.. Dr. Collins claims his #1 priority is getting grants funded.
Dr. Collins also asked the community to help NIH. The key areas he wants to get feedback/assistance on are:
1. How to create a unified voice to support, and explain, the importance of medical research, and translational research
2. New ways to describe NIH’s research and what NIH is doing/achieving
3. How to keep communication channels open between NIH and the constituents
Allison Young
Children’s Rare Disease Network

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