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Perspectives on Rare Disease Research – An interview with Dr. Tiina Urv, the ORDR Program Director for the RDCRN

January 4 2018

Dr. Sahin: How has your past career prepared you for this position?

Dr. Urv: Prior to coming to the NIH, I worked first at the New York State Institute for Basic Research in Developmental Disabilities (IBR), and at the University of Massachusetts Medical School. My education focused on intellectual and developmental disabilities. My own research background and interest before I came to the NIH was Alzheimer’s Disease in individuals with Down syndrome. Prior to coming to NCATS and the ORDR, I spent 10 years at the Eunice Kennedy Shriver National Institutes of Health and Human Development (NICHD) where I worked in the Office of Intellectual and Developmental Disabilities. My portfolio was diverse and included both basic and behavioral science. Originally, it consisted of Fragile X syndrome and other developmental disabilities. However, over time the focus shifted to managing the Hunter Kelly Newborn Screening Research program. In this position, I was immersed in many issues, both scientific and policy related, that affects many of the rare diseases. In a sense, you could say that my entire career has been focused on conditions that are rare. I also value the perspective of and have worked with families in various capacities throughout my career. I think they are a very important component of our work - as our research is really for the patients and families with these diseases.

Dr. Sahin: Was the research that you did with Down syndrome and Alzheimer’s disease at the basic, clinical, or translational level?

Dr. Urv: I was doing behavioral research, looking at the early indicators in individuals with Down Syndrome. There are many early indicators that family members and caretakers can monitor for Down syndrome patients that may point to early signs of dementia. I was lucky that the projects that I was involved with were part of longitudinal natural history program of dementia in Down syndrome; as such I was lucky enough to be part of a multidisciplinary team consisting of neurologists, geneticists, cognitive psychologists, epidemiologists, and physicians that worked very closely together.

Dr. Sahin: It sounds like you have been involved with rare disease research throughout your career. From your perspective, what are some of the opportunities and challenges in rare disease research?

Dr. Urv: Rather than opportunities, I would like to say strengths of rare disease research. The strength within the world of rare disease research lies within the people. You would be hard pressed to find a group of people that are more intelligent, dedicated and caring than the scientists, clinicians, families and patients, etc. These individuals have drive and are committed to making a difference.

There are many challenges in rare disease research, and high on the list is that rare diseases are just that – rare. This makes doing research using standard methodology challenging – innovation is needed. As someone who has spent a great deal of time focused on Newborn Screening that in and of itself is a challenge. The diagnostic odyssey also comes to mind. The old saying is that if you hear hoofs, think horses and not zebras; however, I think that with 25,000 million zebras prancing about they should not be discounted quite so quickly or easily. There are also challenges related to drug development. The list goes on and on and it is easy to become discouraged. However, that is when you need to stop and think of the strength of the rare disease community, its people, and trust that these intelligent, dedicated and caring scientists, clinicians, families, and patients will find a way.

Dr. Sahin: Now that you are leading the RDCRN, what do you see as a major accomplishment of the network from your perspective and the NIH perspective so far?

Dr. Urv: I think one of the most important things about the RDCRN is that it encourages collaboration among stakeholders. In rare disease research, there are often silos. Researchers, clinicians, patients, and caregivers may all be focused on a specific rare disease, but there may not be consensus as to what needs to be done to move the field forward. The RDCRN brings together all the partners and allows them to work collaboratively to find a productive path towards a treatment. Another strength of the RDCRN project is that it is funded by multiple NIH institutes and centers working together and bringing different strengths and perspectives to the table.

We hope that the past success of this program inspires new disease groups, along with the established groups to apply for the next iteration of the RDCRN when the time comes. The basic foundational work that the consortia provide are necessary to move towards treatment.

Dr. Sahin: Going forward, what do you think are some of the goals or priorities that you are going to bring to the ORDR and RDCRN?

Dr. Urv: I think it is important to look at the RDCRN as a network that can inform the scientific community on more than just information about specific diseases. While the findings that each individual consortium brings to light are invaluable, the knowledge to be gained collectively for rare disease research is priceless.

For example, some of the rare disease consortia are more mature, or further along in their research programs than others. They may have a strong registry, a good understanding of the natural history of the disease, and potential treatments for the disease. How did they get there? What worked and what didn’t work? We have over 7,000 rare diseases – each disease should not have to start from ground zero on the journey to finding treatments. Many of the methods and techniques developed within the RDCRN could be generalized to other conditions. The knowledge gained from this program is a valuable resource that could be shared with both within the RDCRN and with other rare disease groups that are earlier in their journey towards finding a treatment.

We get calls every day from family groups and parents whose child has just been diagnosed, asking what needs to be done to move forward. We want these individuals to feel like the ORDR and RDCRN are safe places for them to come to for advice and support.

Interview conducted by Mustafa Sahin, MD, PhD, and transcribed by Cameron Hainline

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