1. Chris - Please comment on the level of collaboration of NP-C researchers in the development of cyclo as a treatment?
  2. As I often say, translation is a team sport, and this project is a perfect example of that adage. NP-C researchers, families, and foundations were collaborators from the very beginning of the project talked about in the WSJ. In fact, initial funding to get the project started came from the Ara Parseghian Medical Research Foundation. Over the last 7 years, multiple other patient/family foundations, 3 universities, 4 different Institutes at NIH, and a company have been part of the project team that has together accomplished what was described in the WSJ feature.
  3. The Trials project gained attention among Redditors when the WSJ released a video describing NCATs "Robot Lab." The role of robots in the research process became a topic of conversation during the AMA.
  4. What role does automation play in the research process? How much of it can be done by robots vs. humans?
  5. Automation is neither necessary nor sufficient to develop a new therapeutic, but like many things in life (from dishwashers to car factories) it can get things done more quickly, accurately, and cheaply, and free humans to do what they do best and robots don't: think and be creative. The reason automation is so critical to the drug development process is that the process is, I'm afraid, still almost completely empirical - that is, trial and error. In most projects, we test about 3 million different potential drugs and doses to find a few starting points for a drug. While this is a technological tour de force (and, as the WSJ story says, cuts 12 years of human effort to a week of robot effort), it is a tacit admission that we don't know what we're looking for! Over the long term, NCATS is devoted to improving the predictability of the drug development process by understanding the general scientific principles, which we don't understand now. A last thought is that robots only do what humans tell them to do. So really, the work is a robot-human collaboration.
  6. One of the things that I was struck by in my reporting is that, even as technology continues to rapidly evolve, the human element is critical in the research process. By this I mean, often research projects begin because a scientist is curious about a question, an issue, a disease. Or a research project gets going because an advocate looks around and sees that not a lot is being done in his or her disease and so money needs to be raised, scientists need to be contacted, government officials need to be engaged. I think technology is crucial to making important discoveries, elucidating new ways of thinking about a disease, but the human element--particularly the role of a patient--can make a difference. Josh Sommer of the Chordoma Foundation was a college student at Duke when he was diagnosed with chordoma, a rare cancer. Not only did he and his mother found an organization, help raise money, drive research, set up a tissue bank, etc but Josh even worked in a lab with a chordoma researcher. I can only imagine how inspiring that must have been both for the doctor/researcher and for the patient advocate, Josh.
  7. Much of the Trials project focused on the part parents of children with NP-C have played in seeking a cure for the disease. Patient advocacy is a growing topic of interest among many readers.
  8. This question is for Amy Marcus. In your discussions with patients and patient advocates, is there any consensus on what can be done about the skyrocketing costs on orphan disease drugs, e.g., $400,000/patient/year? I've seen some talk about the first $1M orphan drug coming down the pike soon, which is not a sustainable prospect.
  9. Great question, and such an important issue, one that is drawing a lot of attention and discussion. There was a very interesting article in the Oct 17, 2013 NEJM called Full Disclosure: Out of Pocket Costs as Side Effects where doctors argue that, just as they would never prescribe a treatment without first discussing potential side effects with their patients, must now talk about the cost of the drug (and possible high co-pay for a patient) as just such a side effect. I interview many advocates, and the issue of cost is a really important one. But most of the groups I speak with are focused on trying to develop a therapy in the lifetime of the patients who have the disease, and have not advocated as much on the issue of the high cost of the drugs once they are developed or come to a consensus on how to respond. Given the economic realities you point out, this may start to change, and certainly in the physician community, you are starting to hear a lot more discussion.
  10. There are roughly 7,000 known diseases; about 500 have a treatment.. One reader asked about the process of identifying diseases.
  11. i have idiopathic chronic pericarditis, and even though i've been tested for just about everything they can think of, they still have no idea whats causing it. do you feel that at this point we have an ok grasp of most of the diseases out there, and how long do you think it will be for a better process of identifying diseases comes out?
  12. Several answers to your question. First, about you in particular: if you have not already, you should look into being seen by the NIH Undiagnosed Diseases Program at NIH; see genome.gov/27544402" class="">genome.gov/27544402. Second, we do not in fact have an adequate grasp of what causes many diseases, and therefore do not have a good efficient way to do diagnosis (particularly of less common syndromes) or develop interventions. The Human Genome Project put us on a path to much better diagnosis, and in fact over the last 15 years the molecular basis of over 4500 rare diseases have been discovered.
  13. Read the complete AMA here.