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a conversation with …
Dr. Matthew Might is developing a strategy for people seeking treatments for little-known diseases.
Ten years ago, when their son Bertrand was still an infant, Matthew Might and his wife, Cristina, realized that there was something terribly wrong.
When he cried, his eyes remained dry; the lack of tears damaged her corneas and threatened blindness. Eventually, he had epileptic seizures, movement disorder, and severe developmental delay.
It took four years to discover the problem: Bertrand had inherited two mutations of the gene NGLY1, which plays a key role in the recycling of cellular waste. This meant that the child's cells were suffocating with their own garbage.
Eventually, Dr. Might found about 60 other people with this mutation. He found a cure for the disease – an unplanned side effect of the over-the-counter Prevacid antacid – and began working with a company to produce a stronger version of the drug.
Now director of the Hugh Kaul Institute of Precision Medicine at the University of Alabama in Birmingham, he has started to create a road map for other families facing rare diseases, 10% of the population or 30 million Americans.
The Times spoke with Dr. Might about the challenges of seeking treatment for these diseases and the Mights' experiences with their son. The conversation below has been modified and condensed for more space and clarity.
Q. To what extent did you perform exceptional tasks for your son – find other patients and medication that you are currently working on to improve your efficiency?
A. For the moment, this seems to be a rare event. But I do not think it will be so rare to go forward.
Because some rare diseases are relatively easy to find and others are not?
In all the cases we have tried so far, we have found something. We are only finding existing drugs that are already working.
These are drugs that have already been approved for other purposes?
Reuse is a key step in the fight against rare diseases and avoiding the enormous costs associated with the development of new drugs. What you really want to do is test all the approved drugs available.
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Are some diseases particularly suited to this approach?
Epilepsies induced by ion channels – epilepsies whose electrophysiological origin is obvious. These occupy an ideal place to find treatments. They are somehow accessible with drugs. Many approved molecules will accidentally touch them, even if it is not what they are trying to do.
Obviously, not all rare diseases are as easy to find.
You have large classes of diseases where it is not so simple. You can not directly target the root cause.
Is this personalized medicine the future for all of us?
Personalized or precision medicine is the future – not only because it is better treated, but also in the long run, it will also reduce costs. In the end, by delivering the right medicine to the right patient at the right time, it will also become cheaper.
Are we already here?
I think we are at a point of inflection. The costs have been reduced to the point where it is reasonable to start doing this for practically everyone. A pharmacogenetic panel that will essentially tell you your answer to each drug on the market, in the order of $ 300. And you will have these data for the entire life of the patient. We are going to sequence everyone at birth at some point.
But know a genetic blip that causes enough disease to learn to treat it?
At present, there is a gap between diagnosis and therapy. Genetics has become very effective in telling patients what they have, but not what they should do next.
This is the purpose of your current work: to develop a road map that other families can follow in their search for treatment?
This is really the purpose of my life right now: to systematize the entire process of seeking treatments, that is, less art and more targeted science. One of the things I build as part of my institute at U.A.B. is the infrastructure needed to bring a patient from diagnosis to therapy.
This is an unknown territory for doctors. They're not used to saying, "What you have to do next is a science experiment." But for many of these rare diseases, that's exactly what you need to do.
What types of experiences?
It could be build a worm or a fly and test it. It can be a chemical screen, where you start testing compounds on a cellular or animal model. Or it could be a genetic screen in which you search for other genes that interact with the motor gene of your disease.
We develop a research plan for them and say, "This is the way you have to go," and you even connect them with good researchers to get to the next step.
Is it really possible for a family or a small number of people to develop their own personalized treatments?
As you network these societies and institutions, it suddenly changes the drug development of this insurmountable process to something that is truly achievable for individual patients or patient foundations.
Do companies have sufficient financial interest in developing a drug to treat a few hundred patients?
I have seen companies get involved in very small diseases. Patient foundations have a major role to play in reducing the risks associated with therapeutic development. If they "depreciate" it sufficiently, companies will intervene.
Your ultimate goal is to find a cure for the 7,000 known rare diseases.
For all 7,000, there is still a lot to find.
Is this realistic?
Realistic or not, it's a moral imperative that we do it. So we will do it one at a time. I learned that it is not very useful to focus on what is possible or realistic. Concentrate on the next step, continue to follow the next steps and see where you can go.
And how is Bertrand now, at 10 years old?
He is very happy. It certainly has serious development problems that will be difficult to correct. If we had intervened earlier, it could be better now. I am more optimistic about the next generation of patients.
I look at things like stem cells and regenerative medicine to see if there is a way to get Bertrand what he never had the opportunity to have. There are several next steps. I'm just starting.
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