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Conversation with Gemma Marfany. Part 3

Gemma Marfany associate professor of Genetics at University of Barcelona.
But we have to talk on understanding and mainly trying to cure this disease we have to go one by one, so the process is different for each of them and in many cases, it seems that the pharmas (pharmaceutical companies) are not very interested in trying to work at this field because the number of affected individuals for each of them and possible costumers are very few. True, that’s the main problem of rare diseases. The problem is that treatments are… there are not many treatments, so many of them do not have any treatment at all. But why not? Indeed, because you need research before and then you need to invest a lot of money to take any treatment for the diseased person.
I think that pharma is interested whenever they say, or they see that this is going to be a source of money for them, of income for them, that’s for sure, because they have to invest lots of money before. So, for some diseases that are very severe, that there is no treatment at all, and the quality of life is really affected, then maybe, they can develop some type of treatment, since for instance, the one that I already told you, about treating genetic blindness just with an injection of a viral therapeutic vector so it’s a virus. In situ, you mean? Just in the retina? Sub retinal.
But it’s only a single injection that it’s going to cost one million dollars for two eyes. That’s a lot. Wow. A single injection. Single injection for treatment. For some specific people that are going to get blind. But then if you don’t get blind, this is also relevant, right? The thing is, who is going to pay for this? Well, you can think about getting a mortgage, for instance. So, for some diseases there are going to be some treatments. The other thing which I think we should explore is what we call orphan drugs.
So, drugs that have been already developed, that have already at use, but they can be used also in some particular diseases because they are interacting in the same pathway, -the molecular pathway that in this disease is affected- and can help people to get at least that the traits are not so severe or the progression of the disease is slowed down. So, this is also a treatment, and this is a resource that we should explore because the development of the drugs is already there, it’s just that we need to know which drug can be used in each of the rare diseases. But it seems that it should already be known.
Sometimes the feeling is that this kind of approach is just trying to get something, let’s say at random. I don’t think a scientific approach is random, is just that you need to gather lots of knowledge before, lots of basic research before going up to a clinical essay. So, I would say that indeed for a person who is suffering a disease, the tempo is very slow for them. It is. Because they are already suffering for the disease, or they are going to suffer it, and they’re going to get blind in ten years’ time and there’s no way to the treatment.
The thing is, that’s true, but then you may think about… in the future, if this is going to be treated or not. If these efforts now, that are going indeed slow, but little by little building up the building of knowledge, maybe someday they’re going to pay off. So, what I think is that personalized medicine is now lurking, is now already there, is now in the future, we are already arriving here, little by little. And then, what I think is that the future is going to be more personalized medicine for everyone. So, what are your genetic variants, if they cause a disease or they predispose, they increase your risk to suffer from a disease.
So, then we can prevent before it happens, or we can tell you “be aware that you are able to transmit this disease into your progeny”. So, be aware before it happens. Just to finish, what is Orphanet? Yeah, this is a very nice question because most of the people around the world don’t know about Orphanet. Orphanet is a resource, is a public resource that I think is very useful for any kind of person involved in rare diseases.
So, there are many stakeholders, you could be just an association of patients, you could be a patient yourself, you could be scientist, you could be clinical doctor, or you could be… I don’t know, an institution, a more public institution which is thinking about how to address the rare diseases. And you need data, actually, data that is gathered around the world. So, Orphanet, what it means is a website that is public where you can find all rare diseases, all the information that is allowed.
So, you can find indeed all the association of patients, you can find at least what is a disease and the main traits; and you can find who is an specialist in this disease because sometimes for rare diseases, I mean, the medical doctor, the clinical doctor that knows about the disease maybe there is one in Germany and one in Spain and you are in France. So, you need to know where to go because these are the best specialists for your rare disease. And this is there. You can also find if there is any clinical trial on-going or finished, what are the results; if there is orphan drugs that can be used for this.
So, it’s a way to put all this information for the diseases all together, and it doesn’t matter if you are a patient or a scientist, you can find very useful information there, and it’s public. So, the European Commission paid for it, it started in France and now is European. And I think this is a nice place to go if you are interested in it.
Gemma Marfany, associate professor of Genetics at University of Barcelona.

She works on human molecular genetics, to understand the genetic and molecular bases of vision diseases that are caused by a simple Mendelian way of transmission, mainly in retinal dystrophies; dissecting the factors that are important in the retina function with the differentiation of several neuron types.

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