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Conversation with Gemma Marfany. Part 2

Gemma Marfany associate professor of Genetics at University of Barcelona.
Yeah. None the less for many cases, now we know the genetic defect and there is nothing else beyond that. So, there are hundreds of genetic diseases for which the genetic base is very well-known, but nothing but that. How is going to advance the field? I think that we should not, we should take a bit of… we should wait. So, knowledge is something that is built upon it. You may start by the beginning on the foundation and you don’t see the building. But then little by little things are making form, shape. And then the more we know, the more we are going to intervene. For instance, many diseases we know like haemophilia or like the ones that I’m studying, genetic blindness…
We know the genes behind, we know the mutation and we couldn’t intervene. So, people that got the mutation and got the disease, eventually got blind and there was no treatment. So, it was a bit of desperation, right? Because we couldn’t apply our knowledge but because we started working in making research in animal models, trying to emulate exactly the same genetics as in humans and trying to test and check what we could do, then you can come with the treatment, that right now for instance has been approved by the FDA, so the Food and Drug Administration in the USA, which is particularly designed for treatment in a specific type of genetic blindness.
But you know, it’s been like 30 years since we found the gene, until now we can think about a treatment. So, things are building upon. We need to know the research. No doubt. No doubt that the knowledge of the gene doesn’t mean [we know] the way of treating that. You have been talking on animal models. Are they necessary? Yes, I think so. Particularly depending on the disease, always. It’s not just rats or mouse. Depending on the question you’re trying to answer you have to choose, your cell or animal model.
It is true for instance in the eye, I cannot just make a cell and see if the cell is surviving or dying to know exactly what is happening at the retina which is a very complex organ. If I wished to know what is happening in the retina I need an animal with a retina, so I need some animal model that can tell me what is happening. So, the thing I’m trying to make is, you don’t need to go always to animal models, but animal models are required. So, what we have to do is a rational approach.
What type of questions are answered with cells, what type of questions with animal models, what type of questions with induced pluripotent stem cells derived to a particular type of organoid. Depending on the case, always with a rational quantity respect for life. So indeed, this thing I think that, yeah, research needs many different legs, is like you need different legs for table, you need different legs also for a chair. Animal models are one of them. We are talking on rare diseases, retinal rare diseases. How rare are these diseases and to which extend when we say “retinal disease” this means a single one or many different entities?
Well, first of all, rare diseases are rare, so that means not much frequent, but taken only one by one So indeed, if I study haemophilia -that is maybe one in ten thousand people affected-, if I’m talking about retinal diseases is one in three thousand people affected. Different types of, different types. So maybe is affected the retina, maybe is affected… but yeah, is one in three thousand. But if we are talking about any person that is affected by any rare disease that is not so infrequent, we’re talking about eight or ten per cent of all population in the world has any type of rare disease.
So, actually is a social problem, is a social health problem that affects all of us, we’re talking about one every ten person has a rare disease. But a rare disease among thousands of them. That’s the point. So, all taken together, that if you take any rare disease one by one, now then the number of affected people is low. But if we sum all of them, that’s something important.

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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