Interview with Carsten Lederer, Guest speaker at Special Committee on Bioethics

What are some Bioethics concerns you have to think about in particular in your area of research?

Well, the risk – benefit analysis is a major concern because I don’t work on permanent correction of the germline or in neutral lethal diseases so we normally deal with adolescents or adults in therapy and there the concern is you know, is the risk justified by the benefit that the patient gets. In Cyprus in particular because you have disease management which is very successful so even the conventional treatment of bone marrow transplantation is not taken up for most Cypriot patients but that’s also because it’s not available here. You have to go abroad to do it. But it’s also because they feel that the management regiment is safe. So do you want to put them through you know this kind of treatment and the danger of developing cancer later on against them having a reasonable life at the moment. That is of course not my decision, but that is something that is relevant. The other point is how to get things effective against how to get things safe. Initially there was a huge discussion for thalassemia about whether we should give complete chemotherapy, and now it turns out that yes we should. But the initial discussion was you know, thalassemia is not lethal, with management, so we should just mildly do that, which is safer, but is probably not efficient and then you might as well not do the therapy at all. So for these type of concerns you’re going to know the answer with time, when you get the data in from those initial experiments.

You mentioned that when it comes to Bioethics, you are not only concerned about the possible effects of using a particular technique, but also about the effects of not implementing it. Could you expand on that? 

Well if you don’t provide a therapy at all, for some patients, they die, because while management is good in Cyprus, it’s not that widely developed so it’s not available in other countries. And while you may not be able to treat every patient there, maybe you will be able to help some of them doing this. So providing therapies is an obligation, and that’s something we work for so you always have to balance this, you know, the dangers like what if editing the germline endangers them in the future or opens the floodgate for society going for wider applications, for cosmetic research and so on, against the responsibility you have towards the patient who has a right to be treated with the best treatment available.

Could you tell us about Global Globin 2020? What is the goal and what is being done right now?

Our laboratory has the biggest, most important database on hemoglobinopathies worldwide, that’s the Ithanet Portal, and we got involved with Global Globin 2020 because the project is about mapping mutations in thalassemia in different countries. It was created by the Human Variome Project and they’re inherently interested in human variations and single nucleotide polymorphisms and they saw that our data base was probably the best around for this kind of analysis and for integrating data. The Human Variant Project is based in Australia and on these molecular aspects and they see  that now that the genome has been completely sequenced they plan from being molecular focused on being diagnostic and societal focused, to now apply the knowledge we’ve gained as benefit to society. So Global Globin 2020 wants to apply the technologies available to us also to low and middle – income countries. There are 40 countries involved already with representatives in the project. At the moment it’s all on finding money. Different organisations fund for network meetings and so on and the idea is that we actually implement the modern countries’ centers of excellence from which then we can start implementing similar diagnostic centers and screening programs also in other countries. The focus there is on Africa for Sickle Cell Disease and on South East Asia for thalassemia, because there’s huge poverty there, low income generally and absence of prevention programs, that cause huge suffering.

Other than thalassemia and sickle cell disease, what are other areas where you’d be interested in seeing the application of genome editing?

Well genome editing can also be used to do research. So you can knock out stuff and find out what it does basically. The classic approach was to look at mutants and see the phenotype and then find out what causes the phenotype and the mutation to take place. Now it’s the other way around, we can do reverse genetics and introduce a mutation and you know where and what takes place so you can chart the phenotype, so you can confidently map things. You can find out what different things do. Because our department is the thalassemia department so we really look at thalassemias and rare anemias. There are more diseases that also affect your blood, which affect a smaller proportion of people, that are much more diverse and one of the scientific programs we’ve proposed now is to look into other rare anemias. Of course, worldwide thalassemia is still rare, only in Cyprus and European countries, so we could also look at other anemias that can be treated with similar types of methods.