Prof Kate Bushby - Genes to treatments

Kat:: While it's useful to track down the gene faults responsible for rare genetic diseases, what patients and families really want are cures. And although individual rare diseases are by definition rare, added together they affect a significant proportion of the population. But while many scientific papers over the years have loudly proclaimed that finding a particular gene will "lead to new therapies", the reality is that progress in turning genetic data into treatments has been slow. I spoke to Professor Kate Bushby from Newcastle University, to find out how close we are to making this a reality.

Kate - I think that the disease I particularly work on Duchenne muscular dystrophy, forms a very, very good and saultary example of where we're going in that direction. Because the gene for Duchenne, the dystrophin gene, was identified in about 1986 and here we are in 2013 with maybe a couple of therapies about to get conditional approval, but we don't have disease transforming therapies on the cards for patients at the moment. And I think that's because we haven't really taken enough notice of the very long pathway that it takes to get new developments in genetics through the animal models into the trials and into the patients. And we haven't seen the drugs getting into clinic so far because of the time that that takes to assemble the patients, to train sites to the trials, to understand what the outcome measures are. And these are the barriers to translation research in rare diseases which we probably haven't addressed this dramatically enough as yet in order to truly benefit in the advances in genetics.

Kat - What are some of the key players in this who really need to get their act together to make a difference to patients with rare diseases?

Kate - So, key to all of these are the patients' organisations because with rare disease research in particular, they frequently provide the impetus for a group of doctors or a group of researchers to start working on a particular disease. They often provide seed funding for that and they also often contribute at a very great level to the development of patient registry. So you need your patient organisations on board. You need the researchers who make their initial discoveries and who, perhaps make these grandiose statements about how genetic discoveries are going to turn into therapies, to really get their head around what that means. We don't educate our scientists enough about the translational pathway I think so the basic scientists are a little naïve when it comes to understanding what the pathway is for the majority of them. And then the doctors, the people who see the patients need to understand the importance of directing them towards registries, whereby they can get linked into research. They need to become involved in developing natural history studies which will allow us to understand outcomes better and if possible, they need to get their resources in their own centre to get the trials up running as well. So, it's a partnership. All of these things are very much partnerships and we need to collaborate in order to make it work.

Kat - And I guess one of the big challenges is the money, and the money to develop drugs, the cost of drugs, and then just the money to fund the research. Where is that coming from?

Kate - Well, rare disease research has been getting some investment recently. The International Rare Disease Research Consortium known as IRDRC has brought together funders in rare diseases with the ambitious aims of having 200 new therapies for rare diseases by 2020 and diagnoses for all rare diseases by that date. So, there's a new emphasis on rare disease research which leads of course always to a little bit more money. The European Union has funded research in rare diseases at quite a high level and continues to do so, and that's a great priority of them. National funders have other priorities of course, but it's beginning to creep onto the agenda, and pharma is the newcomer on the block. Pharma is beginning to really make a difference to funding of therapy development in rare diseases, adding to the previous landscape where small patient organisations are often struggling to try and make progress. We now have a much broader range of funding opportunities available in this area.

Kat - And with the explosion that we've got in gene sequencing and understanding the genetics involved in the diseases, do you hope it will be faster than what it's taken for the research in Duchenne to get to the clinic?

Kate - It should be faster. We have new tools at our disposal. We've learned a lot. The worry is that what we learn in the Duchenne field isn't extended to other areas. So, other people have to start from scratch and sharing of information through meetings such as this and through other mechanisms for the collaboration are really, really important. And I think that's beginning to happen across the rare disease community because every new discovery shouldn't have to reinvent the wheel in terms of the processes by which they bring drugs to development. And there's a lot that people have learned so we should share that.

Kat - That was Professor Kate Bushby from Newcastle University.