FLG: Can you introduce yourself and your work?
I’m Alfredo Iacoangeli and I’m a doctor in Biophysics. About four years ago, I moved to King’s College London after completing my PhD in Rome and am a bioinformatician working with large data sets of sequencing data from ALS (amyotrophic lateral sclerosis) patients. I am part of an international collaboration called Project MinE which aims to collect whole genome sequencing of around 22,000 individuals, 15,000 of which are ALS patients. We’re doing this because ALS is a very complex disease in terms of genetics, and we need a large number of samples to be able to tell you the genetics that could contribute to the development of it. Because it’s a rare disease, it’s difficult to collect the number of samples needed for analysis in only one country, so we need to team up across the world. My work at King’s College London involves exploiting these data sets that we’re collecting, and we’re currently half-way through with just over 10,000 samples collected. One side of my research focuses on finding new genes and new genetic factors that contribute to the disease using my bioinformatics skills, and the other side focuses on developing new methods to exploit the potentialities of these large sequencing data sets and going beyond the study of single nucleotide polymorphisms and small indels.
FLG: What motivated you to pursue a career in your chosen field?
I originally trained as a Physicist, so I don’t come directly from a biomedical background. However, my master’s degree was in Biophysics and that was where I got an overview of biology and what biological problems there could be in the future from a mathematical and a computational point of view. After completing my PhD in Rome, I decided to move from theoretical physics to applied genomics/biomedical research because I thought this was an area where I could make an impact and where things were moving faster with more and more data being generated. New technologies and new methods were coming up often, and from a research point of view it seemed like the most exciting challenge. Whilst exploring what to apply this on, I found that ALS is a terrible disease that needs this effort, so I feel like what I’m currently doing is more practical and will end up helping someone. Throughout my educational training, I was working on point models which were very fun and interesting, but for me it sometimes felt like I was working on something a little too abstract.
FLG: What do you enjoy the most about the work you’re doing?
What I enjoy the most is that there’s a lot of freedom. Project MinE is a really new project with lots to do, and there’s nobody that knows all the aspects or the methods available to do it. My research is a combination of applying things to these datasets and also coming up with new ideas to develop new methods. This uncertainty is quite exciting for a researcher, and every week I get to develop solutions to problems that I have never faced before, and this is ultimately the art of sequencing projects around the world.
FLG: What are the biggest challenges you face in your work?
This is the first time in history that we’re collecting such a large amount of genetic data for ALS. There’s a lot of challenges that hospitals and research centres are not really used to facing, and we must sort them out as they happen for the first time and develop completely new strategies to do things that have never been done before. This involves the size of the data, which is incredibly large, and often because our research is very biomedical, there’s a combination of people working on this data such as clinicians and researchers. Researchers can be biologists, physicists, or even computer scientists, and so getting everyone to understand the problem at the same level is quite a big challenge.
FLG: Thinking more broadly in the whole genomics field, why do you think we seeing an increase in the demand for genetic data?
I think we are seeing an increase for several reasons. Genetic data has incredible potential and you can do many things with it. Every week and every month there are new questions that we can ask genetic data because new efforts are being developed. But at the same time, sequencing is also getting cheaper. There’s also an awareness of the potential this data has, and people are also understanding that this data is not something abstract and everybody is able to get it quite fast and quite easily. Even computing is helping a lot, and research centres and private researchers can manipulate the computational inputs to allow them to do whatever they need in the moment. So overall, I think raising awareness from both a technical point of view but also scientific point of view, is making people want to get genomic data.
FLG: What do you think is the most exciting thing happening in genomics right now?
When the first genome was sequenced, it costed billions of dollars and experts said that one day it would cost almost nothing and be very fast. I was studying during those 13 years it took to complete, and I think now that’s definitely what is happening. I’ve already seen some sequencing providers able to sequence the full genome of a person in a week or two, so the time between DNA collection and delivering data has shortened significantly. The price is decreasing and now you can find sequencing for a few hundred dollars. I think this is most exciting time, and what was being created and found while I was studying is actually happening right now.
FLG: What breakthroughs do you see happening in 12 months or 5 years?
In the next 12 months, I think we will be reaching the goal of getting the whole genome of a person sequenced for around $100. In 5 years, what I think we will see, and I hope to see, is sequencing being a common practice all around the world. This has already started in the UK, with the NHS beginning to sequence the genomes of patients. However, this is only an isolated plan and not happening in other countries in Europe or other countries in the world. This is a big limitation for genetic studies and our knowledge of the genome overall, as genetics is something that varies across populations. I think 5 years is a reasonable amount of time in which the genetics of different people across the world will be available in large numbers, and is just around the corner.
FLG: Why are you speaking at the Festival of Genomics this year?
I’m really thankful to be speaking at the Festival of Genomics because when you carry out research, you tend to isolate yourself a little and gain a network of researchers that are interested in what you are doing, but this can be a very limited audience. This is not just in terms of assimilating your research, but also in terms of the input you can receive from external sources. I think the Festival of Genomics connects a wide range of different people, from those working in machine learning to applied biomedical science, people working just in genomics, from cancer to neurology, and also companies that are developing new methods and new techniques in order to do the research. This is a very broad environment that is very beneficial for researchers, and is why I’m going to present our big international project and hope that this will lead to some new collaborations and some new ideas.
