Prof. Oliver Blacque

This project is co-funded by Fighting Blindness and the Health Research Board (HRB) under the HRCI-HRB co-funding scheme. Through this study, Professor Oliver Blacque and his team at UCD are working on Inherited Retinal Diseases (IRDs) and specifically the Retinal Dystrophy in Ciliopathies (RDCilia project).

Project: Retinal Dystrophy in Ciliopathies (RDCilia): modelling patient mutations to decipher disease mechanisms, interpret Variants of Uncertain Significance, and uncover therapeutics.

Start date: 2023

Amount: €338,000

Prof. Oliver Blacque
Prof. Oliver Blacque

Professor Oliver Blacque is a Professor in the School of Biomolecular and Biomedical Science at University College Dublin (UCD)

We spoke to Professor Oliver Blacque about his current work. You can now listen back to what he told us in the following podcast series. The interview below is the transcript of the episodes. 

  1. What is your research focus and what does our charity, Fighting Blindness, mean to the work you are doing?
  2. What are the overall aims of the project you are working on, including how it could have an impact on those affected by sight loss?
  3. Why do you use worms to study Inherited Retinal Degenerations (IRDs)?
  4. Why did you get into research and what do you most enjoy about it?
  5. What are your other interests?
  6. Within the next five years, where do you expect great advances to be made in vision research?

 

1. What is your research focus and what does our charity, Fighting Blindness, mean to the work you are doing?

 

 

  • To download the mp3 version of the file directly to your device, please click here:

Fighting Blindness- Meet your Researchers: Prof. Oliver Blacque │EPISODE 1

  • Click here to find the Episode 1 on Spotify.
  • The text below is the transcript of the Episode 1.

 

My name is Professor Oliver Blacque and I’m a professor of Biology & Genetics here at UCD where I run a research group; we are interested in human diseases of a particular type and we work with Fighting Blindness in the last year or so. My interest research-wise has been surrounding this tiny little part of a cell called the cilium which is the part of the cell at the back of the eye that senses light in the photoreceptor cell. So I’ve been interested in this little cellular structure for quite a long time; one of the reasons I’m interested is because this little structure causes so many different diseases including vision loss.

Professor Oliver Blacque and the Research assistant Ana Fitzsimons are wearing their UCD lab coats and standing next to a microscope in the laboratory
Professor Oliver Blacque and the Research assistant of the RDCilia project, Ana Fitzsimons

More broadly my lab is interested in a class of human diseases called the ciliopathies and in these diseases, patients have problems in many different organs but the eye is frequently affected. Over the years we’ve been studying syndromic Inherited Retinal Degenerations (IRDs) where patients actually carry not just blindness or eye problems but also defects in other organs. So one of those diseases is called Bardet-Biedl syndrome (BBS); in fact that’s the focus of this particular funded project with Fighting Blindness. Over the years we’ve tried to understand why patients have BBS, what is the cellular problem in patients with this disease and how might relate to the visual defects that we see.

Working with Fighting Blindness on this project really brings a different perspective to the normal type of research and funding that my lab has experience in. So with Fighting Blindness we are much closer to the patient and this is something that I hadn’t really appreciated up until the last few years. It’s always been a little bit abstract I think in the lab with regard to what impact our work actually has on patients, because we’re funded by agencies where perhaps we don’t have the opportunity to interact with the patients like we would with Fighting Blindness. – Prof. Oliver Blacque

2. What are the overall aims of the project you are working on, including how it could have an impact on those affected by sight loss?

 

 

  • To download the mp3 version of the file directly to your device, please click here:

Fighting Blindness- Meet your Researchers: Prof. Oliver Blacque │EPISODE 2

  • Click here to find the Episode 2 on Spotify.
  • The text below is the transcript of the Episode 2.

 

In this project, my lab is going to study a certain type of Inherited Retinal Disease (IRD) called Retinitis Pigmentosa (RP). This is quite a rare disease, as most IRDs actually. It probably affects around 1500 to 2000 people in Ireland, up to 15,000 to 20,000 in the UK and certainly near 100,000 in the USA. So still a lot of patients are affected by this particular disease where they lose some of the crucial cells at the back of the eye in the retina called photoreceptors. As a result, the patients develop legal blindness often by their teenage years fully blind in in the subsequent decades.

So we’re trying to do three things, and we use an animal model, a little worm actually, to try and understand how these diseases occur.

  1. Therapies development: In the first point, we want to know if we can resolve the disease if we can come up with any leads to therapy.
  2. Diagnosis: The second question we’re interested in is diagnosis; so for a lot of patients with IRDs, we don’t actually know what the genetic causes of their disease.
  3. Providing the patients with information: The last thing we’re interested in is trying and understand the disease in terms of what we can do to improve people’s lives by giving them some scientific information that can help them in their journey towards understanding their disease and disseminating it in that way.
The Research Assistant Ana Fitzsimons smiling in the camera while working with a microscope
The Research Assistant in the RDCilia Project, Ana Fitzsimons

So this type of work you know that we do is not cheap, it’s expensive work, and we need funding for it; without funding you simply can’t do the research. So Fighting Blindness coming in here and giving us significant funding for the RDCilia project, means that we can do this work and we can try and make a difference with regards to understanding the disease and the difference for patients.

 

3. Why do you use worms to study Inherited Retinal Degenerations (IRDs)? 

 

 

  • To download the mp3 version of the file directly to your device, please click here:

Fighting Blindness- Meet your Researchers: Prof. Oliver Blacque │EPISODE 3

  • Click here to find the Episode 3 on Spotify.
  • The text below is the transcript of the Episode 3.

 

The worm (Caenorhabditis elegans) has some excellent advantages for disease research:

  1. The first thing is that many of the genes that we see mutated in IRDs, like retinitis pigmentosa, are present in the worm.
  2. The second thing is that these genes tend to function in similar ways in a worm versus a human, so we can really try and understand the function of the gene by turning to these simpler systems.
  3. Probably the strongest, or the greatest reason, for using worms is that genetically we can manipulate the worm in any way we want so we can make the same mutation that humans carry in the worm’s version of its gene. We make our little worm models of human disease mimicking the human patients mutations and we have some really great readers of the gene. We need to know if the gene is functional in a worm and does it works normally if it carries the patient mutations.

We have some really excellent ways of doing that; the worm uses these genes to smell and sense this environment just like these genes are used to sense light in the human eye. So in the whole animal context, we can really understand the effect of patient mutations on the on particular worm genes that are similar. We also hope that with the worm we can do some drug screens; because they’re so tiny, we can grow them in tiny volumes of liquids and we can add drugs or potential drugs into those liquid suspensions. Then we can see if they can improve the sensory defects that we see in the worms where these genes have been mutated. We can screen thousands of drugs in this way and come up with some candidate drugs that could actually resolve the worm’s problem.

So the idea is that if we get any good hits from our drug screens in worms, we can then test those in the fish because the fish is closer to the human case and so if anything works in the fish model, then that could perhaps lead to doing experiments ultimately in the human clinical trial scenario! – Prof. Oliver Blacque

 

4. Why did you get into research and what do you most enjoy about it?

 

 

  • To download the mp3 version of the file directly to your device, please click here:

Fighting Blindness- Meet your Researchers: Prof. Oliver Blacque │EPISODE 4

  • Click here to find the Episode 4 on Spotify.
  • The text below is the transcript of the Episode 4.

 

I guess I’ve always been interested in the lab, and I think this comes actually from way back during my secondary school education. I really enjoyed the biology practicals that we did in school. I always liked the discovery process, and of course when I went to university and studied Biochemistry, and Immunology actually at one point.

I enjoy being in the lab; there’s something about designing an experiment carefully and finding something or making a strong conclusion based on your data. When I did my Ph.D., I think I really began to understand the excitement of making a new discovery.

In many walks of life we think about success as being profit driven making money but in the currency of the scientists that currency is very much about making discovery. – Prof. Oliver Blacque

When you make your first discovery in the lab it’s really exciting because you have found something that really nobody else has found before; it’s hard to explain this to people that don’t work in the lab but it’s really powerful and empowering. At that point, you really feel like you’re making a difference. I think there were a couple of points like that for me during my Ph.D. and certainly my postdoctoral work afterwards in Canada, that set the train for me to be in research. Since that point I guess I haven’t really looked back.

Prof. Oliver Blacque working with the microscope
Prof. Oliver Blacque

 

I have loved the discovery process; I’m very interested in human disease and human disease resolution. I’m very interested from the patient perspective in contributing to something that could really help them, and certainly working with Fighting Blindness in the last year on this new project has really got me thinking about the importance of the work from a patient’s perspective. I feel privileged to be able to do this research but I also feel that we really have to deliver. Overall I think we can be successful and I am as motivated as ever to to try and make a difference.

5. What are your other interests? 

 

 

  • To download the mp3 version of the file directly to your device, please click here:

Fighting Blindness- Meet your Researchers: Prof. Oliver Blacque │EPISODE 5

  • Click here to find the Episode 5 on Spotify.
  • The text below is the transcript of the Episode 5.

 

I guess I have a bunch of other interests; for my job, I am very interested in teaching the next generation of scientists. I really enjoy interacting with the new Ph.D. students in the group, and I feel a strong responsibility to train them as best we can in the lab, to become the next generation of scientists. I’m interested in their well-being. I’m also interested in just teaching in general here at UCD, particularly when I get a chance to teach about human disease research- those are some of my favorite lectures.

I also have other interests outside of work; I’m interested in rugby and I have an interest in foraging for mushrooms. That’s something I would encourage a lot of scientists to look into as it appeals very well to a sense of attention to detail.

I’m also interested in contributing to my peers in the wider research community and I can give two examples of that:

  • I’m also the chairperson of the 6th biennial European Cilia meeting (Cilia2024) which sounds like a very niche type of meeting but we will have many hundreds of people here in UCD on September 24. It’s a three-and-a-half-day meeting and we’re going to integrate a significant number of patients, some with IRDs, in a separate meeting that runs just before the main meeting here in UCD. The main scientific meeting then will have a strong focus on basic science, the genetics of disease including IRDs, and we will also have a session on therapy and potential routes to cures.

6. Within the next five years, where do you expect great advances to be made in vision research?

 

 

  • To download the mp3 version of the file directly to your device, please click here:

Fighting Blindness- Meet your Researchers: Prof. Oliver Blacque │EPISODE 6

  • Click here to find the Episode 6 on Spotify.
  • The text below is the transcript of the Episode 6.

 

I think for the next five years we’re going to see great advances in Gene Therapies. So we already have one really great gene therapy for a form of IRD caused by mutations in the gene RPE65, called Luxturna. In fact, I believe that was the very first gene therapy for any inherited disease of any kind.

I think we’re going to see new gene therapies emerging for the different genes associated with IRDs. We have over 300 genes associated with IRDs; that one gene has worked well in the gene therapy Luxturna means, I think, we can expect more gene therapies emerging over the next five years. Technically and experimentally, the approaches are improving dramatically on an annual basis. I think we can have a lot of hope, and patients can have a lot of hope that these therapies are going to come on line. – Prof. Blacque

 

I think we’ll also see Stem Cell Therapies, so replanting of cells into the eye and basically generating new types of cells that are degenerating in disease.

 

I think we’re going to see great advances in Diagnostics too. So one of the things that people are really interested in is trying to diagnose earlier vision defects and blindness. Artificial Intelligence (AI) has started to play a big role in this in the last few years. AI can actually look at images taken of the retina and can see things that neurologists or visual scientists can’t easily see.  I think there’s a lot of excitement and applying AI to the early diagnosis of various visual defects and diseases.

 

Also, I think we will see advances in standard Drug-based therapies; I am referring to drugs that can basically solve IRDs, or at least maybe not completely solve them, but help IRDs to restore vision. Those screens are coming on board; in fact, in our RDCilia project, by screening worms with 10,000 drugs, we really hope that we will find a few that can actually restore to our worms the loss of function from the patient mutation, and we hope some of those can go forward at some point – maybe even to a clinical trial.

 

Follow Prof. Oliver Blacque on his Twitter account @oliverblacque to stay in touch with the most recent updates on his work! 

 

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