Citizens United for Research in Epilepsy (CURE)

Episode 6: CURE Epilepsy

Citizens United for Research in Epilepsy (CUREwas founded in 1998 by parents of children with epilepsy. Since then CURE has raised more than $60 million to fund epilepsy research. We talk with Dr Laura Lubbers, Chief Scientific Offier of CURE, about CURE’s work.

Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.

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Guest interview:

Dr Laura Lubbers is Chief Scientific Officer of CURE. Dr Lubbers is an action-oriented, highly collaborative neuroscientist and in vivo pharmacologist. Dr Lubbers brings more than 20 years of experience to her role at CURE. She has led research projects and developed novel chemical entities to counter the effects of stroke, ALS, Alzheimer’s Disease and Parkinson’s Disease. 

Dr Lubbers holds a Bachelor of Science in Physiology, a Master of Science in Veterinary Medical Sciences (Physiology), and a PhD in Veterinary Medical Sciences (Physiology) from the University of Illinois, Urbana.

Regular Hosts:

Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.

Follow Kris on LinkedIn or Twitter.

Dr David Cunnington is a sleep physician and father to Will who has SCN2A. He is director of Melbourne Sleep Disorders Centre, and co-founder and contributor to SleepHub. David trained in sleep medicine both in Australia and at Harvard Medical School in the United States. David’s clinical practice covers all areas of sleep medicine and he is actively involved in training health professionals in sleep. David is a regular commentator on sleep, both in traditional and social media.
Follow David’s posts on sleep on Facebook or Twitter


Intro: Welcome to SCN2A Insights bringing you the latest research and clinical updates on SCN2A and genetic epilepsy from around the world.

David Cunnington: Welcome to this episode of SCN2A Insights. I’m David Cunnington.

Kris Pierce: And I’m Kris Pierce.

David Cunnington: And in this episode, we are talking to Dr. Laura Lubbers.

Kris Pierce: Laura is the Chief Scientific Officer in CURE. She is an action-orientated, highly collaborative neuroscientist and pharmacologist who brings more than 20 years of experience to her role at CURE.

Hi, Laura. It was lovely to meet you in Washington earlier this year at the Epilepsy Precision Medicine Conference convened by Professor Dan Lowenstein. I had the pleasure of meeting you there and learned a bit more about what CURE does and they play a large role with epilepsy research. Can you tell us a little bit about CURE?

Laura Lubbers: CURE has actually been around for over 20 years now. It’s also known as Citizens United for Research in Epilepsy, CURE for short. And it was established by a couple of parents who are really frustrated by the lack of knowledge around the underlying causes of epilepsy for their children and other children. They were frustrated by the lack of the availability for effective treatments and the side effects of those that did exist. So they set out to change this by funding basic research aimed at understanding the causes of epilepsy as a means to find more effective treatments.

What CURE does is we raise funds to support research. And to date, we have funded over 230 projects across 15 countries including 6 in Australia. These projects span the diversity of the epilepsies, not just pediatric or genetic epilepsies which I’m sure we will talk about more later. But also, includes acquired epilepsy, pharmacoresistant epilepsy as well. And we also have a very deep interest in funding research on Sudden Unexpected Death in Epilepsy or SUDEP.

Kris Pierce: In researching for the podcast, I read over the CURE’s mission, and our mission is to find a cure for epilepsy by promoting and funding patient-focused research. This is a very ambitious goal and I will certainly work beside you to help you achieve that. How do you go about this? You talked about fund raising, couple that with meeting that goal.

Laura Lubbers: We fund research so we collect proposals from researchers across the world and we have a very stringent review process by which they go through multiple stages of review to select the best proposals for funding. Importantly, we also include what we call a lay reviewer on our committees. We actually have multiple lay reviewers help us review these proposals to understand how the work that’s being proposed by investigators will actually impact patient and their families. It’s really important to us to include that as part of our review process because we do see this holistically. It’s not just about the science but making sure that it impacts the families and those affected by epilepsy in an important way.

David Cunnington: CURE has funded a number of signature programs and one of them is the Epilepsy Genetics Initiative. Can you tell us more about that program?

Laura Lubbers: In addition to the grant’s programs that I already mentioned, we have a number of initiatives that have taken a deeper dive into a specific focus. The EGI, the Epilepsy Genetics Initiative is one of these. What it does is it seeks to understand the underlying genetic cause of epilepsy for those who may not know the genetic cause. It’s actually believed that many epilepsies have a genetic cause.

For example, mutations in SCN2A are a great example of that. But the majority of people with epilepsy do not know the specific genetic mutation that may underlie their epilepsy. It’s important to understand this as it kind of influence treatments as well as family planning and different aspects of life with epilepsy.

What the EGI does is it takes data from those who have already had some initial genetic testing, specifically something called whole exome sequencing. In the case where maybe they didn’t get a diagnosis from that initial screen, what EGI has done is taken those data and reanalyze them over and over every six months or so. Because the pace of research is moving so quickly and we are constantly finding new genes that are related to epilepsy, it’s possible to actually turn up a diagnosis that wasn’t discovered on that initial screening.

Doing this, we’ve actually been able to identify genetic causes for epilepsy for a number of people. We’ve actually also identified a new gene related to epilepsy. One of the genes I just want to mention is another one of the family of sodium channel genes. It’s the SCN5A gene. We found two different mutations that may explain people’s epilepsy.

Whilst EGI is no longer enrolling patients, we have helped established that this reanalysis paradigm of existing data can be a very effective way of providing the information that people are desperately seeking and other groups are now taking on this charge to take this approach.

David Cunnington: It’s a really interesting point that you make. You can take the genetic information and sort of put it on hold and then just keep testing for new genes. One of the things I wonder about, a work colleague asked me yesterday about our son, Will, who is 17, is one of the oldest people around with SCN2A? I’m like, “He maybe one of the oldest people with a diagnosis.” But SCN2A has been around a long time, we just haven’t identified it. So there must be many adults with – who had just been given this label of an unknown developmental syndrome that has epilepsy and autism as part of it and maybe in the future where we might go is be able to retrospectively identify some of those people as having a genetic cause for their symptoms.

Laura Lubbers: Absolutely. It’s really important to be able to identify that. I will have to share that I do have a personal connection to epilepsy. My sister, my older sister Ellen, has a genetic epilepsy called tuberous sclerosis complex. She is now in her late 50s and we didn’t get a diagnosis for her until she was in her mid-teens. We had no idea what this was and we really had very little hope for her to have a better outcome, better prognosis.

But when we found that genetic mutation, we found that she had the TS gene, we were actually able to realign some of her treatments to give her better treatment plan and that happened when she was 40. So it’s never too late to try to understand the genetic causes of epilepsy and then treat with more appropriate treatments, more new treatments.

David Cunnington: Yeah, absolutely. Understanding the gene can also help as family understanding prognosis or natural history. We don’t know older people with SCN2A. What does an older person with SCN2A look like? That’s a bit of an unknown.

Laura Lubbers: Yeah, that’s true for most of the genetic epilepsies because the genetic revolution really is very new still.

David Cunnington: Another one of the signature programs of CURE is SUDEP. What actually is SUDEP? You mentioned that earlier.

Laura Lubbers: SUDEP is Sudden Unexpected Death in Epilepsy. It’s when a person with epilepsy dies unexpectedly for no clear cause. This is something that we as a community have not talked about. CURE is very much in the forefront of saying, “We need to talk about this.”

In the early 2000, we put together our first initiative to invest in research on Sudden Unexpected Death in Epilepsy. Unfortunately, a number of the people who have been founders of CURE have experienced this really catastrophic outcome of epilepsy. We have invested deeply in this over the years. We organized meetings, advocated for funding, and of course, we funded our own research that has helped understand the biological pathways that might contribute to SUDEP.

For example, one study we funded showed that seizures profoundly impact breathing or respiration. When a seizure happens it can actually completely suppress the breathing process and that’s likely to contribute to deaths. Another study has shown that the same genetic mutations that can be found in the brain to cause seizures actually are also found in the heart and can affect its function. These are some likely biological cause of SUDEP.

We are also were determined to help understand the prevalence of SUDEP. We were talking about it but really did not understand how many people were impacted. We helped fund a number of studies which have shown that the prevalence is about 1 in a 1,000 adults and children.

For example, in Australia where there are about 250,000 people living with epilepsy, that means about 250 people may die unexpectedly. We need to know this so we can develop preventative strategies and understand who is at risk for this so that we can do something about it.

David Cunnington: Just to put that prevalence data in perspective, my understanding is that that’s actually makes it more prevalent than SIDS, something that often people have heard more about.

Laura Lubbers: Yes, that’s true. And interestingly, there’s an interesting tie there with some additional work that CURE has funded. This is work that Ann Poduri who is based in the United States but had the great opportunity to go to Australia recently. What her recent work shown is that one of the genes that’s very commonly associated with epilepsy called SCN1A, it’s associated with Dravet syndrome, and also a high prevalence of SUDEP.

What she found in a small number of children who died of Sudden Infant Death Syndrome, SIDS, but who did not have a diagnosis of epilepsy, she found gene mutations in those SIDS children. This suggests that what has long been considered epilepsy-related mechanisms may also underlie the cause of death in other cases and helped show the importance of epilepsy research and how it can impact our understanding of other syndromes as well.

David Cunnington: What are some of the other research that’s going on in SUDEP in terms of both understanding mechanistic things but in terms of treatments and what we might be able to do to reduce the incidents?

Laura Lubbers: The community is now really gotten behind SUDEP research. There was a recent that’s called a Center Without Walls project that invested over $25 million into SUDEP research to again help understand prevalence and help understand biological pathways and also understand what other biomarkers might indicate whether somebody is at risk or not. So looking at changes in breathing patterns again, different model development that can be used to study and hopefully understand what happens in humans.

David Cunnington: How do you say natural history studies feeding into this bigger picture?

Laura Lubbers: I think natural history studies for genetic populations are critical. While we have identified the genes that may underlie the epilepsy, we don’t understand the natural history of many of these genetic epilepsies. We really need to understand that so that we can understand when is the best time to treat, what the expected outcomes and prognosis might be.

There are lots of groups that are doing this right now. Most of the genetic epilepsy groups recognized the need for this but a number of groups are talking about the need to come together and do this in a way that’s economically feasible and also done in a way that can really help identify the appropriate biological endpoints if you will to use so that we can understand for example when epilepsy starts in a certain genetic population so that we know when to anticipate and when to treat it and how to treat it. This is something that’s happening across the community but there are a number of groups that would really love to see this come together as a really comprehensive approach to studying the natural history of these genetic epilepsies.

Kris Pierce: What can we, as a global community, be doing to support CURE’s efforts?

Laura Lubbers: Well, I think what we need to do as a global community is come together around epilepsy. We already do that but, in many ways, epilepsy is still very siloed and it lives in the shadows. So many people are impacted by epilepsy. The estimates vary between 50 million and 65 million across the globe and it is the fourth most prevalent neurological condition and yet it receives much less research funding from governments than less prevalent conditions.

For many who have epilepsy, it is a life-long impact. It impacts their ability to maintain jobs, drive, and yet, we don’t talk about it. And people are still fearful about it. People who have not experienced epilepsy don’t know what to do should they see somebody having a seizure. In contrast, if we saw somebody having a heart attack or choking, we know what to do. So what we really need to do is bring epilepsy out of the shadows. We need to put light on it. We need to educate. We need to make it safe for those who are impacted by epilepsy and raise awareness around the global impact and the burden in the hopes that that will also help drive more economic investment into epilepsy research to help us identify better ways to treat and prevent epilepsy.

We, as a global community, need to come together to support research as well. We need to lock arms as organizations. We all bring – CURE brings a unique set of skills, the groups in Australia like SCN2A, GETA bring other sets of skills. And we need to bring those together to support the research and the clinical trials that are needed to test promising new medications. Many genetic epilepsies are relatively rare and so we really need to, everyone, to bond together, bring our families together to make that happen.

We also need to advocate and support research including raising the money needed to move the research forward, and there are lots of great organizations, CURE is certainly dear to my heart but again, it’s important that we are all working together to move this forward.

Kris Pierce: Yeah, that’s fantastic. And certainly, there was a real sense of that coming out of the genetic epilepsy meeting that we went to in September. There were people from around the globe and we were all talking about what we can do together. So it’s a really encouraging meeting for a patient or a family member to hear that the scientists were all going off into their little groups and like, “What are you doing?” and they are really trying to bring it together to take it to the next forward, which was exciting and encouraging to see, so definitely that global perspective.

Laura Lubbers: I agree. It’s one of the things that admire so much about this community. As a researcher, I work across many different what we call therapeutic areas. The passion and the commitment and the collegiality from the epilepsy researchers and the patient advocates is something that I haven’t seen in other groups. I’m really encouraged by that as well. That’s a really important piece of what our communities do so that we are coming together and driving that research forward.

Kris Pierce: I had the pleasure of meeting Laura in Washington earlier this year. What were your takeaways from our conversation today?

David Cunnington: Wow! It’s amazing what CURE has been able to achieve and is still achieving in terms of funding research and it just shows you the power of when people get together, work together, and work towards a common goal what can actually be done. So that was really inspiring and amazing work that CURE is doing and we really need to get behind them and support their efforts in epilepsy.  

Kris Pierce: Keep up with the latest updates by subscribing to this podcast. You can get regular updates on SCN2A through SCN2A Australia’s Facebook or on Twitter at SCN2A Australia.

Outro: This podcast is not intended as a substitute for your own independent health professional’s advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider within your country or place of residency with any questions you may have regarding a medical condition.