Autism Speaks is pleased to welcome geneticist Mathew Pletcher to its science team as vice president and head of genomic discovery. Dr. Pletcher comes to Autism Speaks from Pfizer, where he worked as director of medical genetics in the company’s Rare Diseases Research Unit.
In this role, Dr. Pletcher will lead MSSNG (pronounced “missing”), Autism Speaks historic collaboration with Google to create the world’s largest open-access genomic database.
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MSSNG: “What we know about autism is not enough; MSSNG is the search for the answers.”
“Throughout his career, Mat has demonstrated a passion for driving the science of the possible,” says Autism Speaks Chief Science Officer Rob Ring. “He has real-world experience in both industry and the non-profit sectors working to turn scientific breakthroughs into treatments for families in need.”
This week, Dr. Pletcher sat down to talk about his path to Autism Speaks and his goals for the year and years ahead.
Dr. Pletcher, you have a deeply personal connection to the world of parent-founded research and advocacy organizations. Please tell us about the foundation that you and your wife helped found.
Dr. Pletcher: Our daughter Finley was three when she was diagnosed with Leber’s congenital amaurosis, or LCA. We quickly learned that there are at least 20 different genetic causes of this progressive disease. Finley’s form is due to a mutation in the gene RDH12. Based on what is known about this type of LCA, Finley will likely lose her sight completely by her teenage years unless a treatment is developed.
The hopeful news is that gene therapy has produced tremendous results as a treatment for another genetic form this disease – one caused by a mutation in the gene RPE65. It’s been life-changing for children and even adults with RPE65 LCA. There is a striking video about an 8 year old boy, Corey Haas, who received the treatment. He had been functionally blind. After the treatment he’s riding a bike, playing a baseball and doing other things not possible beforehand.
Seeing that path and knowing that something was possible motivated my wife and I. Together with three other families of kids with same diagnosis, we formed our own foundation, the RDH12 Fund for Sight. We have raised over a million dollars for research that’s advancing a gene-therapy cure.
We’re getting tantalizing close to clinical trials – maybe one to three years away. This feels remarkable because at the time Finley received her diagnosis, we were facing a condition that invariably led to blindness. Now that destiny of blindness doesn’t look as certain for our daughter and other children. Now there’s reasonable belief that some level of vision is possible for them in the long term.
What I’ve come to see, as both a parent advocate and a researcher, is the tremendous power of parents motivated to advance research and treatment opportunities, to reshape the world that their children will be facing.
Beyond supporting research, there are also the more practical, personal aspects of this journey. Like families affected by autism, we find ourselves working with our child’s schools, with teachers and principals to help them understand what it means to support a child with special needs in the classroom. The school district we’re in had no experience working with students with vision loss. It has been a long process helping them understand what our daughter needs to function at her best and succeed.
Although I can’t know what it’s like to raise a child with autism, I would like to think that the road my family has traveled shares some of the same emotional challenges that families affected by autism experience every day. At the heart of it, we all want to look ourselves in the mirror and feel that we did everything we could to support our children and improve their futures.
Autism Speaks: The Autism Speaks community is passionate about supporting research that can deliver treatments. But families can also get frustrated by the pace of research. As a researcher who is also a parent wanting breakthroughs, what perspective can you share?
It’s that real push-pull between the desire of parents to deliver a treatment for their children and the desire of researchers to make sure they have a safe and effective treatment before ever giving it to someone’s child.
As a parent, that clinical trial is never close enough. With a degenerative disorder like LCA, we’re in a race against the clock. Our daughter has some usable vision left. But each day without a treatment means a little less vision that we’re likely to save. So, do we ever get frustrated with our research partners over the pace of the work? You better believe it.
At the same time, I’m acutely aware of the nature of scientific research. You think you have things well in hand and then you get an unexpected result. And if we are talking about a medicine that is going into a child, we can’t ignore the potential risks. We have to take the extra time to understand the unexpected result before we can push ahead again.
We’ve celebrated the progress. But time is always on our minds no matter how much we want to be patient and supportive of our research partners. It’s tough.
Autism Speaks: Your work in rare disease drug discovery must have been very rewarding. How did it lead you to Autism Speaks?
Dr. Pletcher: One of my greatest pleasures in rare disease drug development was the interaction and connection I made with the parents of affected children. It was another reminder for me of the power of the motivated parent.
The entire field of rare disease research is driven by advocacy groups founded by parents. It is largely because of these patient-focused groups that rare disease drug discovery has flourished in the last couple years. They are responsible for ground-breaking legislation that encouraged large pharmaceutical companies to invest more in treating rare diseases. In addition, direct investments by disease advocacy groups are ushering in new life-saving therapies.
All of us in our drug discovery unit were motivated by our patient families – every single day. They gave our work meaning. Once you form these personal connections, you feel like you’re all in it together. We knew the names of the children we were working for. I bring these relationships with me, as I continue to stay in contact with the families, getting updates about their journeys. It’s this desire to have a direct connection between the science I do and the people it serves that motivated me to join Autism Speaks.
Autism Speaks: In taking the reins of Autism Speaks’ genomic program, you will be guiding the historic creation of MSSNG, the world’s largest genomic database for open research. What are your goals for the program – this year and beyond?
Beyond the opportunity to work closely with a dedicated and motivated family-led advocacy group, what drew me to Autism Speaks is the science it’s driving. And MSSNG is the key.
At this early stage of the MSSNG program, we’re keeping our focus on delivering the core data – these whole genome sequences that are allowing us to build such a powerful genomics research platform. This will give us the power to advance our understanding of autism in significant and tangible ways.
We are building this platform to do two things:
First, we want to enable, engage and expand scientific research on autism. With a dataset and platform as powerful and enticing as MSSNG, we will go beyond giving current autism researchers critical new tools.
MSSNG is going to draw from the larger scientific community and bring much new expertise to autism research and our search for answers. Researchers in related fields are going to see this powerful open-access resource – a genomic resource that doesn’t exist anywhere else in the world – and become autism researchers. We will expand the brain power that’s being applied to finding treatments and improving quality of life for children and adults on the autism spectrum.
Second, we’re going to turn MSSNG’s data back around to empower the individuals and families who donated their genetic samples. We’re going to build a platform where families can explore the information in their own genomes. We’re going to make sure it helps them better understand their own diagnosis and journey.
MSSNG is going to allow them to connect with other individuals and families whose form of autism has the same genetic underpinnings as theirs. I see these communities sharing experiences and knowledge – a commonality that goes beyond the general diagnosis of autism.
In many ways, I relate this back to my family’s story around our daughter’s RD12 Leber’s congenital amaurosis. We started with this broader diagnosis that has many genetic causes. Not only does the outlook differ depending on the genetic cause of LCA, each person’s underlying genetic cause will determine the type of therapy that may make a difference.
So by identifying the genetic cause of our daughter’s specific form of LCA, we were able to connect with other families who were in the same boat. Only through understanding what was happening on the genetic level were we able to make the connections we needed, connections that have put us on the path to a potential cure.
We want to do something very similar for autism families. MSSNG will enable us to begin subdividing the catch-all term of “autism spectrum disorder” into much more precise subtypes based on genome sequencing, behavioral characteristics and other associated medical symptoms.
Not only will this give people a better understanding of what’s going on with themselves or their children, it will allow them to build the kind of network of support that my family has enjoying through our RDH12 community.
I want to thank Autism Speaks wonderful community of families, volunteers and donors for supporting this work.
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