Gerald Downes: Solving Biological Puzzles to Save Lives
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I’m a neuroscientist and, like most scientists, I really enjoy solving puzzles, especially biological ones. My lab uses zebrafish to study how genes and brains control movement. For example, some of the fish we study perform hyperactive, uncoordinated swimming resulting from mutation of an unknown gene. We explored this biological puzzle and eventually figured out which gene is mutated. We then discovered that people with that mutated gene have epilepsy.
More recently my research has taken a different direction.
My daughter Mila was born in March 2016.
She was born with beautiful milk-chocolate colored skin that is decorated with several caramel-colored birth marks. My wife, a pediatric ER doctor, wanted to know more about these birth marks. After visiting a dermatologist and a neurologist, we learned that Mila has Tuberous Sclerosis Complex (TSC), a brain-skin disorder that affects other organs as well.
Initial Google searches on the disorder were terrifying. I learned that about 80% who have TSC have epilepsy and some can only be treated by removing parts of the brain. I saw pictures of disfiguring tumors that can occur across the face. I read that TSC has a high comorbidity with autism, intellectual disability, behavioral problems, lung problems that sometimes require lung transplants, heart problems, kidney problems. It just didn’t stop.
When we finally spoke with our neurologist, we were beyond relieved to know that few TSC cases have all the symptoms; there’s a huge range in disease severity so that some who have it it’s not detected until adulthood or even old age.
We got hope.
I also learned that there’s a large, active body of researchers studying TSC. So, while treatment options are currently very limited, there’s great promise for the future of treatment options.
That really comforted me in a way that I didn’t expect.
Mila’s doing great now. She’s everything I could hope for- smart, sassy, kind, beautiful. If you were to meet her, she’d want you to know that she’s mastered the monkey bars and riding her bike without training wheels. We appreciate how lucky we are. Mila is amazing and she has the best big brother.
My experience with TSC has shifted the focus of my lab and has deepened the motivation behind my research. I don’t study TSC in my lab, but I could. In fact, I have the resources and the expertise to work on TSC. But that’s a line I’m not willing to cross. What if I were to discover something awful about Mila’s mutation?
Instead, I’m studying a disorder called TBCK Syndrome, another awful neurogenetic disorder, which frequently causes epilepsy, is typically lethal, and currently has no treatment options.
It seems to disrupt the same biochemical pathway as TSC, so I like to think about it as being TSC-adjacent, and that feels like a nice space for me.
I’ve met several TBCK parents, and I can understand how scared they must be.
So, I want for my work to be able to provide these parents and their sons and their daughters the kind of hope and comfort that I receive from knowing that there are scientists working hard to solve this specific biological puzzle.
To learn more about Gerald Downes' lab, visit the Downes Laboratory website.