Changes (deletions or mutations) affecting the SYNGAP1 gene are a rare cause of developmental delay and intellectual disability. Monica Weldon, President and CEO of Bridge the Gap – SYNGAP Education and Research Foundation hosted the Inaugural SYNGAP1 Meet-Up at the Kennedy Krieger Institute in Baltimore last month with the hope of sharing new information about the research going into this ultra-rare genetic mutation.
Rare Disease Report
sat down with Weldon, mother to a son with this condition, to discuss why it’s so important for her to be able to communicate with other families affected by it.
How was the event? Did it meet your expectations?
: The meet-up was hugely successful. Initially, our goal was only to host 1 day of conference with some critical topics that we got out of a survey that we had sent our families earlier in the year, and we wanted to educate these people based on what they said they was important to them. Our first international conference, which took place about a year ago, had really high-level science, and while our families appreciated it, we needed our scientists to talk.
Why did you plan the meet-up? What were you looking for these families to learn?
: These families wanted to learn about was the science, the research, and the general biology of our disorder since it is ultra-rare and there is so little that is known about it, but they needed to be able to understand it. One of the top guys, Dr Richard Huganir from Johns Hopkins – he actually discovered the gene with Mary Kennedy in 1998 – is working on SYNGAP1, and he came and spoke with the families on a level where they could understand the direction that he was taking in his research, and touched on research being conducted at other facilities, as well.
Was there anything specific that you tried to put an emphasis on?
: One thing specifically that we wanted to make sure we covered at the meeting was simply “Genetics 101.” We felt that there was a need there because, once these families get a genetic report in their hands, they’ll go to a genetic counselor who deals with hundreds and thousands of diseases each year and doesn’t quite have the time necessary to understand this mutation that SYNGAP children actually have. So, we had a geneticist come in and talk about the different types of mutations, what “deletion” means, and what “nonsense” means, and it really opened the doors to having our families understand a little bit more about what research is necessary for us to find treatment options. It really helped determine why our researchers are focusing on both gene therapy and small molecules, or why the researchers aren’t using CRISPR yet; now these families can connect the dots. We also had a pharmaceutical representative come in to talk about drug development because, in reality, drug development takes an extensive amount of time. Of course, these families wanted their treatments yesterday, so we felt like we needed to give them more of a perspective on the process, and educate them on how we can get past these hurdles and eventually convince a pharmaceutical company to want to develop a drug for our patient population.
What information do you hope that the parents walked away from the meeting with that really made a difference?
: The theme of our meeting was “extreme parenting.” Our children are very difficult as it pertains to behavior and ABA, so a lot of these parents wanted tips on how we could deal with certain behaviors had by our children, because most of them are non-verbal; they act out because it’s the only way they can communicate. We had somebody from the Kennedy Krieger Institute to discuss ABA therapy, challenges, and techniques that these parents could use.
From a personal perspective, how do you measure success of an event like this?
: I’m the PI on the natural history study, or the registry, that we won from the National Organization for Rare Disorders (NORD) and Food and Drug Administration (FDA) and I presented some of the data to our families and pulled some interesting results that we found from our data. We ended up finding a new mechanism for the gene, and it’s in peer review right now, so I can’t say what it is. But the data exhibits how important people’s input really is, and how much we really need the information from people’s everyday lives, because that’s what drives the research. Without patients’ families answering the questions in the registry, and without getting the data analyzed by one of our scientists, we would never have discovered something new about this gene. As a special needs mom and a parent myself, it’s easy to be left in a position where you feel helpless. It was really exciting to see the families ask so many questions and be filled with information that left them empowered.
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