Family groups, researchers join forces to solve mysteries of autism gene

In a home video, 9-year-old Beckett giggles with delight as his family’s puppy, Coco, nips at his fingers. The dog chomps down again and again, eventually drawing blood, but Beckett does not stop smiling. Monica Weldon, Beckett’s mother, can be heard from behind the camera, crying out in disbelief, “How is that funny? That hurts!”

Beckett, now 11, has been unusually tolerant of pain for most of his life. He never cried after accidental burns or falls, his mother says. When he was 4, he broke his pinky finger while playing catch with his twin sister, Pyper, and his parents didn’t even realize he was hurt until his finger turned blue — four days later.

That same year, doctors discovered by coincidence that Beckett has a mutation in a gene called SYNGAP1, which is crucial for neurons to communicate. This was in 2012, and mutations in the gene had only just been linked to autism, intellectual disability and epilepsy — all of which Beckett has. Today, SYNGAP1 is near the top of the list of genes associated with these conditions.

Over the past five years, several studies have contributed to a better understanding of traits linked to mutations in the gene, along with promising leads for treatments. Some of this research has been driven by families with the mutations, who have raised funding and helped scientists recruit participants for their studies.

Bridge the Gap, a group Weldon founded, created a registry in 2016 that has enrolled more than 200 such people. Another family-run group, called the SynGAP Research Fund, has awarded more than $700,000 for research in the past year.

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