Genetic sequencing unravels rare disease mysteries

When Audrey Lapidus ’ 10-month old son, Calvin, didn’t reach normal milestones like rolling over or crawling, she knew something was wrong.“He was certainly different from our first child,” said Lapidus, of Los Angeles. “He had a lot of gastrointestinal issues and we were taking him to the doctor quite a bit.”Four specialists saw Calvin and batteries of tests proved inconclusive. Still, Lapidus persisted.“I was pushing for even more testing, and our geneticist at UCLA said, ‘If you can wait one more month, we’re going to be launching a brand new test called exome sequencing,’” she said. “We were lucky to be in the right place at the right time and get the information we did.”In 2012, Calvin Lapidus became the first patient to undergo exome sequencing at UCLA. He was subsequently diagnosed with a rare genetic condition known as Pitt-Hopkins syndrome, which is most commonly characterized by developmental delays, possible breathing problems, seizures and gastrointestinal problems.Though there is no cure for Pitt-Hopkins, finally having a diagnosis allowed Calvin to begin therapy. “The diagnosis gave us a point to move forward from, rather than just existing in that scary no-man’s land where we knew nothing,” Lapidus said.“Unfortunately, there are a lot of people living in that no-man’s land, desperate for any type of answers to their medical conditions,” said Dr. Stanley Nelson, professor of human genetics and pathology and laboratory medic...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news