Oceanside High School senior is Intel semifinalist

Advances in national science competition with study of disorder created by incomplete chromosome

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Hard work paid off for Oceanside High School senior Emma McLaughlin, who has made it to the semifinals of the 2016 Intel Science Talent Search.

“I was very surprised to hear it, actually,” said McLaughlin, 17. “I was not expecting to win anything.” She had joked that she should just be proud to receive a T-shirt from Intel for taking part in the contest.

In the nationwide competition, high school students conduct original, independent scientific research. Each of the 300 semifinalists wins $1,000 and an additional $1,000 for his or her school. Forty finalists will be named on Jan. 20, and will travel to Washington, D.C., in March to compete for $1 million in prizes.

McLaughlin researched 22q11.2 Deletion Syndrome (also known as DiGeorge Syndrome), in which a portion of the 22nd chromosome is missing from a person’s genetic code.

“It’s really not a well-known syndrome, but it’s kind of similar to Down syndrome,” she said. No two cases are alike, but the varying symptoms include congenital heart disease, cleft palate, hearing loss and learning disabilities. The syndrome occurs in about 1 in 3,000 births.

“There’s no set list of symptoms,” McLaughlin said, “because you can have different symptoms that are associated with the same disorder.”

In her research, she used computer programs to sequence genetic codes to see if additional mutations or deletions of other chromosomes help determine what symptoms occur in a person with the disorder. “So, having both this deletion and a deletion somewhere else could be … the reason that there’s congenital heart disease in one person and not in another,” she said.

McLaughlin began her research two summers ago at the Morrow Lab at the Albert Einstein College of Medicine in the Bronx, under the supervision of Bernie Morrow, Ph.D., and post-doctoral student Ting Wei Guo. “I actually loved working at the lab,” she said. “I met such great people and made such great friends.”

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