Local Girl May Hold Key to Unlocking Certain Disorders and Diseases

SACRAMENTO (CBS) – Jordan Lang is an 11-year-old Sacramento girl who might hold the genetic key to helping doctors unlock the secrets of certain intellectual disabilities, autism, Alzheimer’s and cancer.

Doctors diagnosed Jordan with a neurological developmental delay when she was just 3, but it took until she was 9 for doctors to map her genome. When they did, they discovered Jordan had an undiscovered variation of a gene known as “PPP2R5D.”

Megan Cho, a genetic counselor at Maryland-based Gene DX, and her team connected the dots after realizing they’d seen a similar genetic variation in a handful of children around the world. As of now, only 28 children worldwide are known to have the same genetic variation.

“We realized they are really similar and their variants were all very similar, even though it’s a new disorder that hadn’t been described yet,” Cho told CBS13.

They turned to Dr. Wendy Chung, a world-renowned medical detective at the Columbia University Medical Center in New York. She only takes on the most difficult cases- the ones that have no answers.

Dr. Chung led a 2015 study that linked Jordan’s genetic variation to intellectual disability and autism. Now, doctors from hospitals including Columbia, Seattle Children’s Hospital, Vanderbilt and the University of Iowa are about to begin first-of-its-kind research into how the genetic variation can be treated, or even reversed. They believe the genetic variation found in Jordan may be linked to more than just neurological disorders.

Dr. Chung told CBS13, “exploring this particular molecule will have diverse outcomes, not just for autism and not even just for this genetic form of autism, but potentially for many other children.”

Doctors believe this research could finally bring answers for the millions suffering from autism, cancer and Alzheimer’s.

Jordan’s parents pledged to do anything they could to help move the study forward. Her father, Joe Lang, was stunned to learn the far-reaching impacts the research may have. “My initial thought was I’m coming here to help my daughter with research, but foundational research could have impacts in ways that are far beyond anything we had contemplated,” he said.

They know there is a long road ahead, but a cure now seems closer than ever.

Researchers estimate the study will take 6-10 years from start to finish and will cost upwards of $15-20 million to complete. Jordan’s parents are leading fundraising and awareness efforts. Their hope is raising awareness may lead to more children being diagnosed. Those children could potentially take part in the study and help researchers uncover more genetic links.

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