By the time her mother received the doctor's email, Yuna Lee was already 2 years old, a child with a frightening medical mystery.

Plagued with body-rattling seizures and inconsolable crying, she could not speak, walk or stand. ''Why is she suffering so much?'' her mother, Soo-Kyung Lee, wanted to know.

Brain scans, genetic tests and neurological exams had yielded on answers. But when an email popped up suggesting that Yuna might have a mutation on a gene called FOXG1, Soo-Kyung froze.

''I knew,'' she said, ''what that gene was''.

Almost no one else in the world, would have had any idea. But Soo-Kyung is a specialist in the genetics of the brain - ''a star,'' said  Robert Riddle, a program director in neurogenetics  of the  National Institute of  Neurological Disorders  and Stroke.

For years  Soo KKyung, a developmental biologist at Oregon Health and Science University, had worked with FOX family of genes.

''I Knew how critical FOXG1 is for brain development,'' she said.

She also knew harmful FOXG1 mutations are exceedingly rare and usually not inherited - the gene mutates spontaneously during pregnancy. Only 300 people worldwide are known to have FOXG1  syndrome, a condition designated a separatist disorder relatively recently.

The odds that her own daughter would have it were infinitesimal.

''It's an astounding story,'' Dr. Riddle said. ''A basic researcher working on something that might help humanity, and it turns it directly affects her child.''

Suddenly, Soo-Kyung, 42 and her husband Jae Lee, 57, another genetic specialist at O.H.S.U. had to transform themselves from dispassionate scientists into parents of a patient, desperate for answers.

They were plunged into a fast-moving ocean of newly identified gene mutations, newly named diagnosis and answers that raise new questions.

The newfound capacity to sequence genomes is spurring a genetic gold rush, linking mystifying  diseases to specific mutations - often random mutations not passed down from parents.

New research shows that each year, about 400,000 babies born worldwide have neurological disorders caused by random mutations, said Matthew Hurles head of genome genetics at Wellcome Trust Sanger Institute.

As sequencing become cheaper, more children will receive diagnoses like FoxG1 syndrome, doctors say.

These discoveries might eventually help doctors treat treat or prevent some brain damage. ''We used to lump them all together under autism or another category,'' said Dr. Joseph Gleeson, a neurogeneticist at University of California, San Diego.

''It's really changing the way doctors are thinking about the disease.''

Balancing the missions of science and motherhood, Soo-Kyung has begun doing what she is uniquely positioned to do : aiming research squarely at her daughter's disorder.

The Sad Honor and Serving of the latest Global Operational Research on Diseases, Genetics and Research Scientists continues to Part 2. !WOW! thanks author and researcher Pam Belluck.


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