Scolar discovers rare gene mutation

The biologist from Iran came to Care-for-Rare as a doctoral student with a current case: a brother and sister suffered from a severe bone marrow dysfunction. The cause was unknown, but Ehsan pursued a hunch. In the course of his work, he found an inherited mutation in a gene called MYSM1, and his discovery had consequences: For the siblings, his findings led to the development of a life-saving therapy.

“Discovering a new mutation that leads to human bone marrow failure and describing this disease for the first time was a major achievement. But the biggest was going directly from laboratory findings to curing patients,” Ehsan comments on his success.

Ehsan was funded as a fellow by the Care-for-Rare Foundation from 2014 to 2017.