BC Children’s Hospital diagnoses young man with rare gene condition, world’s first patient

The 23-year-old from Syria has an unknown mutation to a gene that controls the production of a protein key to determining how immune cells function.  

Researchers at BC Children’s Hospital have diagnosed a young man with a genetic condition that nobody else in the world has.

Ebrahim Aldalati is the first person in the world to be diagnosed with a specific gene mutation condition.

The 23-year-old from Syria has an unknown mutation to a gene that controls the production of a protein key to determining how immune cells function.

The gene and protein have been studied for two decades in mice, but Aldalati is the first person in the world to be diagnosed as being totally deficient in NFAT1.

“People are doing this work because we realize we can now make these life-changing diagnoses,” said Dr. Stuart Turvey with the BC Children’s Hospital Research Institute.

“We are very good at it here at BC Children’s Hospital and we have been able to lead the world with this example.”

As a boy, Aldalati had a lot of trouble moving his knees, ankles, elbows and hips.

He would also get sick with a lot of fevers and colds and developed a rare form of cancer.