2011 Pulitzer Prize turned out to be my daily inspiration.

I never posted anything personal on this blog. It’s time to do publish a personal piece.

A reader from Hungary (and likely future collaborator) asked me why I decided to write about genetics.

Beyond being a scientist, so genetics is my bread and butter, my inspiration comes from the 2011 Pulitzer Prize in Explanatory Reporting by Kathleen Gallagher and Mark Johnson – two great reporters. Gallagher heard about doctors using genetic sequencing to crack the mystery behind an illness slowly killing a boy.

The piece won the Pulitzer Prize for explanatory reporting in 2011. Gallagher and Johnson shared the prize with photographer Gary Porter, videographer Allison Sherwood and graphic artist Lou Saldivar.

The work done by the Children’s Hospital of Wisconsin and the Medical College of Wisconsin pushed into new realms, turning to sequencing for answers to a young boy’s mysterious and life-threatening medical condition. The boy had severe bowel problems that included several abscesses, fistulas and deep fissures that were prone to infection. He was first brought into the hospital when he was just 15 months. He underwent more than 100 surgeries by the time he was 3.

At first he was thought to have Crohn’s disease, but years of treatment did little for his symptoms, which got worse. Eventually doctors decided to take a broad exome sequencing approach — where only the gene-coding regions of the genome are sequenced — to diagnose and possibly treat his illness. Doctors and researchers painstakingly narrowed down the possible gene mutations responsible for his illness from 16,124 to just one. Now the boy is being treated to maintain his health after receiving a cord blood transplant that the doctors believe will address the damage cause by that single mutation.

Single-gene disorders are rare, but collectively they affect as many as one in 10 people in the United States alone.

This story affected my understanding of genetics – and of life – forever. 

 

 

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