Dr. Shu Wen from Baylor College of Medicine awarded $70,000 Knights Templar Eye Foundation Grant for Cone/Rod Dystrophy Research

Dr. Shu Wen from Baylor College of Medicine, Houston, Texas was awarded a $70,000 grant for his research entitled: Combining short and long-read sequencing to detect noncoding and structural variants in cone/rod dystrophy patients.

Cone dystrophy (COD) and cone/rod dystrophy (CRD) are both inherited eye diseases. They often occur in childhood or at birth, and can significantly decrease vision, but with Sanger sequencing and capture-sequencing technology, the diagnostic tools currently used by most genetic laboratories, disease-causing variants can only be detected in about one-third of the cases.

In a cohort of COD/CRD patients, they will combine the cutting-edge short and long-read wholegenome sequencing to investigate the noncoding and structural genetic variants, which are both often missed by current Sanger sequencing and capture-sequencing technologies. The genetic testing pipeline which will be built in this study may also be used to study other genetic diseases in the future.