Clinicians, researchers and advocates for diseases rare and common met at the White House for a day of science and bowling on Friday, December 16th in honor of NGLY1 patient Bertrand Might’s 9th birthday.
At the start, the scientists took turns discussing their research results for NGLY1 deficiency and rare disease more broadly. Dr. Hudson Freeze discussed efforts to identify a cellular phenotype for the disorder. Dr. Clement Chow presented his results on rescuing NGLY1-deficiency flies and on identifying other modifiers for the disorder with his lab’s special approach to genetic screens — an approach which can be generalized to other diseases. Dr. Andrea Bild presented her efforts on refocusing her cancer genomics pipeline from identifying treatments for cancer patients to identifying treatments for rare genetic diseases. And, Dr. Kuby Balagurunathan shared the results of his computational screening approach to identify FDA-approved drugs that may be able to treat NGLY1 deficiency.
Participants then assembled in the White House bowling alley to celebrate Bertrand’s birthday and to extend collaborations that will accelerate progress toward understanding, treatment and cure of NGLY1 deficiency over cake, gutter balls, spares and strikes.