But in late July, the Grace Science Foundation and a research team from Stanford piloted a novel way to accelerate this process: They organized a biospecimen collection party for patients with the rare NGLY1 genetic defect and their families, and they held the festive event in conjunction with their annual scientific conference.
In just a few days, the team collected health data and samples from 20 of the 36 living patients and members of their families, then cataloged them into a "lending library" of linked biological samples, genomic information and medical records. Now, any researcher interested in this or related defects can request access to this open-source data, accelerating the search for a cure.
NGLY1, or N-glycanase 1, is the gene that tells the body how to produce an enzyme that removes sugar molecules called glycans from misfolded proteins so that the proteins can be used in key biochemical processes. When a person doesn't produce enough of the enzyme, the process is severely disrupted. Shortly after birth, the affected individuals develop movement disorders, delayed growth, seizures, dry eyes and liver problems. Individuals with NGLY1 deficiency can't afford to wait the decades that it normally takes to find treatments for a newly discovered disease.
Patient recruitment and logistics were orchestrated by the Grace Science Foundation and a genetic counselor in the lab of Michael Snyder, PhD, professor and chair of genetics. Laila Craveiro, the event's nurse manager, oversaw the 18 nurses, phlebotomists, coordinators and physicians that it took to collect the 325 skin, urine, stool, blood and DNA samples.
"It was a challenging event," said Craveiro. "Two children had seizures. Many were in wheelchairs. At the end of weekend, we were bone-tired but happy to be a part of this significant event."
I describe more in this article in Inside Stanford Medicine.
Previously: At Medicine X, talking about owning one's data and about patient-tailored health care, New Yorker story highlights NGLY1 research and Crying without tears unlocks the mystery of a new genetic disease
Photo -- of Laila Craveiro, RN (center) flanked by phlebotomists Ciara Miranda (left) and Kristin Barone in Grace Science Foundation t-shirts -- by Kris Newby