Rare disease research can feel like an uphill battle. First of all, rare diseases have a harder time receiving funding. After that, it takes months or even years to have enough patient data to conduct a study.
There’s good news though. A new method is in the works that successfully built a biobank for NGLY1 in just a few days. If other initiatives follow suit, it could change the way we research diseases.
When Matt and Kristen Wilsey learned their daughter, Grace, was diagnosed with an N-glycanase 1 (or NGLY1) deficiency, they were understandably distraught. NGLY1 Deficiency is a rare genetic disorder that develops disrupts production of an important enzyme. To learn more about it, click here.
While so much is not understood about NGLY1, the Wilsey’s knew one thing. They had to take action. Since NGLY1 can cause devastating effects quickly, they didn’t have the time to wait for years and years, while research slowly trudged forward. They had to figure out a new and better way for the process to work altogether.
Together, the Wilsey’s established the Grace Science Foundation, a nonprofit aimed at curing NGLY1.
Matt, who worked for years as an entrepreneur in Silicon Valley, modeled the foundation after the fast-growing tech start ups. He built teams with the field’s leading minds. He used the same tools that had led to success in the tech industry to foster collaboration, sharing, and trust. If scientists working at separate institutions felt they could trust their peers, then they could cut out the months it takes to go the tradition research and publication route. They could get results faster.
The slowest part of any human-subject research is finding participants and collecting samples. The team put their brain power together and engineered a smoother, more stream lined way to collect health data and specimens from affected patients.
The Grace Science Foundation and collaborating scientists invited families with NGLY1 deficiencies to their conference in late July. Twenty out of the 36 living patients, in addition to members of their family attended the biospecimen collection event. Grace Science Foundation and the Stanford Team managed nearly twenty nurses, coordinators, phlebotomists, and physicians and collected 325 samples of biospecimens, such as skin, urine, and blood. It was no small feat. Two seizures occurred, and many of the patients were of varying levels of ability. However, the Stanford team, the Grace Science Foundation, the patients, their families all worked together to make a successful event that filled a biobank in record time.
Afterwards, lab technicians used a centralized sharing method to process all of the new data. The identifying information is removed, and the samples are logged in the biobank warehouse so that they can be easily retrieved.
It operates like an informational lending library. Researchers are able to search the catalogue and request specimens. Currently, there is work to make the data sets even more accessible to researchers. The idea is that this open form of information sharing will speed up the discoveries and advancements.
This is a huge stride forward towards curing NGLY1. It also impacts other diseases, since the NGLY1 gene impacts cell metabolism. This event also provides a template other organizations can build from, as researchers around the world work together to cure rare diseases faster.