|Bertrand's schedule for June 9 through June 13, 2014.|
The National Institutes of Health (NIH) is the medical research agency of the United States of America. Tomorrow, Bertrand and Matthew are headed there to support two separate research studies and push science forward for patients with N-glycanase deficiency:
"Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation"
The NIH team will be completing careful phenotyping across all the NGLY1 families. They will also be able to follow everyone over time to conduct a natural history study. Those pieces together will be key for the researchers validating what they are seeing in cells and the animal models. This is a key step toward a therapy. NIH also has some research capabilities that are different from things being done elsewhere. This study should help establish the spectrum of phenotypes for NGLY1.
"Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic Disorders"
The NIH team will use blood, urine and CSF in very small quantities to assess glycomics, lipodomics, proteomics & metabolomics. They will assess family samples when available, because that provides much more insight into what may be normal in a given family versus what is odd and needs further analysis. According to the NIH, this is not the way many “omics” are analyzed elsewhere and has the potential to identify biomarkers that might help understand how deglycosylatin defers from glycosylation and why some of NGLY1 patients have evidence of mitochondrial dysfunction.
Some blog readers may remember that Bertrand went to the NIH back in 2009. While that visit didn't provide much medical information, Bertrand managed to fall in love with Hannah which made the trip worth it. :)