Sanfilippo syndrome type B is a rare metabolic disorder, where a child’s body is unable to break down certain carbohydrates. Without the gene necessary to break down heparan sulfate, this sugar molecule can build up in cells and damage organs as well as affect growth and mental development. Average life expectancy for someone with Sanfilippo syndrome type B is about 15-20 years and has been described as childhood dementia. While there is no current treatment for Sanfilippo syndrome type B, scientists and researchers have been working on this problem for nearly 30 years.
Based on numerous samples from Coriell’s NIGMS Human Genetic Cell Repository biobank, Elizabeth Neufeld and her lab at UCLA published a series of papers from 1996 through 2009 detailing the basis of Sanfilippo syndrome type B, the underlying mutations of the disease[1], identifying five mutations in cells of patients with Sanfilippo syndrome type B, as well as discovering that Sanfilippo syndrome type B is a tauopathy[2], a class of neurodegenerative disorders characterized by neuronal and/or glial tau-positive inclusions. This research has led to the possibility that new drugs created for Alzheimer’s disease could present an effective therapy for this disorder as well.
Since the founding of the NIGMS Human Genetic Cell Repository in 1972 at Coriell, this biobank has been home to some of the world's most important cell lines, representing a variety of disease states, chromosomal abnormalities, and many distinct human populations. Coriell is also home to four other NIH-funded biobanks, distributes thousands of samples every year, and offers world-class research and biobanking services to scientists around the globe.
To learn more about our biobank collections, visit coriell.org/1/Browse/Biobanks.
[1] Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF. The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):6101-5. doi: 10.1073/pnas.93.12.6101. PMID: 8650226; PMCID: PMC39196.
[2] K. Ohmi, L.C. Kudo, S. Ryazantsev, H. Zhao, S.L. Karsten, & E.F. Neufeld, Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy, Proc. Natl. Acad. Sci. U.S.A. 106 (20) 8332-8337, https://doi.org/10.1073/pnas.0903223106 (2009).
