Center for Metabolic and Liver Diseases - Sanford Burnham Prebys

Center for Metabolic and Liver Diseases

liver cell

A Menace in the Multitudes

The rising prevalence of metabolic disorders in the United States and around the world is alarming, especially those conditions that affect the liver—central to metabolic health. 

One in three American adults has metabolic syndrome, a group of conditions that includes coronary heart disease, diabetes and stroke. Liver disease is equally prevalent. It’s estimated that 20-30% of adults in the U.S. have metabolic-dysfunction associated steatotic liver disease (MASLD) and 5-10% have the more severe form called metabolic-dysfunction associated steatohepatitis or MASH, which can lead to scarring (cirrhosis), liver cancer and organ failure. 

Worldwide, the estimated prevalence of MASLD is 38%.

Our goal is to identify and interpret the underlying causes and drivers of metabolic and liver diseases, a continuum of research that includes basic intracellular signaling, metabolic translational research, human physiological studies and clinical trials. 

Literally millions of people endure or face lives of chronic poor health, diminished well being and eventual death from metabolic diseases. Current therapeutic options are limited, ineffective or don’t exist at all. We want to change that. 



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Center for Metabolic and Liver Diseases

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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Dardas Z, Harrold L, Calame DG, Salter CG, Kikuma T, Guay KP, Ng BG, Sano K, Saad AK, Du H, Sangermano R, Patankar SG, Jhangiani SN, Gürsoy S, Abdel-Hamid MS, Ahmed MKH, Maroofian R, Kaiyrzhanov R, Salayev K, Jones WD, Pérez Caballero A, McGavin L, Spiller M, Durkie M, Wood N, O’Grady L, Goldenberg P, Neumeyer AM, Begtrup A, Abdel-Ghafar SF, Zaki MS, Van Esch H, Posey JE, Wenger OK, Scott EM, Bujakowska KM, Gibbs RA, Pehlivan D, Marafi D, Leslie JS, Ubeyratna N, Day J, Owens M, Settle J, Balkhy S, Tamim A, Alabdi L, Alkuraya FS, Takeda Y, Freeze HH, Hebert DN, Lupski JR, Crosby AH, Baple EL

Am J Hum Genet 2025 May 1 ;112(5):1139-1157