Innovative UW Undiagnosed Genetic Disease Clinic seeks to identify rare genetic conditions

The UW Center for Human Genomics and Precision Medicine at the UW School of Medicine and Public Health recently opened its first patient clinic, the UW Undiagnosed Genetic Disease Clinic at the Waisman Center. The clinic, one of 11 specialty clinics at the Waisman Center, is for people with undiagnosed genetic diseases, creating a vital local hub in a global community of experts dedicated to solving medical mysteries with state-of-the-art technologies for people whose conditions remain undiagnosed despite an extensive prior clinical workup.

A new computational pipeline connects disease and discovery at the cellular level

Could Alzheimer’s disease and schizophrenia be biologically connected?  A new computational model, scGRNom (single-cell Gene Regulatory Network prediction from multi- omics), developed by researchers at the University of Wisconsin-Madison, harnesses the power of multi-omics and …

Second seat in Waisman cluster hire filled by neuroscientist André Sousa

Sousa is the second hire in the cluster initiative that includes a biostatistician, a neuroscientist, and a geneticist. The cluster will serve as a nucleus to integrate research, training, and clinical services in the human genomics research area at the Waisman Center. Waisman director Qiang Chang says he is very happy to have Sousa join the Waisman team.

Schizophrenia: Illuminating a potential treatment and gene regulation

A new study from the lab of Waisman investigator Xinyu Zhao, PhD, brings us one step closer to identifying treatments for psychiatric disorders like schizophrenia (SCZ) and illuminates the role of a specific gene in regulating the disorder.  “Regulation of Cav3.2 by schizophrenia risk gene FXR1 is critical for interneuron functions and social behaviors” was published in the journal Molecular Psychiatry in April. The study also identifies a specific gene as the regulator of a type of neurons that plays a critical role in the pathogenesis of certain psychiatric disorders.

The identities of enzymes: study further defines the function of a potential target for Alzheimer’s therapy

A new study from the lab of UW-Madison professor of medicine Luigi Puglielli, MD, PhD, opens a door to potential treatments for diseases of age, such as Alzheimer’s disease, by defining the roles of two enzymes that are imperative to protein production. “Endoplasmic reticulum acetyltransferases Atase1 and Atase2 differentially regulate reticulophagy, macroautophagy and cellular acetyl-CoA metabolism” was published in April in the journal Communications Biology.