Sheng Chih (Peter) Jin, PhD

Sheng Chih (Peter) Jin, PhD

Assistant Professor of Genetics and Pediatrics

Google Scholar Profile | Jin Lab

Research Interests

We are currently working on the following areas of research:

Methods Development

Human diseases, particularly complex ones like congenital heart diseases, neurodevelopmental disorders, and rare undiagnosed conditions, arise from the intricate interplay of genetic and environmental factors. Conventional investigative approaches often rely on simplistic inheritance models, focusing solely on germline or somatic variations. This approach overlooks the intricate interrelationships between these elements. To bridge this knowledge gap, we are developing advanced computational tools and statistical models capable of identifying and characterizing complex inheritance patterns. These encompass single nucleotide variants, uniparental disomy, short tandem repeats, mobile element insertions, mitochondrial DNA variants, and other structural variations. Our goal is to integrate and analyze germline and somatic variants, leveraging multi-omics data such as short-read sequencing, long-read sequencing, transcriptomics, and proteomics. This comprehensive approach aims to redefine our understanding and approach to studying and addressing complex diseases.

Unravelling Molecular Signatures and Novel Therapeutic Targets for Idiopathic Peripheral Neuropathy

Idiopathic peripheral neuropathy (IPN), a result of damage to the peripheral nerves with unknown causes, is a debilitating, painful, and as-yet-untreatable condition. Due to the unknown origin of the damage and the lack of targeted therapy, treatment for patients with IPN revolves around mere symptom management. In collaboration with Drs. Jeffrey MilbrandtAhmet HokeAaron Di Antonio, and the Peripheral Neuropathy Patient Registry, we are integrating whole-genome sequencing and SOMAscan proteomic data in extreme IPN patients with negative clinical genetic screening results and performing bioinformatic analysis to identify variants, pathways, and biomarkers for pathophysiological clues to axon degeneration.

Genomic Research of Cerebral Palsy and Dystonia

In collaboration with Drs. Michael KruerCarlos Cruchaga, the Dystonia Coalition, and the Cerebral Palsy Research Network, we are applying an integrative, multidimensional omics approach to a large, well-phenotyped cerebral palsy/dystonia cohort to catalyze gene discovery, provide mechanistic insights into newly identified genetic causes, make genotype-phenotype correlations, and create a metadata ecosystem freely available to the cerebral palsy/dystonia community.

Human Genetics and Molecular Mechanisms of Human Neurological Diseases

In collaboration with Drs. Kristopher KahleKristen KrollJoe Dougherty, and the WashU Undiagnosed Diseases Network, we are focusing on studying the genetic underpinnings of rare Mendelian forms of human neurological diseases, using whole-genome sequencing, quantitative phenotyping, transcriptomic profiling, massively parallel reporter assays, and in vitro/in vivo models.

Latest News

Sheng Chih (Peter) Jin, PhD

Collaborative Study Led by Graduate Student Reveals New Discoveries on Rare Disease

A new study led by WashU graduate student Shujuan Zhao, co-mentored by Dr. Sheng Chih (Peter) Jin, Assistant Professor of Genetics and Pediatrics, Washington University School of Medicine, and Dr. Kristopher T. Kahle, Director of Pediatric Neurosurgery, Massachusetts General Hospital, sheds light on new genetic mutations related to the disease and validations of the identified genes in mouse and zebrafish models. This collaborative work was recently published in Nature Communications.
Sheng Chih (Peter) Jin, PhD

Cerebral palsy also has genetic underpinnings (Links to an external site)

Now, scientists have identified mutations in single genes that can be responsible for at least some cases of cerebral palsy, according to a new study led by researchers at Washington University School of Medicine in St. Louis, the University of Arizona College of Medicine in Phoenix, and Yale University.