Sheng Chih (Peter) Jin, PhD

Google Scholar Profile | Jin Lab

Research Interests

Decoding the Hidden Genetic Architecture of Human Disease

Why do patients with strongly genetic diseases remain genetically unexplained?

This question lies at the heart of our research. Despite remarkable advances in genomic medicine, many patients with compelling genetic disorders remain without a molecular diagnosis. We believe that some of these missing explanations lie in genetic dark matter, forms of genetic variation, inheritance, and molecular regulation that are poorly captured by conventional genomic analyses and simple Mendelian models.

We study deeply phenotyped patients with cardiovascular, neurological, and undiagnosed disorders to uncover this hidden genetic architecture. By integrating human genetics, computational genomics, short- and long-read sequencing, multi-omics, and functional genomics, we seek to move from unexplained phenotype → genetic discovery → molecular mechanism → biological insight.

Our goal is not simply to identify disease-associated variants, but to make human disease genetically and biologically interpretable, improving molecular diagnosis, revealing disease mechanisms, and identifying new opportunities for prevention and therapy.

We work closely with the clinicians, patients, and research networks, including Pediatric Cardiac Genomics Consortium, the Peripheral Neuropathy Research Registry, the Gabriella Miller Kids First Pediatric Research Program, and the WashU Undiagnosed Diseases Network

A negative genome is not necessarily the absence of a genetic explanation. It may mean that we have not yet learned how to ask the genome the right question.

If you think any of this sounds cool, consider joining us in working to make the world a better place.

Latest News

Novel tool uncovers a common genetic cause of peripheral neuropathy  (Links to an external site)

The Record May 18, 2026

Researchers at WashU Medicine and collaborating institutions have developed a novel computational tool that can accurately identify a genetic problem in a gene called RFC1 that is linked to certain forms of peripheral neuropathy. Peripheral neuropathy is one of the most common neurological disorders and can cause pain, sensory loss, imbalance and weakness. It affects 12–20% of all people in the U.S. and can affect up to 30% of adults over age 65. The new research is published in Annals of Neurology.

Graduate student Purva Patel earns full scholarship to attend prestigious St. Jude Graduate Symposium

By Eliza Gan February 3, 2026

Purva Patel, a third-year graduate student in the Jin lab, has been awarded a full scholarship to attend the 2026 St. Jude National Graduate Student Symposium, a highly selective national meeting for outstanding biomedical science trainees.

Zefan (Vivien) Li Named WashU Pivot 314 Fellow

By Eliza Gan January 30, 2026

Zefan (Vivien) Li, a third-year graduate student in the Jin lab, has been selected for the 2026 cohort of Washington University in St. Louis’s Pivot 314 Fellowship, a competitive program that supports emerging leaders across disciplines.

Graduate Student Emma Casey Awarded Prestigious CMB T32 Training Grant

By Eliza Gan August 29, 2025

Graduate student Emma Casey of the Jin lab has been appointed to the Cellular and Molecular Biology (CMB) T32 Training Grant, a competitive program funded by the National Institute of General Medical Sciences (NIGMS) at the National Institutes of Health (NIH).

Graduate student Emma Casey awarded NINDS Diversity Supplement

By Eliza Gan January 31, 2025

Emma Casey, a second year PhD student in the Jin lab has been awarded a highly competitive NINDS Diversity Supplement to work on characterizing and assessing the impact of mitochondrial DNA variations in congenital hydrocephalus. Emma is the first trainee from the Department of Genetics to receive the significant 3-year NIH grant award totaling $225K. Congratulations!