Rochester, Minnesota


Niu.Zhiyv@mayo.edu Clinical Profile


The research activities of Zhiyv (Neal) Niu, Ph.D., focus on clinical molecular genetics with special interest in neuromuscular and neurodegenerative diseases. As the director of the Clinical Genomics Sequencing Laboratory in the Department of Laboratory Medicine and Pathology, Dr. Niu leads a team to build and expand clinical sequencing technologies to improve patient care.

Dr. Niu also leads the neurogenetics subdiscipline in the Division of Laboratory Genetics and Genomics. Dr. Niu's research interests include characterizing genetic disorders and developing applications to expedite bench-to-bedside translation in neurogenetic diseases.

Focus areas

  • Neurogenetics diagnostics and natural history
  • Genetic therapeutics and biomarker development
  • Clinical genome sequencing

Significance to patient care

The purpose of Dr. Niu's research is to improve the care of patients with genetic disorders. His research aims to expedite the diagnostic process. Additionally, Dr. Niu's research aims to improve patient care by studying the pathophysiology of these diseases and pursuing the identification of new therapeutics and biomarkers for disease monitoring.

Professional highlights

  • Member, American College of Medical Genetics and Genomics
    • Rapid Communications Subcommittee, 2021-present
    • Therapeutics Committee, 2019-present


Primary Appointment

  1. Consultant, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology

Joint Appointment

  1. Consultant, Department of Clinical Genomics, Mayo Clinic Enterprise

Academic Rank

  1. Assistant Professor of Laboratory Medicine and Pathology


  1. Fellow - Clinical Molecular Genetics/ABMGG Baylor College of Medicine
  2. PhD Baylor College of Medicine, Department of Medicine, DeBakey Heart Center
  3. BS Peking University

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