SUMMARY
Mayo Clinic researcher Jinghua Hu, Ph.D., uses disease models to investigate the role of cilia in human health and the pathogenesis of ciliopathies. In his Cilia and Ciliopathies Laboratory, Dr. Hu aims to uncover the mechanisms underlying cilia formation and function. He strives to better understand how ciliary dysfunction leads to disease, with an ultimate goal of developing therapeutic strategies for ciliopathies.
Dr. Hu's research focuses on how cilia dysfunction causes conditions such as polycystic kidney disease and syndromic ciliopathies including Joubert syndrome, Bardet-Biedl syndrome, nephronophthisis, and hydrolethalus syndrome. Additionally, Dr. Hu's lab investigates how primary cilia on stem cells regulate tissue homeostasis, particularly in fat and musculoskeletal development. His lab also explores the role of cilia in DNA damage responses, aging-related conditions, and neurodegenerative diseases in both mammalian cells and in vivo rodent models.
Dr. Hu's research has received continuous funding from the National Institutes of Health, the Department of Defense, and the Polycystic Kidney Disease Foundation for decades.
Focus areas
- Discovery biology research. Dr. Hu conducts discovery biology research in multiple focus areas, including:
- Cilia-regulated stem cell differentiation and proliferation.
- Cross talk between primary cilia and the nucleus.
- Identification and characterization of causal loci in ciliopathies.
- Role of primary cilia in triggering cellular senescence in damaged cells.
- Posttranslational modification of ciliary microtubules.
- Selective cilia trafficking of sensory receptors and signaling molecules.
- Synergistic interactions among ciliary signaling pathways.
- Disease-related research. Dr. Hu's disease-related areas of interest include:
- Aging-related conditions.
- Brain development and neurodegenerative diseases.
- Musculoskeletal developmental disorders.
- Obesity and monogenic metabolic disorders.
- Polycystic kidney disease, polycystic liver disease, and hepatorenal fibrosis.
- Syndromic ciliopathies.
Significance to patient care
Cilia are tiny, hairlike structures that stick out from the surface of cells. Primary cilia are important because they help cells sense and respond to their surroundings. This helps control many cell actions, such as how they grow, spread, and stay healthy.
There are more than 37 human conditions caused by changes in cilia. These conditions are called ciliopathies. Ciliopathies affect many parts of the body and cause different health issues. Even though cilia are very important for cell work, their role has only been widely recognized in the last 20 years. Scientists still don't fully understand how changes in cilia cause ciliopathies, and there are no cures or good treatments for most ciliopathies.
Dr. Hu's research aims to learn more about how ciliopathies develop, find and understand the causes of these conditions, and design treatments to prevent them or slow down or stop their worsening.
Professional highlights
- Member, Scientific Advisory Committee, Polycystic Kidney Disease Foundation, 2017-present.
- Co-director and director, Model Systems Core, Mayo Clinic Robert M. and Billie Kelley Pirnie Translational Polycystic Kidney Disease Center, Mayo Clinic, 2010-present.
- Team Science Award, Mayo Clinic, 2020.
- Co-director and director, Model Systems Core, Mayo Clinic Polycystic Kidney Disease P30 Center, National Institute of Diabetes and Digestive and Kidney Diseases, 2010-2020.