Mark A. Kay is an American physician-scientist recognized for his contributions to the field of

gene therapy Gene therapy is Health technology, medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells. The first attempt at modifying human DNA ...

genome editing Genome editing, or genome engineering, or gene editing, is a type of genetic engineering in which DNA is inserted, deleted, modified or replaced in the genome of a living organism. Unlike early genetic engineering techniques that randomly insert ge ...

, and

RNA Ribonucleic acid (RNA) is a polymeric molecule that is essential for most biological functions, either by performing the function itself (non-coding RNA) or by forming a template for the production of proteins (messenger RNA). RNA and deoxyrib ...

biology. He has an

h-index The ''h''-index is an author-level metric that measures both the productivity and citation impact of the publications, initially used for an individual scientist or scholar. The ''h''-index correlates with success indicators such as winning t ...

of 123, and is known for liver-directed gene therapy, demonstrating RNA interference in mammals, and advancing adeno-associated virus (AAV) vector biology.

Education

Kay earned his B.S. in Physical Sciences from Lyman Briggs College at

Michigan State University Michigan State University (Michigan State or MSU) is a public university, public Land-grant university, land-grant research university in East Lansing, Michigan, United States. It was founded in 1855 as the Agricultural College of the State o ...

in 1980, and his M.D. and Ph.D. in Developmental Genetics from

Case Western Reserve University Case Western Reserve University (CWRU) is a Private university, private research university in Cleveland, Ohio, United States. It was established in 1967 by a merger between Western Reserve University and the Case Institute of Technology. Case ...

in 1987. He completed a pediatric residency, medical genetics fellowship, and postdoctoral fellowship at

Baylor College of Medicine The Baylor College of Medicine (BCM) is a private medical school in Houston, Texas, United States. Originally as the Baylor University College of Medicine from 1903 to 1969, the college became independent with the current name and has been se ...

in 1993.

Career and research

Kay began his work in

in 1990. He was a founding member of the

American Society of Gene and Cell Therapy American Society of Gene & Cell Therapy (ASGCT) is a professional non-profit medical and scientific organization based in Milwaukee, dedicated to understanding, development and application of gene, related cell and nucleic acid Nucleic acids are ...

(ASGCT) in 1996 and served as its Vice President, President-Elect, and President from 2003 to 2006. He played a role in establishing the society’s journal, '' Molecular Therapy'', and advancing gene therapy research during a period of skepticism. Kay has been a long-time editor of '' Human Gene Therapy''. His research has led to advances in gene transfer mechanisms, vector biology, and gene regulation. He demonstrated the correction of

Hemophilia B Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII defic ...

in a large animal model and filed the initial

Investigational New Drug The United States Food and Drug Administration's Investigational New Drug (IND) program is the means by which a pharmaceutical industry, pharmaceutical company obtains permission to start human clinical trials and to ship an experimental drug inte ...

(IND) application for systemic administration of recombinant AAV in humans. Kay’s team demonstrated functional

RNA interference RNA interference (RNAi) is a biological process in which RNA molecules are involved in sequence-specific suppression of gene expression by double-stranded RNA, through translational or transcriptional repression. Historically, RNAi was known by ...

(RNAi) in whole mammals. His research has also explored

microRNA Micro ribonucleic acid (microRNA, miRNA, μRNA) are small, single-stranded, non-coding RNA molecules containing 21–23 nucleotides. Found in plants, animals, and even some viruses, miRNAs are involved in RNA silencing and post-transcr ...

(miRNA)-mediated gene repression,

tRNA Transfer ribonucleic acid (tRNA), formerly referred to as soluble ribonucleic acid (sRNA), is an adaptor molecule composed of RNA, typically 76 to 90 nucleotides in length (in eukaryotes). In a cell, it provides the physical link between the gene ...

-derived small RNAs, and their applications in

cancer Cancer is a group of diseases involving Cell growth#Disorders, abnormal cell growth with the potential to Invasion (cancer), invade or Metastasis, spread to other parts of the body. These contrast with benign tumors, which do not spread. Po ...

therapeutics.

Academic and professional roles

From 1993 to 1998, Kay was a faculty member at the

University of Washington The University of Washington (UW and informally U-Dub or U Dub) is a public research university in Seattle, Washington, United States. Founded in 1861, the University of Washington is one of the oldest universities on the West Coast of the Uni ...

in the Division of Medical Genetics, Department of Medicine. In 1998, he was recruited to

Stanford University Leland Stanford Junior University, commonly referred to as Stanford University, is a Private university, private research university in Stanford, California, United States. It was founded in 1885 by railroad magnate Leland Stanford (the eighth ...

, where he currently serves as the Dennis Farrey Family Professor in the Departments of

Pediatrics Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, Adolescence, adolescents, and young adults. In the United Kingdom, pediatrics covers many o ...

and

Genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian ...

and as Head of the Division of Human Gene Therapy in Pediatrics. He co-founded Avocel Inc., Voyager Therapeutics, and LogicBio Therapeutics.

Honors and recognition

Kay was elected to the

National Academy of Inventors The National Academy of Inventors (NAI) is a US non-profit organization dedicated to encouraging inventors in academia, following the model of the National Academies of the United States. It was founded at the University of South Florida in 201 ...

in 2020. He received the ASGCT Outstanding Investigator Award (2013), the E. Mead Johnson Award for Pediatric Research (2000), and the National Hemophilia Foundation Researcher of the Year Award (2000). He has mentored over 60 scientists.

Research and publications

Kay has published nearly 300 research articles, including over 30 in high-impact journals such as ''

Nature Nature is an inherent character or constitution, particularly of the Ecosphere (planetary), ecosphere or the universe as a whole. In this general sense nature refers to the Scientific law, laws, elements and phenomenon, phenomena of the physic ...

'', ''

Science Science is a systematic discipline that builds and organises knowledge in the form of testable hypotheses and predictions about the universe. Modern science is typically divided into twoor threemajor branches: the natural sciences, which stu ...

'', ''

Cell Cell most often refers to: * Cell (biology), the functional basic unit of life * Cellphone, a phone connected to a cellular network * Clandestine cell, a penetration-resistant form of a secret or outlawed organization * Electrochemical cell, a de ...

'', and ''

The New England Journal of Medicine ''The New England Journal of Medicine'' (''NEJM'') is a weekly medical journal published by the Massachusetts Medical Society. Founded in 1812, the journal is among the most prestigious peer-reviewed medical journals. Its 2023 impact factor w ...

''. His work has been cited over 65,000 times, and he has an

of 123.

Selected publications

*Snyder RO et al. (1999). Correction of hemophilia B in canine and murine models using recombinant adeno-associated viral vectors. ''Nat Med.'' 5:64–70. do
10.1038/4751
*McCaffrey AP et al. (2002). RNA interference in adult mice. ''Nature.'' 418:38–39. do
10.1038/418038a
*Grimm D et al. (2006). Fatality in mice due to oversaturation of cellular microRNA/short hairpin RNA pathways. ''Nature.'' 441:537–541. do
10.1038/nature04791
*Manno CS et al. (2006). Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. ''Nat Med.'' 12:342–347. do
10.1038/nm1358
*Grimm D et al. (2008). In vitro and in vivo gene therapy vector evolution via multispecies interbreeding and retargeting of adeno-associated viruses. ''J Virol.'' 82:5887–5911. do
10.1128/JVI.00254-08

References

{{DEFAULTSORT:Kay, Mark A. Living people American geneticists American pediatricians Stanford University faculty Michigan State University alumni Case Western Reserve University alumni Baylor College of Medicine alumni University of Washington faculty