Robert J. Desnick
Encyclopedia
Robert J. Desnick, Ph.D., M.D., is a human geneticist
whose research accomplishments include significant developments in disease gene discovery
, inherited metabolic diseases, and the treatment of genetic diseases, including the development of enzyme replacement therapy
for Fabry disease.
Desnick is the Dean for Genetics and Genomics, Interim Director of the Mount Sinai Genomics Institute, and Professor and Chair of the Department of Genetics & Genomic Sciences at The Mount Sinai School of Medicine
in New York City
. Additionally, he is Physician-in-Chief of the Department of Medical Genetics and Genomics at The Mount Sinai Hospital
.
Desnick is the author of more than 600 peer-reviewed articles in scientific journals, 200 book chapters and is the editor of nine books. He holds 13 patents and is included in Castle Connelly's lists of Best Doctors in America and Best Doctors in New York and New York Magazine
’s list of the Best Doctors every year since the inception of the rating. He was elected to the Institute of Medicine
in 2004.
in 1965. He earned a Ph.D. in genetics from the University of Minnesota Graduate School in 1970 and his M.D. from the University of Minnesota Medical School
in 1971. He completed an internship and a residency in pediatrics at the University of Minnesota Hospitals
and joined the faculty at the University of Minnesota, where he rose to the rank of Associate Professor of Cell Biology and Genetics and Pediatrics.
Desnick joined the staff at Mount Sinai Medical Center in 1977, as the Arthur J. and Nellie Z. Cohen Professor of Pediatrics and Genetics and Chief of the Division of Medical and Molecular Genetics in the Department of Pediatrics. He was the first Chairman of the newly-created Department of Human Genetics in 1993, which was renamed the Department of Genetics & Genomic Sciences in 2006. In 2009, he became Dean for Genetics & Geonomics and Interim Director of the newly established Genomics Institute at Mount Sinai. He is currently Professor of Pediatrics, Oncological Sciences, Obstetrics, Gynecology and Reproductive Science, Gene and Cell Medicine and Professor and Chair of Genetics & Genomic Sciences.
Desnick is an elected member of the Society for Pediatric Research, the American Pediatric Society
, the American Society for Clinical Investigation
, and the Association of American Physicians
. He is an elected Fellow of the American Academy for the Advancement of Science, and an elected member of the Institute of Medicine
of the National Academy of Sciences
. His research awards include the E.H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research and the Award for Excellence in Clinical Research from the National Center for Research Resources
from the National Institutes of Health
.
Desnick is a past director of the American Board of Medical Genetics
, a Founding Diplomat of the American College of Medical Genetics
, a past member of the board of directors of the American College of Medical Genetics Foundation, and a founder and past-president of the Association of Professors of Human and Medical Genetics. He is past chair of the Association of American Medical Colleges
(AAMC), past member of the AAMC Board of Directors and past chair of the AAMC Council of Academic Societies.
Human genetics
Human genetics describes the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics,...
whose research accomplishments include significant developments in disease gene discovery
Gene therapy
Gene therapy is the insertion, alteration, or removal of genes within an individual's cells and biological tissues to treat disease. It is a technique for correcting defective genes that are responsible for disease development...
, inherited metabolic diseases, and the treatment of genetic diseases, including the development of enzyme replacement therapy
Enzyme replacement therapy
Enzyme replacement therapy is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. Usually this is done by giving the patient an intravenous infusion containing the enzyme...
for Fabry disease.
Desnick is the Dean for Genetics and Genomics, Interim Director of the Mount Sinai Genomics Institute, and Professor and Chair of the Department of Genetics & Genomic Sciences at The Mount Sinai School of Medicine
Mount Sinai School of Medicine
Mount Sinai School of Medicine is an American medical school in the borough of Manhattan in New York City, currently ranked among the top 20 medical schools in the United States. It was chartered by Mount Sinai Hospital in 1963....
in New York City
New York City
New York is the most populous city in the United States and the center of the New York Metropolitan Area, one of the most populous metropolitan areas in the world. New York exerts a significant impact upon global commerce, finance, media, art, fashion, research, technology, education, and...
. Additionally, he is Physician-in-Chief of the Department of Medical Genetics and Genomics at The Mount Sinai Hospital
Mount Sinai Hospital, New York
Mount Sinai Hospital, founded in 1852, is one of the oldest and largest teaching hospitals in the United States. In 2011-2012, Mount Sinai Hospital was ranked as one of America's best hospitals by U.S...
.
Desnick is the author of more than 600 peer-reviewed articles in scientific journals, 200 book chapters and is the editor of nine books. He holds 13 patents and is included in Castle Connelly's lists of Best Doctors in America and Best Doctors in New York and New York Magazine
New York (magazine)
New York is a weekly magazine principally concerned with the life, culture, politics, and style of New York City. Founded by Milton Glaser and Clay Felker in 1968 as a competitor to The New Yorker, it was brasher and less polite than that magazine, and established itself as a cradle of New...
’s list of the Best Doctors every year since the inception of the rating. He was elected to the Institute of Medicine
Institute of Medicine
The Institute of Medicine is a not-for-profit, non-governmental American organization founded in 1970, under the congressional charter of the National Academy of Sciences...
in 2004.
Biography
Desnick received his undergraduate degree from the University of MinnesotaUniversity of Minnesota
The University of Minnesota, Twin Cities is a public research university located in Minneapolis and St. Paul, Minnesota, United States. It is the oldest and largest part of the University of Minnesota system and has the fourth-largest main campus student body in the United States, with 52,557...
in 1965. He earned a Ph.D. in genetics from the University of Minnesota Graduate School in 1970 and his M.D. from the University of Minnesota Medical School
University of Minnesota Medical School
The University of Minnesota Medical School is the medical school of the University of Minnesota. It is a combination of two campuses situated in Minneapolis and Duluth, Minnesota....
in 1971. He completed an internship and a residency in pediatrics at the University of Minnesota Hospitals
University of Minnesota Medical Center
The University of Minnesota Medical Center, Fairview is the main university hospital for the University of Minnesota Medical School. There are two campuses: one located on the East Bank of the Mississippi River, known as the University Campus, and the other located on the West Bank, known as the...
and joined the faculty at the University of Minnesota, where he rose to the rank of Associate Professor of Cell Biology and Genetics and Pediatrics.
Desnick joined the staff at Mount Sinai Medical Center in 1977, as the Arthur J. and Nellie Z. Cohen Professor of Pediatrics and Genetics and Chief of the Division of Medical and Molecular Genetics in the Department of Pediatrics. He was the first Chairman of the newly-created Department of Human Genetics in 1993, which was renamed the Department of Genetics & Genomic Sciences in 2006. In 2009, he became Dean for Genetics & Geonomics and Interim Director of the newly established Genomics Institute at Mount Sinai. He is currently Professor of Pediatrics, Oncological Sciences, Obstetrics, Gynecology and Reproductive Science, Gene and Cell Medicine and Professor and Chair of Genetics & Genomic Sciences.
Desnick is an elected member of the Society for Pediatric Research, the American Pediatric Society
American Pediatric Society
The American Pediatric Society / Society for Pediatric Research are joint professional and advocacy organizations for pediatricians in the United States and Canada....
, the American Society for Clinical Investigation
American Society for Clinical Investigation
The American Society for Clinical Investigation, or ASCI, established in 1908, is one of the nation's oldest and most respected medical honor societies.-Organization and Purpose:...
, and the Association of American Physicians
Association of American Physicians
The Association of American Physicians is a medical society founded in 1885 by the Canadian physician Sir William Osler and six other distinguished physicians of his era, for "the advancement of scientific and practical medicine." Election to the AAP is an honor extended to individuals with...
. He is an elected Fellow of the American Academy for the Advancement of Science, and an elected member of the Institute of Medicine
Institute of Medicine
The Institute of Medicine is a not-for-profit, non-governmental American organization founded in 1970, under the congressional charter of the National Academy of Sciences...
of the National Academy of Sciences
United States National Academy of Sciences
The National Academy of Sciences is a corporation in the United States whose members serve pro bono as "advisers to the nation on science, engineering, and medicine." As a national academy, new members of the organization are elected annually by current members, based on their distinguished and...
. His research awards include the E.H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research and the Award for Excellence in Clinical Research from the National Center for Research Resources
National Center for Research Resources
The National Center for Research Resources or NCRR, is a United States government agency. NCRR provides funding to laboratory scientists and researchers for facilities and tools in the goal of curing and treating diseases.-Organization and history:...
from the National Institutes of Health
National Institutes of Health
The National Institutes of Health are an agency of the United States Department of Health and Human Services and are the primary agency of the United States government responsible for biomedical and health-related research. Its science and engineering counterpart is the National Science Foundation...
.
Desnick is a past director of the American Board of Medical Genetics
American Board of Medical Specialties
The American Board of Medical Specialties is a non-profit physician-led umbrella organization for 24 of the 26 approved medical specialty boards in the United States...
, a Founding Diplomat of the American College of Medical Genetics
American College of Medical Genetics
The American College of Medical Genetics is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics....
, a past member of the board of directors of the American College of Medical Genetics Foundation, and a founder and past-president of the Association of Professors of Human and Medical Genetics. He is past chair of the Association of American Medical Colleges
Association of American Medical Colleges
The Association of American Medical Colleges is a non-profit organization based in Washington, DC and established in 1876. It administers the Medical College Admission Test...
(AAMC), past member of the AAMC Board of Directors and past chair of the AAMC Council of Academic Societies.
Fellowships and awards
Partial list:- U.S. Public Health Service Fellowship in Genetics, 1968–1970
- Ross Award in Pediatric Research, 1972
- C.J. Watson Award, University of Minnesota, 1973
- NIH Research Career Development Award, 1975–1980
- E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics, 1981
- Honorary Member, Japanese Society for Inherited Metabolic Diseases, Elected 1985
- Correspondent Member, Societá Italiana di Pediatria, Elected 1991
- Honorary Member, Societá Italiana di Pediatria, Elected 1999
- Outstanding Faculty Award, Mount Sinai School of Medicine, 1991
- NIH MERIT Award, 1992–2004
- J. Lester Gabrilove Award for Medical Research, 2003
- Jacobi Medal, Mount Sinai Alumni Association, 2004
- Edward H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research, 2004
- University of Minnesota Medical School Distinguished Alumni Award, 2004
- Doctor of Science, Honoris Causa, Mount Sinai School of Medicine of New York University, 2004
- Elected Senior Fellow, American Association for the Advancement of ScienceAmerican Association for the Advancement of ScienceThe American Association for the Advancement of Science is an international non-profit organization with the stated goals of promoting cooperation among scientists, defending scientific freedom, encouraging scientific responsibility, and supporting scientific education and science outreach for the...
, 2004 - Elected Member, Institute of Medicine of the National Academy of Sciences, 2004
- Award for Excellence in Clinical Research from the National Center for Research Resources, NIH, 2005
- Albion O. Bernstein, MD Award for Contributions in Disease Prevention from the New York State Medical Society, 2005
Grants
Partial List:- Research Training For Medical Geneticists at The Mount Sinai School of Medicine, National Institute of General Medical SciencesNational Institute of General Medical SciencesThe National Institute of General Medical Sciences is a part of the National Institutes of Health that primarily supports research that lays the foundation for advances in disease diagnosis, treatment and prevention...
- Porphyria Rare Disease Clinical Research Consortium (rdcrc), National Institute of Diabetes and Digestive and Kidney DiseasesNational Institute of Diabetes and Digestive and Kidney DiseasesThe National Institute of Diabetes and Digestive and Kidney Diseases , of the U.S. National Institutes of Health, conducts and supports research on many of the most serious diseases affecting public health...
- Mental Retardation and Developmental Disabilities, National Institute of Child Health and Human DevelopmentNational Institute of Child Health and Human DevelopmentThe Eunice Kennedy Shriver National Institute of Child Health and Human Development , created by Congress in 1962, supports and conducts research on topics related to the health of children, adults, families, and populations...
- Porphyrias and Human Heme Biosynthesis, National Institute of Diabetes and Digestive and Kidney Diseases
- Alpha Galactosidases A And B -- Molecular and Cellular Mechanisms, National Institute of Diabetes and Digestive and Kidney Diseases
- Gene Therapy: Lysosomal Diseases With Mental Retardation, National Institute of Child Health & Human Development
Patents
| Patent No. | Title |
|---|---|
| 6,583,158 | Method for enhancing mutant enzyme activities in lysosomal storage disorders |
| 6,541,218 | Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease |
| 6,455,037 | Cells expressing an .alpha.gala nucleic acid and methods of xenotransplantation |
| 5,840,578 | Methods for determining susceptibility to lead poisoning |
| 5,830,850 | Methods for the treatment of bone resorption disorders, including osteoporosis |
| 5,773,278 | Acid sphingomyelinase gene |
| 5,686,240 | Acid sphingomyelinase gene and diagnosis of Niemann-Pick disease |
| 5,639,607 | Method and kits for detecting a polymorphism in delta.-aminolevulinate dehydratase gene which is associated with an altered susceptibility to lead poisoning |
| 5,580,757 | Cloning and expression of biologically active alpha-galactosidase A as a fusion protein |
| 5,491,075 | Cloning and expression of biologically active alpha N-acetylgalactosaminidase |
| 5,401,650 | Cloning and expression of biologically active alpha-galactosidase A |
| 5,382,524 | Cloning and expression of biologically active alpha-N-acetylgalactosaminidase |
| 5,356,804 | Cloning and expression of biologically active human alpha-galactosidase A |
Books
- Desnick, R.J., Bernlohr, R.W. and Krivit, W., eds.: Enzyme Therapy in Genetic Diseases, Birth Defects Original Article Series. Vol. IX, No. 2. The National Foundation, New York, pp. 236, 1973. ISBN 0683063677
- Rubenstein, I., Phillips, R.L., Green, C.E. and Desnick, R.J., eds.: Molecular Genetic Modification of Eucaryotes, Academic Press, New York, pp. 171, 1977. ASIN B000N5X2F2
- Desnick, R.J., ed.: Enzyme Therapy in Genetic Diseases: 2, Alan R. Liss, Inc., New York, pp. 544, 1980. ISBN 0845110357
- Desnick, R.J., Patterson, D.F. and Scarpelli, D.F., eds.: Animal Models of Inherited Metabolic Diseases. Alan R. Liss, Inc., New York, pp. 519, 1982. ASIN B0028IQ4KC
- Desnick, R.J., Gatt, S. and Grabowski, G.A., eds.: Gaucher Disease: A Century of Delineation and Research, Alan R. Liss, Inc., New York, pp. 740, 1982. ISBN 0845100955
- Bishop, D.F. and Desnick, R.J., eds.: Assays of the Heme Biosynthetic Enzymes. Enzyme 28:1-232, 1982. ISBN 978-3-8055-3573-1
- Tada, K., Colombo, J.P. and Desnick, R.J., eds.: Recent Advances in Inborn Errors of Metabolism. Karger, Basel, pp. 332, 1987. ISBN 3805547722
- Desnick, R.J., ed.: Treatment of Genetic Diseases, Churchill Livingstone, Inc., New York, pp. 331, 1991. ISBN 0443087733
- Desnick, R.J. and Kaback, M.M.Michael KabackMichael M. Kaback, M.D. is a Professor of Pediatrics and Reproductive Medicine, and chief of the Division of Medical Genetics, at the University of California-San Diego....
, eds.: Tay-Sachs Disease, Academic Press, pp. 1–360, 2001. ISBN 0120176440
Publications
Partial list:- Ziegler, RJ, Cherry, M, Barbon, CM, Li, C, Bercury, SD, Armentano, D, Desnick, RJ, Cheng, SH: Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A Mol. Ther. 15:492-500, 2007. PMID 17191071
- Germain, DP, Waldek, S, Banikazemi, M, Bushinsky, DA, Charrow, J, Desnick, RJ, Lee, P, Loew, T, Vedder, AC, Abichandani, R, Wilcox, WR, and Guffon, N: Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease J. Am. Soc. Nephrol. 18:1547-1557, 2007. PMID 17409312
- Grace, ME, Balwani, M, Nazarenko, I, Prakash-Cheng, A, and Desnick, RJ: Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations- implications for diagnosis and therapeutic monitoring. Hum. Mut. 28:866-873, 2007. PMID 17464953
- Desnick, R.J: Prenatal diagnosis of Fabry disease Prenat. Diag. 27:693-694, 2007. PMID 17533632
- Scott, SA, Edelmann, L, Kornreich, R, Erazo, M and Desnick, RJ: CYP2C9, CYP2C19, and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics 8:721-730, 2007. PMID 18240905
- Yasuda, M, Domaradzki, M, Bishop, DF, and Desnick, RJ: Acute intermittent porphyria: Vector optimization for gene therapy J. Gene Med. 9:806-911, 2007. PMID 17654633
- Cunha, L, Kuti, M, Bishop, DF, Mezei, M, Zeng, L, Zhou, MM and Desnick, RJ: Human uroporphyrinogen III synthase: NMR-based mapping of the active site. Proteins 71:855-873, 2008. PMID 18004775
- Scott, SA, Edelmann, L, Kornreich, R and Desnick, RJ: Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotype predict different sensitivities and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am. J. Hum. Genet. 82:495-500, 2008. PMID 18252229
- McGovern, MM, Wasserstein, MP, Giugliani, R, Bembi, B, Vanier, M, Mengel, E, Brodie, SE, Mendelson, D, Skloot, G, Schuchman, EH Kuriyama, N, Desnick, RJ, and Cox, GF: A prospective, crosssectional survey study of the natural history of Niemann-Pick disease Type B. Pediatrics 122: e341-349, 2008. PMID 18625664
- Schiffmann, R, Banikazemi, M, Bultas, J, Linthorst, GE, Packman, S, Warnock, D, Asger Sorensen, S, Wilcox, WR, and Desnick, RJ: Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Nephrol. Dial. Transplant. 24:2102-2111, 2009. PMID 19218538
- Benjamin, ER, Flanagan, JJ, Schilling, A, Chang, HH, Agarwal, L, Datz, E, Wu, X, Pine, C, Wustman, B, Desnick, RJ, Lockhart, DJ, and Valenzano, KJ: The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines. J. Inherit. Dis. 3:424-440, 2009. PMID 19387866
- Hwu, WL, Chien, YH, Lee, NC, Chiang, SC, Huang, AC, Yeh, HY, Chao, MC, Lin, SJ, Kitagawa, T, Hse, LW, Desnick, RJ, and Hsu, LW: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset mutation, IVS4+919G>A. Hum. Mutat., June 26, 2009. PMID 19621417
- Scott, SA, Jaremko, M, Lubitz, S, Halperin, JL, Desnick, RJ: CYP2C9*8 is prevalent in African-Americans: implications for pharmacogenetic dosing. Pharmacogenomics 10:1243-1255, 2009. PMID 1963669
- Galende, E., Karakikes, I, Edelmann, L, Desnick, RJ, Kerenyi, T, Khoueiry, G, Lafferty, J, McGinn, JT, Brodman, M, Fuster, VValentin FusterValentí Fuster is a Spaniard cardiologist – the only cardiologist to receive all four major research awards from the world's four major cardiovascular organizations....
, Hajjar, RJ, and Polgar, K Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cloning Stem Cells [Epub] Dec. 17, 2009. PMID 20017623 - Khanna, R, Soska, R, Lun, Y, Feng, J, Frascella, M, Young, B, Brignol, N, Pellegrino, L, Sitaraman, SA, Desnick, RJ, Benjamin, ER, Lockhart, DJ and Valenzano, KJ: The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol. Ther. 18:23-33, 2010. PMID 19773742
- Yasuda, M, Bishop, DF, Gan, L, Fowkes, M, Ziegler, R, Cheng, SH, and Desnick, RJ: AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria. Mol. Ther. 18:17-22, 2010. PMID 19861948
- Wozniak, M, Kittner, S, Tuhrim, S, Cole, J, Stern, B, Dobbins, M, Grace, M, Nazarenko, I, Dobrovolny, R, McDade, E, Desnick, RJ: Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 41: 78-81, 2010. PMID 20007919
External links
- The Mount Sinai Hospital homepage
- The Mount Sinai School of Medicine homepage
- An infusion of hope for Fabry disease patients. Dr. Robert J. Desnick on the treatment of Fabry disease. New York Daily News, December 31, 2008.