Shrawan Kumar (geneticist)

Shrawan Kumar
Citizenship	USA
Known for	Discovery of BOR and ADPKD2 Genes
Scientific career
Fields	Genetics
Institutions	Creighton University Medical Center Boystown National Research Hospital University of Nebraska Medical Center

Shrawan Kumar, is an Indian-American geneticist, working in the fields of molecular and population genetics. He contributed to the discovery of two genes related to Branchio-oto-renal syndrome (BOR) and Autosomal Dominant Polycystic Kidney Disease (ADPKD2).

Career

Following the completion of his M.S. and Ph.D. in India, Shrawan Kumar joined the University of Nebraska Medical Center as a Postdoctoral Fellow in Omaha, Nebraska, USA, in 1988. Subsequently, he contributed to genetic research at the Boys Town National Research Hospital, which is affiliated with Creighton University Medical Center, holding positions as Associate Professor and Staff Scientist where his research initiatives were related to the exploration of genes associated with hearing loss and kidney disorders. Later, he served as the principal investigator on a National Institutes of Health-funded research grant, which led to the discovery of two genes viz. Branchio-oto-renal syndrome (BOR) and Autosomal Dominant Polycystic Kidney Disease (ADPKD2). ^[1] He was also involved in the discovery of an additional gene linked to branchio-otic (BO) type syndrome, located on chromosome 1q31. ^[2] His contributions are documented in OMIM, (Online Mendelian Inheritance in Man), a comprehensive catalog of human gene discoveries and genetic disorders. ^{[3] [4] [5]}

Kumar, whose efforts are also associated with the Native-American communities, serves at the Munroe Myer Institute at the University of Nebraska Medical Center. ^[6] where he is involved in guiding students on career pathways associated with basic science and cancer education ^[7] He also participates in various workshops and consortia related to the human genome project, notably in several International Workshops on Human Chromosome 8 Mapping. ^{[8] [9] [10]}

Publications

• Kemperman, M.H.; Stinckens, C.; Kumar, S.; Joosten, F.B.M.; Huygen, P.L.M.; Cremers, C.W.R.J. (2002), The Branchio-Oto-Renal Syndrome , Advances in Oto-Rhino-Laryngology, vol. 61, Basel: KARGER, pp. 192–200, doi:10.1159/000066809, ISBN   3-8055-7449-5, PMID   12408084 , retrieved 2022-11-18
• Koch, Sacha M. P.; Kumar, Shrawan; Cremers, Cor W. R. J. (2000-05-01). "A Family With Autosomal Dominant Inherited Dysmorphic Small Auricles, Lip Pits, and Congenital Conductive Hearing Impairment" . Archives of Otolaryngology–Head & Neck Surgery. 126 (5): 639–644. doi:10.1001/archotol.126.5.639. ISSN   0886-4470. PMID   10807332.
• Kumar, Shrawan (2003-10-17), "Branchio-oto-renal Syndrome" , Genetic Hearing Loss, CRC Press, doi:10.1201/9780203913062.ch9 (inactive 12 July 2025), ISBN   978-0-8247-4309-3 , retrieved 2022-11-18
• Kumar, Shrawan; Kimberling, William J.; Lanyi, Arpad; Sumegi, Janos; Pinnt, Jeff; Ing, Paul; Tinley, Sue; Marres, Henri A. M.; Cremers, Cor W. R. J. (1996-01-01). "Narrowing the Genetic Interval and Yeast Artificial Chromosome Map in the Branchio–Oto–Renal Region on Chromosome 8q". Genomics. 31 (1): 71–79. doi:10.1006/geno.1996.0011. hdl: 2066/22560 . ISSN   0888-7543.
• Kumar, Shrawan; Kimberling, William J.; Kenyon, Judy B.; Smith, Richard J. H.; Marres, Henri A. M.; Cremers, Cor W. R. J. (1992). "Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family" . Human Molecular Genetics. 1 (7): 491–495. doi:10.1093/hmg/1.7.491. ISSN   0964-6906. PMID   1307249.
• KUMAR, SHRAWAN; DEFFENBACHER, KAREN; CREMERS, COR W. R. J.; VAN CAMP, GUY; KIMBERLING, WILLIAM J. (1997). "Branchio-Oto-Renal Syndrome: Identification of Novel Mutations, Molecular Characterization, Mutation Distribution, and Prospects for Genetic Testing" . Genetic Testing. 1 (4): 243–251. doi:10.1089/gte.1997.1.243. ISSN   1090-6576. PMID   10464653.
• Kumar, Shrawan; Kimberling, William J.; Weston, Michael D.; Schaefer, Bradley G.; Berg, Mary Anne; Marres, Henri A. M.; Cremers, Cor W. R. J. (1998). "Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome". Human Mutation. 11 (6): 443–449. doi: 10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s . ISSN   1059-7794. PMID   9603436. S2CID   26027737.
• Usami, S.; Abe, Satoko; Shinkawa, Hideichi; Deffenbacher, Karen; Kumar, Shrawan; Kimberling, William J. (1999). "EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family". Journal of Human Genetics. 44 (4): 261–265. doi: 10.1007/s100380050156 . ISSN   1434-5161. PMID   10429368. S2CID   31114290.
• Ruf, Rainer G.; Xu, Pin-Xian; Silvius, Derek; Otto, Edgar A.; Beekmann, Frank; Muerb, Ulla T.; Kumar, Shrawan; Neuhaus, Thomas J.; Kemper, Markus J.; Raymond, Richard M.; Brophy, Patrick D.; Berkman, Jennifer; Gattas, Michael; Hyland, Valentine; Ruf, Eva-Maria (2004-05-12). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes". Proceedings of the National Academy of Sciences. 101 (21): 8090–8095. Bibcode:2004PNAS..101.8090R. doi: 10.1073/pnas.0308475101 . ISSN   0027-8424. PMC   419562 . PMID   15141091.
• Fick, Godela M.; Johnson, Ann M.; Strain, John D.; Kimberling, William J.; Kumar, Shrawan; Manco-Johnson, Michael L.; Duley, Irene T.; Gabow, Patricia A. (1993). "Characteristics of very early onset autosomal dominant polycystic kidney disease" . Pediatric Nephrology. 7 (6): 757. doi:10.1007/bf01213346. ISSN   0931-041X. S2CID   11017323.
• Kimberling, W J; Pieke-Dahl, S A; Kumar, S (1991-11-01). "The genetics of cystic diseases of the kidney". Seminars in Nephrology. 11 (6): 596–606. ISSN   1558-4488. PMID   1767134.
• Kumar, S; Kimberling, W J; Gabow, P A; Shugart, Y Y; Pieke-Dahl, S (1990-11-01). "Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1". Journal of Medical Genetics. 27 (11): 697–700. doi:10.1136/jmg.27.11.697. ISSN   1468-6244. PMC   1017261 . PMID   1980516.
• Kumar, Shrawan; Kimberling, William J.; Gabow, Patricia A.; Kenyon, Judy B. (1991-06-01). "Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family" . Human Genetics. 87 (2): 129–133. doi:10.1007/BF00204167. ISSN   1432-1203.
• Kimberling, William J.; Kumar, Shrawan; Gabow, Patricia A.; Kenyon, Judith B.; Connolly, Christopher J.; Somlo, Stefan (1993). "Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13–q23" . Genomics. 18 (3): 467–472. doi:10.1016/s0888-7543(11)80001-7. ISSN   0888-7543. PMID   8307555.
• Kumar, Shrawan; Marres, Henri A.M.; Cremers, Cor W.R.J.; Kimberling, William J. (1998-04-13). <395::aid-ajmg6>3.0.co;2-m "Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) Gene at 8q13" . American Journal of Medical Genetics. 76 (5): 395–401. doi:10.1002/(sici)1096-8628(19980413)76:5<395::aid-ajmg6>3.0.co;2-m. ISSN   0148-7299. PMID   9556298.
• Kumar, Shrawan; Kimberling, William J.; Marres, Henri A.M.; Cremers, Cor W.R.J. (1999-03-19). "Genetic heterogeneity associated with branchio-oto-renal syndrome". American Journal of Medical Genetics. 83 (3): 207–208. doi: 10.1002/(sici)1096-8628(19990319)83:3<207::aid-ajmg12>3.0.co;2-a . ISSN   0148-7299. PMID   10096598.

See also

• Branchio-oto-renal syndrome
• Autosomal dominant polycystic kidney disease
• Polycystic Kidney Disease

• Science portal

References

1. Kumar, Shrawan. "University of Nebraska Medical Center - Youth Enjoy Science" (PDF).
2. Kumar, Shrawan; Deffenbacher, Karen; Marres, Henri A.M.; Cremers, Cor W.R.J.; Kimberling, William J. (2000). "Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications". The American Journal of Human Genetics. 66 (5): 1715–1720. doi:10.1086/302890. ISSN   0002-9297. PMC   1378029 . PMID   10762556.
3. "Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number:113650, BRANCHIOOTORENAL SYNDROME 1; BOR1". 2014.
4. "Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number:120502, BRANCHIOOTIC SYNDROME 2". 2019.
5. "Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 613095, POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2". 2022.
6. Herek, Tyler A.; Branick, Connor; Pawloski, Robert W.; Soper, Kim; Bronner, Liliana P.; Pocwierz-Gaines, Misty S.; Kumar, Shrawan; Robbins, Regina E.; Solheim, Joyce C.; Godfrey, Maurice (2019-09-24). "Cancer Biology and You: An Interactive Learning Event for Native American High School Students to Increase Their Understanding of Cancer Causes, Prevention, and Treatment, and to Foster an Interest in Cancer-Related Careers". The Journal of STEM Outreach. 2 (1). doi:10.15695/jstem/v2i1.16. ISSN   2576-6767. PMC   7043323 . PMID   32104789.
7. Kumar, Shrawan. "Com DEI teams with MMI for pathways events".
8. Wood S, Ben Othmane K, Bergerheim US, Blanton SH, Bookstein R, Clarke RA, Daiger SP, Donis-Keller H, Drayna D, Kumar S, et al. (1993). "Report of the first international workshop on human chromosome 8 mapping". Cytogenetics and Cell Genetics . 64 (3–4): 134–146. doi:10.2172/10179528. PMID   8404033 – via OSTI.GOV.
9. Spurr, Nigel K.; Leach, Robin J. (1995). "Report of the Second International Workshop on Human Chromosome 8 Mapping 1994" . Cytogenetic and Genome Research . 68 (3–4): 147–164. doi:10.1159/000133908. PMID   7842731.
10. Leach, Robin J. (1996). "Report of the Third International Workshop on Human Chromosome 8 Mapping 1996" . Cytogenetic and Genome Research . 75 (2–3): 71–84. doi:10.1159/000134460. PMID   9040775 – via Karger.

External links

• "Shrawan Kumar - ResearchGate". ResearchGate. Retrieved 2023-11-17.
• "Shrawan Kumar - UNMC - Academia.edu". citizenshipinc.academia.edu. Retrieved 2023-11-17.