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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 is known for his contributions in the discovery of two genes related to
Branchio-oto-renal syndrome (BOR) and Autosomal Dominant
Polycystic Kidney Disease (ADPKD2).
Biography
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 ,
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).
<443::aid-humu4>3.0.co;2-s "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).
<207::aid-ajmg12>3.0.co;2-a "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
References
^ Kumar, Shrawan.
"University of Nebraska Medical Center - Youth Enjoy Science" (PDF) .
^ 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 .
^
"Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number:113650, BRANCHIOOTORENAL SYNDROME 1; BOR1" . 2014.
^
"Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number:120502, BRANCHIOOTIC SYNDROME 2" . 2019.
^
"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.
^ 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 .
^ Kumar, Shrawan.
"Com DEI teams with MMI for pathways events" .
^ 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.
^ 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 .
^ 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