Shrawan Kumar (geneticist)

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Shrawan Kumar, Indian-American geneticist

Shrawan Kumar
Born
Shrawan Kumar

Kolkata, India
CitizenshipUnited States
Alma materCalcutta University (BSc)
Ranchi University (M.Sc., PhD)
Known forDiscovering BOR and ADPKD2 genes
Scientific career
FieldsGenetics
InstitutionsUniversity of Nebraska Medical Center
Creighton University Medical Center
Boys Town National Research Hospital
Doctoral advisorA. K. Mitra and P. Dash Sharma

Shrawan Kumar (also known as Sam Kumar) is an Indian-American scientist whose research interests are in molecular genetics, forensic science, biological anthropology, and population genetics. After completing his M.S. and Ph.D. in India, Kumar joined the University of Nebraska Medical Center as a Postdoctoral Fellow in Omaha, Nebraska, USA, in 1988 to work on coxsackievirus murine myocarditis in genetically defined inbred strains. After a year, he moved on to work on Gene|genes associated with hearing loss and kidney disorders at the Boys Town National Research Hospital, affiliated with Creighton University Medical Center as an Associate Professor and Staff Scientist.

While working on a National Institute of Health funded research grant as a principal investigator, he discovered two genes that have health benefits and life-saving consequences. The first gene named Branchio-oto-renal syndrome (BOR),[1] [2][3] [4] [5][6] is localized on chromosome 8q using genetic linkage studies, [7] and several mutations have been found in the EYA1 gene. [8][9] [10][11] The second gene, Autosomal Dominant Polycystic Kidney Disease (ADPKD2)[12] [13] is mapped on chromosome 4q. [14] Due to the genetic heterogeneity associated with BOR, some families did not link to chromosome 8q, [15][16] and Kumar discovered another gene, branchio-otic (BO) type syndrome, on chromosome 1q31.[17] More recently, Kumar has been working with Native-American communities, focusing on career pathways related to basic science and cancer education at the Munroe Myer Institute at the University of Nebraska Medical Center.[18]

Education and early life

Shrawan Kumar was born and grew up in Calcutta (now Kolkata), India. His father, Fulchand Shah, was a businessman, and his mother, Chowrashi Debi, a housewife. His parents' three mantras—helping the needy, being an honest person, and focusing on education—were instrumental in shaping Kumar’s overall personality and his future goals. While Kumar was finishing his undergraduate degree from Calcutta University in 1972, he showed a keen interest in acting in the late seventies and eighties and appeared in several stage plays [./Https://commons.wikimedia.org/wiki/File:Shrawan_Kumar_Tamrapatra_1979.jpg] at the Kolkata-based Indian theater Anamika Kala Sangam. Because of the lack of future opportunities in the acting field in those days, he decided to focus on education. He briefly joined Calcutta Homeopathic Medical College, but he left after two years and completed master's degrees in genetics and biological anthropology in 1976 from Ranchi University. He was interested in medicine (M.D.) but he changed his mind when, during that time, he received a scholarship from the Bureau of Police Research and Development, New Delhi, for doctoral research at the Department of Serologist and Chemical Examiner, Government of India, Kolkata, in Forensic Science. [19] [20][21][22][23][24] [25] [26] After receiving his Ph.D. degree in 1984, Kumar continued his zeal to do research and joined the Anthropological Survey of India, Government of India, where he worked on population genetics.[27] [28][29] [30][31] [32][33] He took on a very important assignment supported by the Anthropological Survey of India to do immunogenetic research on one of the vanishing tribes (totaling around 100 individuals in 1980), "ONGE," which inhabits the Andaman and Nicobar archipelago. The Onge, the last surviving hunter-gatherer population in the region, has declined considerably in the last few decades, and the purpose of his study [./Https://commons.wikimedia.org/w/index.php%3Fsearch=onge+pictures&title=Special:MediaSearch&go=Go&type=image ] was to find the cause of their continuous decline. [34][35][36] In 1988, Kumar received an offer, to do advance research, from the University of Nebraska Medical Center, Omaha, USA.

Research and career

Kumar joined the University of Nebraska Medical Center as a postdoctoral research associate in 1988. After a year, he moved to Boys Town National Research Hospital, affiliated with Creighton University Medical Center. He was involved in research and teaching medical students and undergrads at Creighton University and the University of Nebraska at Omaha and rose to the position of Associate Professor and Staff Scientist. In an effort to pinpoint the genetic causes of hearing loss, deafness and kidney disorders, Kumar has collaborated with researchers from all over the world. His work was recognized by the National Institutes of Health (NIH) and received funding from the NIH as part of a Program Project grant to discover and clone the Branchio-oto-renal and ADPKD2 genes. This was followed by an R01 grant from 2002 to 2007 from the National Institute of Dental and Craniofacial Research administered through Father Flanagan's Boys' Home.[37] Based on his significant scientific accomplishments, he was invited to serve as a committee member for four years at the National Institute on Deafness and Other Communication Disorders, National Institute of Health, in 2002. Kumar also served on the editorial board of South Asian Anthropologist. Later in his career, he joined Qualia Clinical Pharmaceutical Company, becoming involved in early and late-phase clinical trials. After Qualia Clinical relocated, he then briefly worked in various hospitals in Omaha doing intraoperative neuromonitoring of spine surgery. Kumar is currently working at the Munroe Myer Institute, University of Nebraska Medical Center, to develop career pathways directed at underrepresented minority youth in health and science careers. Kumar participated in a number of workshops and consortia, related to human genome project, among them being: several International Workshops on Human Chromosome 8 Mapping. [38][39][40]

Personal life

Kumar lives in Omaha, Nebraska, and is married to schoolteacher Lina Kumar. They have one son and two daughters.

References

  1. ↑ Stinckens, Chr.; Standaert, L.; Casselman, J.W.; Huygen, P.L.M; Kumar, S.; Van de Wallen, J.; Cremers, C.W.R.J. (2001). "The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study". International Journal of Pediatric Otorhinolaryngology. 59 (3): 163–172. doi:10.1016/s0165-5876(01)00473-6. ISSN 0165-5876. PMID 11397497.
  2. ↑ Kemperman, Martijn H.; Koch, Sacha M. P.; Joosten, Frank B. M.; Kumar, Shrawan; Huygen, Patrick L. M.; Cremers, Cor W. R. J. (September 1, 2002). "Inner Ear Anomalies Are Frequent but Nonobligatory Features of the Branchio-oto-renal Syndrome". Archives of Otolaryngology–Head & Neck Surgery. 128 (9): 1033–1038. doi:10.1001/archotol.128.9.1033. ISSN 0886-4470. PMID 12220207.
  3. ↑ 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 November 18, 2022
  4. ↑ Kemperman, Mathyus H.; Koch, Sacha M. P.; Kumar, Shrawan; Huygen, Patrick L. M.; Joosten, Frank B. M.; Cremers, Cor W. R. J. (2004). "Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome". International Journal of Audiology. 43 (9): 523–532. doi:10.1080/14992020400050067. ISSN 1499-2027. PMID 15726843.
  5. ↑ Koch, Sacha M. P.; Kumar, Shrawan; Cremers, Cor W. R. J. (May 1, 2000). "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.
  6. ↑ Kumar, Shrawan (October 17, 2003), "Branchio-oto-renal Syndrome", Genetic Hearing Loss, CRC Press, doi:10.1201/9780203913062.ch9, ISBN 978-0-8247-4309-3, retrieved November 18, 2022
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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 (May 12, 2004). "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. doi:10.1073/pnas.0308475101. ISSN 0027-8424. PMC 419562. PMID 15141091.
  12. ↑ Kumar, S; Kimberling, W J; Gabow, P A; Shugart, Y Y; Pieke-Dahl, S (November 1, 1990). "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.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ Kumar, Shrawan; Marres, Henri A.M.; Cremers, Cor W.R.J.; Kimberling, William J. (April 13, 1998). <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.
  16. ↑ Kumar, Shrawan; Kimberling, William J.; Marres, Henri A.M.; Cremers, Cor W.R.J. (March 19, 1999). <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.
  17. ↑ 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.
  18. ↑ 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 (September 24, 2019). "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.
  19. ↑ Kumar, S; Ganguly, HN; Mitra, AK (1980). "Studies on dosage effect in ABO blood group system-An assessment of H substance in red blood cells of homozygous and heterozygous status". J. Ind. Acad. Forensic Sc. 19: 39–43.
  20. ↑ Kumar, S; Ganguly, HN; Mukherjee, B; Mitra, AK (1982). "Determination of ABO blood groups with secretor saliva coated on inert particles (charcoal)". Ind. Anthrop. Soc. 17: 275–281.
  21. ↑ Kumar, S (1983). "Electrophoretic study of serum protein antigens and its importance in the evolution of animal species". J. Ind. Anthrop. Soc. 18 (177–185).
  22. ↑ Kumar, S; Sharma, PD; Ganguly, HN; Mitra, AK (1984). "Study of the serological cross-reaction amongst the protein antigens of related animal species". South Asian Anthrop. (5): 15–25.
  23. ↑ Kumar, S (1985). "An application of modified electroimmunodiffusion technique in differentiation of the blood stain of closely related animal species". J. Ind. Anthrop. Soc. 20: 145–152.
  24. ↑ Kumar, S; Ganguly, HN; Mukherjee, B; Mitra, AK (1985). "Differentiation of the blood stain of closely related animal species using sensitized charcoal particles". Phys. Anth & Hum. Genetics. 11 (11): 47–54.
  25. ↑ Kumar, Shrawan (1986). "Serum immunoglobulin concentration in VDRL positive patient". Current Science. 55: 258–259.
  26. ↑ S. Kumar. An application of modified electroimmuno-diffusion technique in differentiation of the bloodstains of closely related animal species. XIth International Congress of Anthropological & Ethnological Sciences. Vancouver,Canada,1983
  27. ↑ Kumar, S (1985). "Serum immunoglobulin level in relation to blood group polymorphism". South Asian Anthropologist. 6: 141.
  28. ↑ Kumar, S (1986). "The distribution of serum immunoglobulin levels in world population with special reference to Bengalis of Calcutta, India". Human Science. 35: 203–214.
  29. ↑ Kumar, S; Reddy, AP (1987). "A study of transferrin subtypes in Bengalee population". Man in India (67): 424–426.
  30. ↑ Kumar, S; Reddy, AP (1987). "The world distribution of esterase D polymorphism with special reference to Indian population". South Asian Anthropologist. 8: 33–47.
  31. ↑ Kumar, S; Das, MK (1997). "Genetic regulation and effect of age-sex variation on immunoglobin levels - an investigation based on a population study". J. Hum. Ecol. 8: 1–8.
  32. ↑ Kumar, S (1986). "Effects of age, sex and socioeconomic background on serum immunoglobulin levels". J. Ind. Anthrop. Soc. (21): 260–265.
  33. ↑ Kumar, S (1985). "The people of Nancowry Island: Their changing condition". Human Science. 34: 138–145.
  34. ↑ Kumar, Shrawan (1987). "Blood groups, sickle cell trait and total haemoglobin among the Onge of Little Andaman". Human Science. 37 (4): 378–381.
  35. ↑ Kumar, S (1987). "Study of immunoglobulin levels in the Onge of Little Andaman". Human Science. 37: 260–265.
  36. ↑ Kumar, S (1992). "Immunogenetic study on the Onge population". Anthropol. Surv. Ind. 41: 55–84.
  37. ↑ "Molecular Genetic Studies of Branchiogenic Disorders". NIH RePORTER. Archived from the original on November 18, 2022. Retrieved November 18, 2022.
  38. ↑ 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.
  39. ↑ 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.
  40. ↑ 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.

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