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The Center for Genetic Studies & Research (CGSR) is a newly established center running successfully for the past 8 years at The Madras Medical Mission, Chennai, providing genetic services with facilities for conducting diagnostics, counselling, academics and research housed with advanced equipment and technology. It is spread over 1200 sq. ft and includes state-of-the-art facilities from leading technology providers like Thermo Scientific, Olympus, Shimadzu, Abott Molecular, Eppendorf including a cytogenetic workstation coupled with Leica microscope and Cytovision software version 7.4 for carrying out clinical and molecular cytogenetic and DNA based molecular genetic tests. CGSR aims to provide strong commitment to research and the development of new services such as molecular genetics and cancer diagnosis and risk assessment by collaborating closely with clinical practice and healthcare providers in order to assist patients and their families in the understanding of the diagnosis, prevention and management of genetic disorders.

Highlights

  • The CGSR houses diagnostic services with an extensive range of cytogenetic testing such as prenatal and post–natal genetic screening, haemotological disorders, sperm aneuploidy tests (SAT), fluorescence in situ hybridisation (FISH), etc.
  • As per the PCPNDT Act of 1994, registration has been granted by the Government of Tamil Nadu to conduct prenatal genetic diagnosis. A dedicated Fetal Medicine Unit works hand-in-hand with CGSR to provide the prenatal testing services.
  • CGSR is involved in teaching genetics to various units of The Madras Medical Mission (MMM) such as B.Sc/M.Sc. Nursing, B.Sc/M.Sc. MLT, MBBS/MD students on a regular basis and conducting on–the–job training, observership, internship and projects on clinical genetics for students from life science, biotechnology, biomedical genetics and genetic engineering background.
  • Published 22 original research articles and reviews in peer-reviewed journals and presented 30 invited guest lectures/oral/poster presentations in national and international forums since the centre’s inception.

Dr. Bibhas Kar

Dr. Bibhas Kar holds a Ph.D. degree in Life Science and is currently a Consultant and Head, at Centre for Genetic Studies & Research, The Madras Medical Mission, Chennai. He has over 22 years of experience in the field of human genetics. He has been honored with many prestigious international and national fellowships and awards which includes Stevens Shapiro Memorial Fellowship from the UK; International Union of Biochemistry and Molecular Biology Young Scientist Award from the USA; Indian Science Congress Association Young Scientist Award from India and AMP 2018 International Membership Grant Award from The Association for Molecular Pathology USA for his work in Clinical Cytogenetics and Human Molecular Genetics. He is also a life member of various professional bodies including European Cytogeneticists Association (ECA). He has published 51 articles in national and international peer-reviewed journals and books. He has served on the editorial board of several journals. He has earlier worked at Sankara Nethralaya as Genetic Scientist and Apollo Hospitals as Consultant Geneticist and Head of the Department of Medical Genetics.

S.No.

Investigations

1

FISH for BCR/ABL – t(9;22), (PB/BM)

2

FISH for PML/RARA – t(15;17), (PB/BM)

3

FISH for AML1/ETO – t(8;21), (PB/BM)

4

FISH for IGH/MYC – t(8;14), (PB/BM)

5

FISH for IGH/CCND1 – t(11;14), (PB/BM)

6

FISH for Prader Willi/Angelman syndrome – 15q11 (PB/CVS/AF/FBS)

7

FISH for Di George like syndrome DGS2 – 10p14 (PB/CVS/AF/FBS)

8

FISH for Di George TBX1 – 22q11.2 (PB/CVS/AF/FBS)

9

FISH for Miller-Dieker – 17p13.3 (PB/CVS/AF/FBS)

10

FISH for Smith-Magenis – 17p11.2 (PB/CVS/AF/FBS)

11

FISH for Wolf-Hirschhorn 4p (PB/CVS/AF/FBS)

12

FISH for Cri Du Chat 5p (PB/CVS/AF/FBS)

13

FISH for 1p36 deletion syndrome (PB)

14

FISH for chromosome 21, AF/ CVS/ FBS/ PB

15

FISH for chromosome 18, AF/ CVS/ FBS/ PB

16

FISH for chromosome 13, AF/ CVS/ FBS/ PB

17

FISH for chromosome X & Y, AF/ CVS/ FBS/ PB

18

FISH For Di George / VCFS – 22q11, PB/ CVS/AF/FBS

19

FISH for Williams syndrome – 7q11.23, PB/CVS/AF/FBS

20

Sperm aneuploidy test by FISH (13/18/21/X/Y)

21

Sperm aneuploidy test by FISH (13/21)

22

Sperm aneuploidy test by FISH (18/X/Y)

23

X–Y sperm identification by FISH

24

Products of conception (POC) by FISH (13/18/21/X/Y)

25

Products of conception (POC) by FISH (13/21)

26

Products of conception (POC) by FISH (18/X/Y)

27

FISH for aneuploidy screening (13/18/21/X & Y) – AF/ CVS/ FBS

28

FISH for chromosome 13,18 and 21 (AF/CVS/FBS/PB)

29

FISH for sex mismatched BMT study, (BM)

30

DNA testing of fragile X, (PB)

31

DNA testing for Y chromosome microdeletion, (PB)

32

DNA testing for Gauchers – 6 common mutations, exons 9 &10 (PB)

33

DNA testing for Gauchers prenatal – 6 common mutations, exons 9&10, (CVS/AF)

34

DNA testing for Gauchers – prenatal diagnosis of known mutation (CVS/AF)

35

DNA testing for Gauchers – coding sequence (PB)

36

DNA testing for glycogen storage disease 1A – all exons (PB)

37

DNA testing for glycogen storage disease 1A – prenatal diagnosis of known mutation, (CVS/AF)

38

DNA testing for glycogen storage disease 1B – all exons, (PB)

39

DNA testing for glycogen storage disease 1B – prenatal diagnosis of known mutation, (CVS/AF)

40

DNA testing for Noonan syndrome – PTPN11 – exons 3 & 8 (PB)

41

DNA testing for Noonan syndrome –PTPN11 – all exons (PB)

42

DNA testing for Noonan syndrome – SOSI-6 exons (PB)

43

DNA testing for Noonan syndrome – RAF1 – 3 exons (PB)

44

DNA XY– sex reversal – SRY (PB)

45

DNA testing for achondroplasia – FGFR3 – GLY 380 ARG (PB)

46

DNA testing for fragile X suspected positive sample conformation – sizing of CGG repeats for suspected positive samples (PB)

47

DNA testing for progressive familial intrahepatice cholestasis – 1 PFIC1 – all exons (PB)

48

DNA testing for progressive familial intrahepatice cholestasis – 2 PFIC2 – all exons, (PB)

49

DNA testing for beta – Thalassemia – all exons (PB)

50

DNA testing for beta – Thalassemia – prenatal diagnosis package (parents + fetus) – all exons (PB/CVS/AF)

51

DNA testing for beta – Thalassemia – prenatal diagnosis –known mutation (CVS/AF)

52

DNA testing for Costello syndrome – HRAS – exon 1, PB

53

DNA testing for Costello syndrome – HRAS – coding sequences (PB)

54

DNA testing for connexin 26 – coding sequence, (PB)

55

DNA testing for connexin 43 – coding sequence, (PB)

56

DNA testing for spinal muscular atrophy (SMA) – homozygous deletion exon 7 of SMN gene, (PB)

57

DNA testing for spinal muscular atrophy (SMA) – prenatal diagnosis homozygous delection exon 7 of SMN gene (CVS/AF)

58

Karyotyping , products of conception (POC)

59

Karyotyping, skin biopsy (SB)

60

Karyotyping, fetal heart blood (FHB)

61

Karyotyping, bone marrow (BM)

62

Karyotyping for chromosome breakage syndrome, (PB)

63

Karyotyping, chorionic villi sampling (CVS)

64

Karyotyping, amniotic fluid (AF)

65

Karyotyping, fetal blood sampling (FBS)

66

C Banding

67

NOR Banding

68

Karyotyping (PB)

69

Genetic counselling


GOMED (Genomics and other omics tools for Enabling Medical Decision) an outreach programme initiated at CSIR–IGIB is made available at MMM-CGSR bringing equitable access to genetic testing for frequent genetic diseases by providing free diagnosis.

  • Reproductive Genetics
  • - Genetic aspects of male and female factor infertility,
    - Genetic aspects of bad obstetric history with special reference to recurrent pregnancy loss, in vitro failure

  • Cardiac Genetics
  • - Genetic aspects of congenital heart diseases, dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmia, and other rare cardiac genetic diseases.

  • Signed MoU with CSIR–IGIB, Delhi to carry out multidisciplinary research regarding:
  • - Genomic approaches towards understanding mutations and biology of rare cardiac genetic diseases and development of approaches for rapid diagnosis or screening.
    - Collaborative research in the application of genomics in clinical practice related to genetic diseases and genetic traits especially those prevalent in the region.

  • 3 months Certificate Course titled “Advanced Course in Clinical and Molecular Cytogenetics”
  • 1 year PG Diploma Course in Human Cytogenetics*
  • Project for a period of 6 months.
  • Internship (15 days) on:
  • Clinical and Molecular Cytogenetics
  • Basic Molecular Techniques*
  • *Yet to be established

Publications

  1. Gunalan B, Joseph B, Jyothi S, Sundar R, Sangeetha S, Bibhas Kar (2012) Isolation and preliminary screen of bioactive fractions from different microbial isolates towards construction of a microbial drug bank. Int J Drug Design Dis. 3(2): 753-756.

  2. Jyothi S, Sivamani S, Joseph B, Gunalan B, Moganti V, Bibhas Kar (2012) Effect of bioactive compound from endophytic fungus in anxiety induced zebrafish animal model. In: Proc. of SBTI - Current Scenario in Biotechnology, Bloomsbury Publishing India Pvt. Ltd., New Delhi, 351-364.

  3. Sivamani S, Jyothi S, Joseph B, Gunalan B, Venkatesh B, Bibhas Kar (2013) Synthesis of antibacterial silver nanoparticles from tea powder. Int J Nanosci & Nanotech. 4(1): 9-17.

  4. Sivamani S, Bibhas Kar (2013) Adult zebrafish as a new animal model to study anxiety. Asian J Exp Biol Sci.4(2): 167-171.

  5. Sivamani S, Joseph B, Nishwetha K, Bibhas Kar (2013) Zebrafish as a model for bioavailability testing of over the counter drug. Int J Drug Dev & Res. 5(2):159-163.

  6. Bibhas Kar, Sivamani S (2013) Zebrafish: An in vivo model for the study of human diseases. Int J Genet & Genom. 1(1): 6-11.

  7. Sivamani S, Joseph B, Bibhas Kar (2013) Zebrafish: An in vivo model for the study of liposome mediated drug delivery. Int J Mol Genet. 3(1): 53-61.

  8. Sivamani S, Joseph B, Bibhas Kar (2014) Anti-inflammatory activity of Withania somnifera leaf extract in stainless steel implant induced inflammation in adult zebrafish. J Genet Eng & Biotech. 12: 1-6.

  9. Bibhas Kar (2014) Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46,XX,der(21)t(21;22) with pericentric inversion of chromosome 9. J Postgrad Med. 60(4): 413.

  10. Bibhas Kar, S. Sivamani (2015) Apoptosis: Basic concepts, mechanisms and clinical implications. Int J Pharm Sci Res. 6(3): 940-950.

  11. Bibhas Kar, S. Sivamani, K. Sivakumar (2015) Varying clinical presentation of Williams syndrome: A case series. Int J Hum Genet. 15(2): 51-54.

  12. Bibhas Kar, S. Sivamani, S. Kundavi, T.R. Varma (2015) Complete androgen insensitivity syndrome in three generations Indian pedigree. J Obstet Gynaecol India. DOI: 10.1007/s13224-015-0736-3.

  13. Sivamani S, Joseph B, Bibhas Kar (2016) Zebrafish: An emerging model system for drug discovery. Asian J Pharm Clin Res. 9(4): 1-4.

  14. Bibhas Kar, Sivamani S (2016) Directory of genetic test services and counselling centres in India. Int J Hum Genet. 16(3,4):148-157.

  15. Bibhas Kar, Sivamani S, Shajeev J, Sivakumar K  (2017) Unusual hand malformation with cardiac defect: A rare presentation. Int J Hum Genet. 17(1): 11-14.

  16. Bibhas Kar, Sivamani S, Sivakumar K (2017) A rare sex chromosome aneuploidy: 49,XXXXY syndrome with pulmonary atresia and ventricular septal defect.  Open J Clin Med Case Rep. 3(12):1-4.

  17. Bibhas Kar, Sivamani S, Kundavi S, Varma TR (2017) The importance of cytogenetics and associated molecular techniques in the management of patients carrying Robertsonian translocation and their pregnancy outcome by intracytoplasmic sperm injection. J Obstet Gynaecol India. DOI: 10.1007/s13224-017-0999-y

  18. Bibhas Kar, Linda B (2017) Genetic Factors Associated with Recurrent Pregnancy Loss. Obstet Gynecol Int J. 7(6):00272. DOI: 10.15406/ogij.2017.07.00272

  19. Bibhas Kar, Afreen Aftab (2018) Preimplantation Genetic Diagnosis in India: The Current Scenario and Potential Developments. J. Fetal Med. DOI: 10.1007/s40556-018-0159-1.

  20. Bibhas Kar, Shamsudheen Karuthedath Vellarikkal, K. Sivakumar, S. Sivamani, Rajesh Kumar, Ankit Verma, Anoop Kumar, Rijith Jayarajan, Rowmika Ravi, Ambily Sivadas, Vinod Scaria, Sridhar Sivasubbu (2017) Integrative Analysis of Whole Exome Sequence Data to Aid Diagnosis of a Case of Autosomal Recessive Dilated Cardiomyopathy. J Pract Cardiovasc Sci. 3(1).

  21. Linda B, Sumathy A, Indumathy M A, Thakam R Varma, Swathi Shetty, Jayarama S Kadandale, Bibhas Kar (2018)Localization of the SRY gene on Chromosome 3 in a Patient with Azoospermia having a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Cytogenet Genome Res.2018;156(3):134-139. DOI: 10.1159/000494464

  22. Afreen Aftab, Kundavi S, Bibhas Kar (2018) Extra G positive band on long arm of chromosome 9 and long Y chromosome in patient presenting with infertility – A case report. J Clin Diagn Res.DOI: 10.7860/JCDR/2018/37442.12159

  23. Kar B. (2018) Advancements in Neurogenetics and Genomics - Editorial. Ann Neurosci. (Supp) 25(5);1-23.

  24. Afreen Aftab, Thankam Varma, Bibhas Kar (2019) A rare case of de novo balanced reciprocal Y:1 chromosomal translocation in patient presenting with azoospermia. Andrologia. DOI: 10.1111/and.13246

  25. Linda C. Barnabas1, Kundavi Shankar, Bibhas Kar (2019) Telomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency.J. Obstet. Gynaecol. Res.DOI:10.1111/jog.14098

  26. Ronak Sheth, Kothandam Sivakumar, Bibhas Kar (2019) Congenital Cardiac Defects in Trisomy 18: A Case Series. Ind J Genet Mol Res.DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.8119.6

Conference Presentations:

  1. Joseph B, Gunalan B, Jyothi S, Bibhas Kar. Cicer arietinum sprout extract promotes stem cell regeneration in the zebrafish model. XXXV All India Cell Biology Conference, National Institute of Scientific Education & Research (NISER), Bhubaneswar. December 16-18, 2011.

  2. Jyothi S, Sivamani S, Joseph B, Gunalan B, Moganti V, Bibhas Kar. Effect of bioactive compound from endophytic fungus in anxiety induced zebrafish animal model. Annual Meeting of the Society for Biotechnologists (INDIA) and the National Conference on “Current Scenario in Biotechnology”, K.S.R College of Technology, Tiruchengode. September 27-29, 2012.

  3. Bibhas Kar, Praveena KK, Kundavi S, Varma TR, Kadandale JS. Cytogenetics and Y chromosome microdeletion screening of infertile males with azoospermia and Oligospermia. 38th Annual Conference of the Indian Society of Human Genetics (ISHG 2013): Genomics and Community Health and International Symposium on Developmental and Complex Disorders. Banaras Hindu University, Varanasi. December 9-11, 2012.

  4. Sivamani S, Jyothi S, Joseph B, Gunalan B, Venkatesh B, Bibhas Kar. Synthesis of antibacterial silver nanoparticles from tea powder. National Conference on Nanomaterials (NCN 2012), Karunya University, Coimbatore. December 3-4, 2012.

  5. Sivamani S, Joseph B, Bibhas Kar. Expression of TNFα gene in stainless steel implant induced zebrafish. The Centenary Session of the Indian Science Congress, University of Calcutta, Kolkata. January 3-7, 2013.

  6. Bibhas Kar, Praveena KK, Suresh Kumar R, Mullasari Ajit S, Vimalarani A, Kadandale JS. Molecular cytogenetics characterization of 22q11.2 deletion in patients with tetralogy of fallot. HGM 2013 & 21st International Congress of Genetics, Marina Bay Sands, Singapore. April 13-18, 2013.

  7. Bibhas Kar, Sivamani S, Kundavi S, Varma TR. Sensorineural hearing loss and male infertility a case report. 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium – Genomics into Healthcare, Dubai, United Arab Emirates. November 17–19, 2013.

  8. Sivamani S, Joseph B, Bibhas Kar. Zebrafish: An in vivo model for the study of liposome mediated drug delivery. XXXVII All India Cell Biology Conference and Symposium on Cell Dynamics and Cell Fate. Indian Institute of Science, Bangalore. December 22-24, 2013.

  9. Bibhas Kar, Sivamani S, Kundavi S, Varma TR. ICSI outcome in infertile males presented with globozoospermia. 20th International Chromosome Conference (ICCXX).University of Kent, Canterbury, UK, September 1-5, 2014.

  10. Sivamani S, Sivakumar K, Bibhas Kar. Sex chromosome pentasomy 49,XXXXY syndrome with pulmonary atresia and ventricular septal defect: a case report. 20th International Chromosome Conference (ICCXX). University of Kent, Canterbury, UK, September 1-5, 2014.

  11. Bibhas Kar, S. Sivamani, G Kalpana, K Sivakumar. Clinical and molecular cytogenetic characterization of Williams syndrome. 64th Annual Meeting of the American Society of Human Genetics (ASHG 2014). San Diego, California, USA. October 18-22, 2014.

  12. Bibhas Kar, S Sivamani, J. Shajeev, K. Sivakumar. A heart with a open hole and deformed hand: Is there a connection? 6th Pan Arab Human Genetics Conference (PAHGC 2016). Al Bustan Rotana, Dubai, January 21-23, 2016.

  13. Sumathy A, Sivamani S, Kundavi S, Varma TR, Bibhas Kar. Robertsonian translocation 15;22, in a patient with recurrent spontaneous abortion – A case report. 41st Indian Society of Human Genetics Annual Meeting & International Conference. Chennai. March 3-5, 2016.

  14. Sivamani S, Kundavi S, Varma TR, Bibhas Kar. Balanced Robertsonian translocation in males and their consequences for pregnancies induced by intracytoplasmic sperm injection. 41st Indian Society of Human Genetics Annual Meeting & International Conference, Chennai, March 3-5, 2016.

  15. Bibhas Kar, Shamsudheen KV, Sivamani S, Sivakumar K, Rajesh K, Rijith J, Verma A, Scaria V, Sridhar S. Integrative analysis of whole exome sequence data to aid diagnosis, prognosis and therapy - a case of autosomal recessive dilated cardiomyopathy. Global Summit on Rare Diseases and Orphan Drugs (GROD),Dubai, November 15-17, 2016.

  16. Bibhas Kar, Shamsudheen KV, Sivakumar K ,Sivamani S, Rajesh K, Verma A, Anoop, Rijith J, Rowmika, Ambily, Scaria V, Sridhar S. Integrative analysis of whole exome sequence data to aid diagnosisa case of autosomal recessive dilated cardiomyopathy. 14th International Conference of Heart Research (Indian Section) - Genomeet 2017, IGIB, Delhi, January 27-29, 2017.

  17. Bibhas Kar, Vellarikkal S. K., Sivakumar K., Sivamani S., Rajesh Kumar, Ankit Verma, Anoop Kumar, Rijith Jayarajan, Rowmika Ravi, Ambily Sivadas, Vinod Scaria, Sridhar Sivasubbu. Integrative analysis of whole exome sequence data to aid diagnosis of a case of autosomal recessive dilated cardiomyopathy. 14th Annual Meeting of International Society for Heart Research. January 27-29, 2017. Journal of the Practice of Cardiovascular Sciences. 3(1), S34-S35; April 2017.

  18. Swapna Yaramareddy, Subha Rajinikanth, Lakshmi Shanmugasundaram, Bibhas Kar, Thankam R. Varma. Familial 22q11.2 Deletions in DiGeorge/Velocardiofacial Syndrome: Pregnancy Options and Management. 2nd MMM Genetics Meeting 2017Symposium on “Genetics & Genomics in Cardiovascular Diseases”. September 8-9, 2017. Advances in Cardiology and Cardiovascular Disorders. 1(1); 2017.

  19. Linda Catherine B., Bibhas Kar Congenital Heart Disease and Their Association with Genetic Syndromes Observed In Paediatric Cases. 2nd MMM Genetics Meeting 2017 Symposium on “Genetics & Genomics in Cardiovascular Diseases”. September 8-9, 2017. Advances in Cardiology and Cardiovascular Disorders. 1(1); 2017.

  20. Swapna Yaramareddy, K. Sivakumar, Bibhas Kar, Thankam R. Varma. Familial Bicuspid Aortic Valve in Pregnancy – A Case Report. 2nd MMM Genetics Meeting 2017 Symposium on “Genetics & Genomics in Cardiovascular Diseases”. September 8-9, 2017. Advances in Cardiology and Cardiovascular Disorders. 1(1); 2017.

  21. Santosh R. Wadile, K. Sivakumar, Bibhas Kar. DiGeorge Syndrome [22q11.2 Microdeletion] in a Critically Sick Neonate with Duct Dependant Systemic Circulation and Refractory Hypocalcemic Seizures. 2nd MMM Genetics Meeting 2017 Symposium on “Genetics & Genomics in Cardiovascular Diseases”. September 8-9, 2017. Advances in Cardiology and Cardiovascular Disorders. 1(1); 2017.

  22. M S Ravindra, K. Sivakumar, Bibhas Kar. Williams-Beuren syndrome: 7q11.23 deletion. 2nd MMM Genetics Meeting 2017 Symposium on “Genetics & Genomics in Cardiovascular Diseases”. September 8-9, 2017. Advances in Cardiology and Cardiovascular Disorders. 1(1); 2017.

  23. Ronak Sheth, K. Sivakumar, Bibhas Kar. Congenital Cardiac Defects in Trisomy 18 – Challenges and Dilemmas. 2nd MMM Genetics Meeting 2017 Symposium on “Genetics & Genomics in Cardiovascular Diseases”. September 8-9, 2017. Advances in Cardiology and Cardiovascular Disorders. 1(1); 2017.

  24. Gayathri Satpathy, Linda B., Kundavi S., Indumathi M. A., Thankam R Varma, Bibhas Kar. Chromosomal abnormalities and polymorphisms among couples with recurrent miscarriage. 61st All India Congress of Obstetrics & Gynecology. January 17-21, 2018.

  25. Kar B., Linda B. , Sumathy  A., Indumathi  M. A., Varma T. R., Shetty S., Kadandale J. S. Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10) in an Azoospermic Male with the SRY gene located on Chromosome 3. 22nd International Chromosome Conference. September 2-5, 2018.

  26. Kar B., Linda B., Aishwarya P., Kundavi S. Telomeric association involving chromosomes Y and 19 in a patient with premature ovarian insufficiency. American Society of Human Genetics. October 16-20, 2018.