CURRICULUM VITAE 1. Name : Dr. Supriya P. Phanasgaonkar 2. Maiden Name : Dr. Sangeeta Naik Desai 3. Date of Birth : 15thApril, 1962. 4. Nationality : Indian 5. Marital Status : Married. 6. Address : Department of biomedical sciences, College of Medicine in Al-Ahsa, King Faisal University Kingdom of Saudi Arabia. 7. Fields of Specialization: Thalassemia and Haemoglobinopathies - Biochemical and Molecular Genetics. 8 . Research interest : Epigenetics, Gene Expression. Academic Qualifications Degree University Year Subject B. Sc. Bombay 1982 Microbiology M. Sc. Bombay 1988 Applied Biology S. Pr. Allahabad 1988 Indian Classical Music B.A.S.M. Alma Atta 1992 Alternative Medicine M.D. Alma Atta 1994 Alternative Medicine Ph. D Bombay 2004 Applied Biology D.Sc. Bombay Submitted Biochemistry Topic of Thesis: 1) M.Sc.: Usefulness of globin chain electrophoresis for the detection of thalassemia at birth. 2) Ph.D.: Haematological, biosynthetic and molecular studies on alpha thalassaemia syndromes in India. 3) D.Sc.: Prevention and Control of Thalassaemia & Haemoglobinopathies in India. Languages Known (Read/Write/Speak): German, Russian, French and English. Merit Scholarships Year Title Awarded by 1977 1982 Govt. Open Merit Scholarship Maharashtra State Board. 1 1977 1982 College Open Merit Scholarship Wilson College, Mumbai. Awards and Prizes 1. Renwick Memorial Prize in Chemistry in second year junior college - 1978 2. The D.B.Naik Memorial Prize-1979 3. V.N.Crevante Prize-1980 4. The Prof.Hate Prize-1980 5. The Madhav Prabhavalkar Scholarship-1980 6. D.K.Ketali Scholarship-1980 7. The Prof. H.R.Hamley Prize-1982 8. Dr. Frazer Comm. Prize-1982 9. The Vishnu Sadashiv Sohoni Prize-1982 10. The Rev. Dr. Mackichan Science Prize-1982 11. Jyotish Bharti – Shree Shankar Jyotir Vidyalay , 1997. 12. Jyotish Kaustubh – Abhijeet Astrological Academy,1998. 13. Jyotish Brihaspati – Krishnamoorthy Jyotish Vidyan Mandalam,1999. 14. Vastu Shastra Visharad– Shree Samartha Jyotir Vidyalay,1999. 15. Nakshatra Jyotish Ratna – Shree Ganesh Jyotir Vidyalay , 2000. 16. Jyotish Brihaspati – Krishnamoorthy Jyotish Sanshodhan Mandalam, 2001. 17. First prize in Hindi essay competition during Hindi Pakhawada on 25th Mar’ 2004. 18. Young Scientist Award to the paper entitled "An evaluation of a new Discrimnant Function for the diagnosis of thalassemia" by Desai Sangeeta N. at Ann. Confr. Ind. Soc. Hum. Genet., Bhubaneshwar, Jan’ 1992. 19. Dr. B.C. Mehta diamond jubilee endowment Best Paper Prize in the “Original Article” section has been awarded to the paper entitled “Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of the common Indian thalassemia syndromes” by Colah R.B., Gorakshakar A.C., Lu C.Y., Nadkarni A.H., Desai S.N., Lulla C.P., Krishnamoorthy R. and Mohanty D. Published in the Ind. J. Hematol. Blood Transf. in the year 1997. 20. Best Poster Award for the poster entitled “Identification of a rare -thalassemia mutation codon 121 (GT) in a family from Karnataka” by A.C. Gorakshakar, A. Nadkarni, S. Phanasgaonkar, R. Colah and D. Mohanty presented at 40th Annual Conference of Ind. Soc. of Hematol. & Transf. Med. held in Pune from 9th –12th December 1999. Carrier related Activities Position Organization in Mumbai year Haematologist Rotary clubBombay Mid-West 1986 – 1992 Haematologist Inner wheel club 1992 1994 Medical Astrologer Ganesh Jyotish Mandal 1996 1998 2 Medical Astrologer Jyotish Prabodhan Kendra 1999 onwards Avocations: 1. Indian Classical Music 2. Indian Classical Dance- Bharat Natyam 3. Astrology- Krishnamoorthy Padhat, Palmistry, Numerology, Medical Astrology etc. 4. Designing Mathematical formulae for the diagnosis 5. Designing Astrological formulae for prediction 6. Vastu Shastra & Fenshui Professional Affiliations 1. Bombay Hematology Group Life Member. 2. Indian Society of Human Genetics Life Member. 3. Indian Society of Hematology and Blood Transfusion – Life Member. 4. Indian Women scientist Association – Life Member. 5. 6. Bioinformatics.Org - associate membership Professional Experience 1. January 1984 to January 1990 – Laboratory Technician, Institute of Immunoheamatology, Mumbai. 2. January 1990 onwards – Research .Assistant, Institute of Immunoheamatology, Mumbai. 3. April 2008 onwards – Tech. Officer, National Institute of Immunoheamatology, Mumbai. . 4. February 2009 onwards – Ast Prof of Pathology, College of Medicine, King Faisal University, Al-Hassa, Kingdom of Saudi Arabia. Teaching Experience 1. Participating as a faculty member in the Annual Training Programme of IIH in 'Blood Bank Technology' for Blood Bank Medical Officers & Technicians since 1983. 2. Participating as a faculty member in the 'Training course in advanced haematology and Immunohaematology for Senior Research Workers, Assistant Professors etc. since 1994. 3. Ast. Professor of biomedical sciences at College of Medicine, King Faisal University. Administrative Experience 1. Conducting practical training to Blood Bank Officers and Technicians. 2. Conducting practical training in Advanced Haematology Course. 3. Conducting practical training in Adhoc training Course. 4. Scientific assistance in holding the Conferences and Workshops organized by Institute of Immunohaematology. 5. As a faculty member in Maharashtra state IAP Conference,1996. 6. As a faculty member in DBT Workshop on Molecular Technology in Haematology, 17th June-10th July 1998. 3 7. As an Executive Member in Bombay Haematology Group, 1998. 8. As a faculty member in 1st Conference of South Asian Pacific Society of Human Genetics & 24th Annual Conference of the Indian Society of Human Genetics; Mumbai, Feb' 1999. 9. As a faculty member of 23rd Annual Conference of the Bombay Haematology Group, Feb' 1999. 10. As a faculty member of CME Progamme of 23rd Annual Conference of the Bombay Haematology Group, Feb'1999. 11. As a faculty member of Indo-European Symposium and Workshop on Cytogenetics and Molecular Genetics, Dec'1999. Participated in the following National Workshops 1. Officer's training workshop on “Safety aspects in the research application of ionizing radiations” on 624th Aug'1984, at Bhabha Atomic Research Center, Mumbai. 2. Workshop on "Chromatographic methods of separation" on 11-14th Feb'1994, at Garware Institute of Career Education and Development, Mumbai. Worked on the following projects of the department of Haematogenetics at Institute of Immunohaematology as a team member 1. Multicentric task force project of Indian Council of Medical Research on "Collaborative study of thalassemia" where a large survey of thalassemia and its variants in high school children in Bombay was undertaken (1984 – 1988). 2. Establishment of a center for Prenatal Diagnosis of Haemoglobinopathies first time in India. 3. Multicentric task force project of Indian Council of Medical Research on "Collaborative study of thalassemia" where a large scale screening of cord blood samples for thalassaemia was undertaken (1984 – 1988). 4. Establishment of a center for “Molecular Genetics of Inherited Haematological Disorders” sponsored by Dept. of Biotechnology, Govt. of India (1997–1999). 5. Multicentric "Jai Vigyan project” of Indian Council of Medical Research on “Community control of thalassemia” where a large survey of thalassemia and its variants in high school children in Bombay was undertaken (2000 – 2005). 6. Multicentric "Jai Vigyan project” of Indian Council of Medical Research on “Community control of thalassemia” where a large survey of antenatal women from maternity hospitals in Bombay for thalassemia and its variants was undertaken (2000 – 2005). International Collaborations / Workshops 1. Participated in Indo-USSR Collaboration on "Evaluation of a new Russian Preservation Solution for blood and packed red cell" under the programme on Blood Transfusion and Hematology (1985-1987) 2. Participated in Indo–French workshop on “Recombinant DNA Technology for Gene Mapping of Hemoglobinopathies “Bombay, Nov’ 1986. 4 3. Participated in Indo-UK workshop on “Thalassemia and other Hemoglobinopathies.” Bombay, Nov’ 1991. 4. Participated in Indo-French Project on “Molecular Genetics of Major Hemoglobinopathies in India” funded by Indo–French Centre for Promotion of Advanced Research. (1992 to 1995). 5. Participated in Indo-French Project on "Thalassemia in the Indian Subcontinent-"Prevention and Clinical Management" Funded by INSERM, Paris, France (1995-1997). 6. Participated in Indo–European Symposium and Workshop on “Cytogenetics and Molecular Genetics”, Mumbai, Dec’ 1999. Familiar with the following techniques 1. RBC enzyme assays and estimation of biochemical intermediates in the glycolytic EMP pathway and HMP shunt. 2. Electrophoretic techniques using cellulose acetate, filter paper, agar gel and polyacryl amide gel matrices for separation of hemoglobins and globin chains. 3. Chromatography – a) DE52 Micro column for HbA2 quantitation b) Fast Protein Liquid Chromatography (FPLC) c) Low pressure Liquid Chromatography (Biorad variant automated system) 4. Iso-electric focusing for separation of haemoglobins. 5. Globin chain biosynthesis & second trimester prenatal diagnosis of Haemoglobinopathies 6. Molecular analysis for Haemoglobinopathies –a) Southern blot hybridization b) Restriction cleavage analysis c) Reverse Dot Blot hybridization d) Amplification Refractory Mutation System e) Denaturing Gradient gel electrophoresis f) Sequencing. g) Cell culture h) transfection i) cloning J) Real-time PCR k) DNA Methylation 7. First trimester prenatal diagnosis of Haemoglobinopathies. 8. Flow cytometry – Foetal NRBCs cell sorting for non-invasive prenatal diagnosis of Thalassaemia & haemoglobinopathy. 9. Variable Number of Tandem Repeats (VNTR) loci for checking acceptance of bone marrow transplant, quality of CVS sample for maternal contamination, paternity dispute in cases where mutation of CVS sample does not match with paternal haemoglobinopathy allele. 10. SNP analysis. 11. STR analysis. 5 12. Mitochondrial DNA studies. 13. Statistical methods like Gene Frequency, Allele Number, Gene Diversity, Genetic Distance, Gene Flow, Dendrogram, F- Statistics, Chi- square test, p-value etc. 14. Microscopy to look for red cell membrane defects (light & luorescent microscopy). 15. Epigenetic studies in ALL patients. Research Experience For the last twenty seven years, I have been actively involved in various research projects on Haemoglobinopathies and Erythroenzymopathies. 1. Involved in standardization and quality control of various techniques for the detection of Haemoglobinopathies. Major achievement being my direct involvement with the research team concerned with Prenatal Diagnosis and Prevention of Thalassaemia and Haemoglobinopathies. 2. Large scale screening of cord blood samples (> 6000) for the detection of Alpha Thalassaemia and family follow-up for the characterization of genotypes. 3. Usefulness of globin chain electrophoresis technique for the detection of thalassaemia at birth.- M.Sc. desertation. 4. Efficacy of an Exchange Transfusion - Whether 2 or 1,1/2 volume sufficient for an Exchange Transfusion. 5. Globin chain synthesis in Thalassaemia syndromes. 6. Large scale screening of school children for G6PD deficiency. 7. Comparison of Russian CGPA anticoagulant blood preservative with an Indian CPDA-1 by studying various Red cell enzyme and metabolite markers, Plasma Hb, Blood Glucose level etc. 8. Evaluation of Russian Red cell blood preservative Erythronaph by studying various Red cell enzymes and metabolite markers, Plasma Hb, Blood Glucose level etc. 9. Inductive and retrospective screening of high risk group for prevention of -Thalassaemia. 10. Screening blood samples of vanishing tribes of Andaman for thalassaemia and other Haemoglobinopathies. 11. Comparison of FPLC with Cellulose Acetate electrophoresis technique for the detection of Thalassaemia and abnormal Haemoglobins. 12. Designed a new Discriminant Function for the Diagnosis of -thalassaemia. 13. Investigations for the Haemoglobinopathies resulted in identification of some interesting cases such as Homozygous HPFH (first time in India), Homozygous Hb Q (first time in the World), Hb J-Paris, very rare entity Hb H disease, Hb Lepore, Hb DAgri, Hb DIran etc. 14. Second trimester prenatal diagnosis of thalassaemia and haemoglobinopathies by globin chain synthesis technique. 15. Fast protein liquid chromatography for separation of various abnormal haemoglobins. 16. First Trimester Prenatal Diagnosis of Thalassaemia and Haemoglobinopathies by chorionic villus tissue analysis by molecular techniques. 6 17. Evaluation of Haemoglobin Variant System Kit of BIO-RAD for second trimester prenatal diagnosis of thalassaemia and haemoglobinopathies. 18. Haematological, biosynthetic and molecular studies on alpha thalassaemia syndromes in India – Ph.D. Desertation. 19. Screening of Leukemia patients for hereditary and acquired -thalassaemia. 20. Molecular characterization of alpha thalassemia established by Southern Blot hybridization. 21. Molecular characterization of thalassemia established by BIO-RAD Alpha thal kit. 22. Established VTNR studies for detection of maternal contamination in chorionic villus samples in prenatal diagnosis of haemoglobinopathies. 23. Established VTNR studies for the detection of paternity dispute whenever the mutation in chorionic villus samples in prenatal diagnosis of haemoglobinopathies does not match with father’s mutation. 24. VTNR studies on the Great Andamanese - A primitive Negrito tribe of Andaman and Nicobar Islands, India. 25. VTNR studies on the rare tribes and caste groups of India. 26. VTNR studies for checking of of acceptance of bone marrow transplantation done for haemoglobinopathies. 27. Helped in developing and now Patent granted in January 2005;No.194149). 28. Methylation studies in acute myeloid leukemia. Major Research Achievements 1. Investigated several cases of unexplained hemolytic anemia and neonatal jaundice for red cell enzymopathy (G6PD, HK, PFK, GPI, LDH, PK, methaemoglobin reductase etc.) as a cause of haemolysis. 2. Established different electrophoretic techniques for identification of abnornal haemoglobins and unstable Hbs using cellulose acetate, starch gel, agar gel, disc and thin layer polyacrylamide gel electrophoresis isoelectric focussing and Haemoglobin Variant System Kit of BIO-RAD. 3. Participated in the multicentric ICMR task force project on "Collaborative study of thalassemia" where a large survey of thalassemia and its variants in high school children in Bombay was undertaken along with cord blood screening for thalassaemia. 4. Evaluated the use of NESTROFT for preliminary screening for thalassemia in high-risk populations, antenatal women and the general population. 5. Worked for detection of thalassemia heterozygotes in high-risk Sindhi & Gujarati communities in collaboration with Rotary Club, Bombay, Mid West. Camps were organized in the colonies of high risk communities to identify maximum numbers of thalassemia traits among them Time period : 8 years. 6. Established the first center in India for Prenatal diagnosis of thalassemia in the second trimester by fetal blood analysis (globin synthesis and isoelectric focusing). 7 7. The spectrum of thalassaemia mutations in Indians was determined by molecular characterization using reverse dot blot hybridization, ARMS, DGGE and DNA sequencing. 8. First trimester prenatal diagnosis of hemoglobinopathies on chorionic villus tissue samples by DNA analysis using PCR based approaches were established. 9. Participated in the multicentric ICMR task force project on "Jai Vignyan project on prevention of thalassemia" where a large survey of thalassemia and its variants in college students of Bombay was undertaken. 10. Participated in the multicentric ICMR task force "Jai Vignyan project on prevention of thalassemia" where a large survey of thalassemia and its variants in pregnant women from maternity hospitals of Bombay was undertaken. Conferences, Seminars, workshops attended and Papers presented 1. VIIIth Ann. Conf. Bomaby Hematol Gp., Bombay, Feb., 1983. 2. IXth Ann. Conf. Bomaby Hematol Gp., Bombay, Feb., 1983. 3. Attended First National Seminar cum Workshop on "Thalassemia & hemoglobinopathies" Bombay on 79th September 1984. 4. Officer's training course on “Safety aspects in the research application of ionizing radiations” on 6-24 th Aug'1984, Mumbai. 5. Xth Annual Conference of Bombay Haematology Group, Feb' 1985. 6. Second National Conference on Iron Deficiency Anaemia,26-28 th Oct'1985, Mumbai. 7. National Seminar on Neonatal Jaundice – An update, Jerbai Wadia Hosp., Bombay, Sept. 1985. 8. National Conference on Blood Banking and Blood Transfusion.14-15th Sept'1985, Mumbai.- “Efficacy of an Exchange Transfusion”. 9. National Congress of Perinatology,7-9th Feb'1986,Mumbai.-“Efficacy of an Exchange Transfusion”. 10. 2nd National Conf. On Iron Deficiency Anemia, K.E.M. Hosp., Bombay, Oct. 1985. 11. National Congress of Perinatology,7-9 th Feb'1986,Mumbai.- Efficacy of an Exchange Transfusion. 12. XIth Annual Conference of Bombay Haematology Group, Feb'1986. 13. Indo - French Workshop on DNA Technology for Gene Mapping of Haemoglobinopathies. 10-21st Nov'1986. 14. XIIth Annual Conference of Bombay Haematology Group, Feb '1987. 15. VIth Congress of the International Society of Haematology and Asian Pacific Division, 6-10th Dec' 1987, Bangkok.- Alpha thalassaemia in India. 16. XIIIth Annual Conference of Bombay Haematology Group, Feb' 1988. 17. Antenatal diagnosis of Hemoglobinopathies – Laboratory aspects.1st National workshop and Seminar on ‘Neonatal Hematology and Oncology.’ Bombay, June, 1988. 18. XIVth Annual Conference of Bombay Haematology Group, Feb' 1989. 19. XVth Annual Conference of Bombay Haematology Group, Feb' 1990. 20. Poster session -1st National Congress on prenatal diagnosis and fetal therapy, Bombay, Sept’ 1990. 8 21. 2nd Internat. Conf. On Oral Chelation and 6th Annual Confr. of Thalassaemia and Sickle Cell Society of Bombay. Bombay, Nov’ 1990. 22. XVI th Annual Conference of Bombay Haematology Group, Feb' 1991. 23. Internat. Symp. cum Workshop on “ Anemia in Children” - Bombay, Feb’ 1991. 24. Indo-UK Workshop on thalassaemia and other hemoglobinopathies. 29th Nov'-1st Dec' 1991, Mumbai. 25. International Symposium on Science and Society & XVIIth Annual Conf. of Indian Soc. of Human Genetics.22-25th Jan' 1992, Bhubaneshwar – “Haematological and clinical profile in a case of Hb H disease”. 26. XVIIth Annual Conference of Bombay Haematology Group, Feb' 1992. 27.Symposium on “New Technologies“ at XVIIth conference of Ind. Soc. Blood Transf and Immunohaematology. Bombay, Feb’ 1992. 28. International Symposium on Human Genetics and Variation & XVIIIth st Society of Human Genetics.19-21 Annual Conference of Indian Jan'1993, Hyderabad.-“An evaluation of a new Discriminant Function for population screening to identify -thalassaemia trait” (Young Scientist Award presentation). 29. Indo-French seminra on Sickle cell anaemia - Bombay, Mar’ 1993. 30. International Conference on Thalassaemia on 27-28 th Nov' 1993, Mumbai. 31. XXXIVth Annual Conference of Indian Society of Haematology & Blood Transfusion and XVh Annual Conference of Bombay Haematology Group,17-19th Dec' 1993, Mumbai.- “Comparison of FPLC and Cellulose Acetate electrophoresis technique for the detection of Thalassaemia trait” (Award presentation). 32. XXXVth Annual Conference of Indian Society of Haematology & Blood Transfusion and XVth Annual Conference of Bombay Haematology Group, 17-19th Dec' 1993, Mumbai.- “Haemoglobin Q Disease”. 33. International Conference on Human Genetics and Family Welfare & XIXth Annual Conference of Indian Society of Human Genetics.3-5th Dec'1993, Poona. “A unique case of homozygous HPFH in an Indian”. 34. Indo-US Symposium on Gene Therapy,7 th Mar ' 1994, Mumbai. 35. Workshop on "Chromatographic methods of separation", 11-14 th Feb'1994, Mumbai. 36. XIXth Annual Conference of Bombay Haematology Group, Feb' 1994. 37. Popular Lecture Series: Biotechnology in Health Care sponsored by Department of Biotechnology, Govt. of India, Bombay Feb. 1994. 38. Indo-British Seminar and Workshop on "Thalassemia Control" 23-25 th Sept' 1994, Mumbai. 39. Ranbaxy Science Foundation, First Annual Symposium on Molecular Genetics and Gene Therapy The New Frontier. Sept'1994, N.Delhi. 40. Seminar on Genetic Epidemiology and XXth Annual Conference of Indian Society of Human Genetics.11-13th Dec' 1994,Hyderabad.- “Alpha Thalassaemia syndromes in India”. 41. XXth Annual Conference of Bombay Haematology Group, Feb'1995 42. International Symposium on Intravenous IgG and Cytokines in Pediatric Haematology, Sept' 1995. 43. VIIth Maharashtra state Indian Academy of Pediatrics Conference, 10-13th Oct' 1996, Mumbai. 44. XXIth Annual Conference of Bombay Haematology Group, Feb'1996. 9 45. Demonstration of Hb electrophoresis given in the workshop on “Anemia in children”. VIIth Maharashtra State-Indian Association of Pediatrics Conference, Bombay, Oct’ 1996. 46. VII th Maharashtra State Indian Association of Pedriatics conference Mumbai. Nov’ 1996. 47. XXIIth Annual Conference of Bombay Haematology Group, Mar' 1997. 48. Indian Academy of Pediatrics and Pediatric Haematology - Oncology Chapter and First National Conference on Pediatric Haematology - Oncology, 8 - 9 th Nov' 1997, Mumbai. 49. ICMR-DBT Brain Storming Session on Hemoglobinopathies, Mumbai April 1997. 50. Satellite Symposium on standard practices in Haemopoietic Transplantation. 25th Nov' 1997, Mumbai. 51. XXIIIth Annual Conference of Bombay Haematology Group, Feb '1998. 52. CME Programme of XXIIIth Annual Conference of Bombay Haematology Group, Feb' 1998. 53. Demonstration of molecular techniques in the DBT workshop on Molecular technology in Hematology at Institute of Immunohaematology Mumbai. 17th June-10th July 1998. 54. International Symposium on Haemopoietic Transplantation. Nov' 1998, Mumbai. 55. CME Foundation of Lilavati Hospital - An Update in Haematology, 19th Dec' 1998, Mumbai. 56. First Conference of South Asian Society of Human Genetics and the XXIVth Annual Conference of Indian Society of Human Genetics.1-3rd Feb' 1999, Mumbai. 57. First Sysmax Scientific Seminar with International faculty organized by Sysmax & Transasia, 10 th Oct' 1999, Mumbai. 58. Symposium on Hemoglobinopathies at Vth CME in Hematology and Hemato-Oncology, Bombay Hospital, Mumbai, May 1999. 59. The VIIth International Conference on Thalassaemia and Haemoglobinopathies & The IXth Thalassaemia Parents and Thalassaemics International Conference. 31stMay-4hJune 1999, Bangkok. – “Clinical, haematological and biosynthetic profile of Indian Haemoglobin H disease”. 60. Indo-European Symposium - Workshop on “Cytogenetics and Molecular Genetics” held in Mumbai on 3rd and 4th Dec’1999 and participated as a faculty member for practical training in the Workshop on “Molecular Diagnosis of Haemoglobinopathies”. 61. XXXXIst Annual Conference of Indian Society of Haematology & Blood Transfusion, 17-19th Dec' 2000, Bhubaneshwar.- “Interaction of an chain variant with thalassaemia”. 62. XXVth Annual CME, Bombay Hemat Gp., Nair Hospital, Mumbai, Feb’ 2000. 63. VIth CME in Hematology & Hemato-Oncology, Bombay Hospital, Mumbai, May, 2000. 64. National Technology Day-Lecture for college students, I.I.H., Mumbai. May, 2000. 65. National update on Haemopoetic Stem Cell – Pune, 10th Dec’ 2000. 66. XVth Annual conf. of Ind. Soc. Organ Transplantation. 30th Sept’ – 2nd Oct’ 2004, Mumbai. 67. National conference on ‘Community Genetics approaches in Prevention of thalassaemia” , Anthropological Survey of India, Calcutta, March, 2008. 68. 1ST Midterm conference of MHG on 29th Sept’07, Mumbai – “Is automation always reliable for haemoglobin analysis ????” 69. One day update on Advanced techniques in Haematological Malignancies on 14th Oct’ 07, Mumbai. 10 List of published abstracts 1. Gorakshakar A.C., Colah Roshan, Mudera V.C. Pawar Aruna, Nadkarni Anita, Desai Sangeeta: Population screening approach for prevention of ß-thalassaemia in India. Abstract 074 - Proc. 7th Congress Asian Pacific Division, Internatl. Soc. Hematol. Hongkong. Nov’, 1991. 2. Desai Sangeeta, Colah Roshan and Gupte Snehalata.: Prevalence of -thalassaemia in Bombay. Abstract 076. 7th Congress Asian Pacific Division , Internatl. Soc. Hematol. Hongkong. Nov’, 1991. 3. Desai S., Gorakshakar A.C., Pawar A., Colah R. and Mohanty D.: A unique case of homozygous HPFH in an Indian. (Abstract) Ind. J. Hum. Genet. 23, 1993. 4. Desai S., Pathare A.V., Pardiwall F., Colah R. and Mohanty D.: Haemoglobin Q disease. Ind. J. Hemat. & Blood Transf.12:34,1994. 5. Desai S., Colah R. and Mohanty D.: Comparison of FPLC with cellulose acetate electrophoresis technique for the diagnosis of -thalassemia trait. Ind. J. Hemat. & Blood Transf. 12:28, 1994. 6. Gorakshakar A.C., Colah R.B., Lulla C.P., Nadkarni A.H., Pawar A.R., Desai S.N. and Mohanty D.: Prenatal Diagnosis of -thalassemia by Denaturing Gradient Gel Electrophoresis - The Indian Experience. Proc. Nat. Update on Thalassemia p-27, 1995. 7. Sukumar S., Mulherjee M.B., Desai S., Kadam M., Tamhankar A., Kedar P., Colah R.B. and Mohanty D.: Screening for the G6PD Mediterrianean Mutation by PCR in Indians - A Preliminary report. Ind. J. Hemat. & Blood Transf. 14:9,1996. 8. Gorakshakar A.C., Lulla C.P., Colah R.B., Nadkarni A.H., Pawar A.R., Desai S.N. and Mohanty D.: Application of DGGE for first trimester prenatal diagnosis of beta-thalassemia among Indians. Abstract317. Internatl. J. Hematol. 64:S 84, 1996. 9. Gorakshakar Ajit, Nadkarni Anita, Phanasgaonkar Supriya, Colah Roshan and Mohanty Dipika.: Identification of a rare thalassemia mutation codon 121 (GT) in a family from Karnataka. Ind. J. Hematol. Blood Transf. 17: Abstract-24,1999. 10. Colah Roshan, Surve Reema, Wadia Mahrukh, Kedar P.S., Phanasgaonkar Supriya, Nadkarni Anita, Gorakshakar A.C. and Mohanty Dipika.: Merits and limitations of automated HPLC for hemoglobinopathies detection. Ind. J. Hematol. Blood Transf. 17: Abstract D-7, 1999. 11. Colah R., Gorakshakar A.C., Pawar A., Phanasgaonkar S., Nadkarni A. and Mohanty D.: Heterogeneity of -thalassemia mutations in different regions in India. Abstract-28. Ind. J. Hum. Genet. 5(Supl) :35, 1999. 12. Wadia Mahrukh, Phanasgaonkar Supriya, Nadkarni Anita, Surve Reema, Colah Roshan and Mohanty Dipika.: Fetal blood analysis by automated chromatography for second trimester prenatal diagnosis of thalassemia. Abstract–93, Ind.J.Hum.Genet.5 (supl):68, 1999. 13. Colah Roshan, Gorakshakar A.C., Phanasgaonkar Supriya, Nadkarni Anita, Surve Reema, Pawar Aruna, Wadia Mahrukh, Mayekar P., Dastur A.E., Lulla C.P., Bhide A., Kothari R., and Mohanty D.: Fetal Diagnosis 11 of Thalassemia Syndromes – 14 years experience of a centre in Western India. Abstract 0008. Proceedings of the 7th Internatl Confr. on Thalassaemia and the Hemoglobinopathies. Bangkok, Thailand p.247,1999. 14. Naik Sangeeta, Colah Roshan and Mohanty Dipika.: Clinical Hematological and Biosynthetic Profile of Indian Hemoglobin H disease. Abstract 0001 Proceedings of the 7th Internatl Confr. Thal. and the Hemoglobinopathies Bangkok, Thailand p.239,1999. 15. Gorakshakar A.C., Nadkarni A., Phanasgaonkar S., Colah R. and Mohanty D.: Identification of a rare thalassemia mutation Codon 121 (GT) in a family from Karnataka. Abstract P-24, Ind. J. Hemat & Blood Transf. 17: 28, 1999. 16. Gorakshakar A., Nadkarni, A., Phanasgaonkar S., Colah, R. and Mohanty D.: A rare -thalassemia mutation (AATAAAAACAAA) seen in 2 Indian families. Abstract P-27, Ind. J. Hematol. & Bl. Transf. 18 :14,2000. 17. Phanasgaonkar S., Sawant P., Wadia M., Surve R., Gorakshakar A., Colah, R. and Mohanty D.: Interaction of an chain variant with thalassaemia. Abstract O-49 Ind. J. Hematol. & Bl. Transf. 19 :14,,2001. 18. Mukherjee M.B., Murhekar K., Gorakshakar A.C., Surve R.R., Wadia M., Phanasgaonkar S.P., Sukumar S., Colah R.B. and Mohanty D.: Haemoglobinopathies, G6PD deficiency and DNA analysis in the Great Andamanese. Abstract P91. Ind. J. Hum. Genet. 7 (supl):69,2001. 19. Colah Roshan, Wadia Mahrukh, Surve Reema, Nadkarni Anita, Phanasgaonkar Supriya, Gorakshakar Ajit, Mohanty Dipika, Prome Danielle and Wajcman Henri: A new hemoglobin variant encountered during prenatal screening. Abstract P92. Ind. J. Hum. Genet. 7 (supl):69,2001. 20. Gorakshakar A.C., Nadkarni A.H., Phanasgaonkar S.P., Colah R.B. and Mohanty D.: Detection of three rare thalassaemia mutations in Indians. Abstract P93. Ind. J. Hum. Genet.7 (supl): 69, 2001. 21. Colah Roshan, Gorakshakar Ajit, Nadkarni Anita, Phanasgaonkar Supriya, Surve Reema and Mohanty D.: Implications of profile of mutations in globin gene for Prenatal Diagnosis of thalassaemia syndromes in India. Intl. J. Hum. Genet. 1 (supl):3,2004. 22. XIVth National CME in Haematology, Bombay hospital, 3 – 5th Jan’08. 23. Phanasgaonkar Supriya, Colah R.B., Gupte S.C., Mohanty D. and Ghosh K.: Is automation always reliable for haemoglobin analysis ???? Bombay Haematology Group, on 29/09/07. 24. Roshan Colah, Ajit Gorakshakar, Anita Nadkarni, Supriya Phanasgaonkar, Reema Surve and Dipika Mohanty Implications of Profile of Mutations in the -Globin Gene forPrenatal Diagnosis of Thalassemia Syndromes in India. Int J Hum Genet., Supplement No. 1: 1-30 ,2004. 24. “Diversity to Discovery” International workshop on Bioinformatics held at Mysore from 15th to 28th Feb’2008. 25. Phanasgaonkar Supriya, Colah R.B., Gupte S.C., Mohanty D. and Ghosh K.: Alpha Haemoglobinopathies in India at the National Conference on “Community Genetics Approaches in Betathalassaemia” 7th –9th March, 2008, in Kolkata. 12 List of Publications 1. Merchant R.H., Abhyankar S.H., Naik S., Gupte S.C., Shah U.C.: Accidental use of blood from a sickle cell trait donor with Plasmodium vivax infection for an exchange transfusion. Ind. J. Haematol. 2:266, 1984. 2. Naik S.R., Gupte S.C., Merchant R.H., Lokeshwar M.R. and Bhatia H.M.: Efficacy of an exchange transfusion. Ind. Pediiatr. 23:501,1986. 3. Pavri Roshan S., Naik Sangeeta R. and Medh Rheem D.: Prenatal diagnosis of hemoglobinopathies. Immunohaematology Bulletin 17: 1,1986. 4. Pavri Roshan S., Naik Sangeeta R., Pawar Aruna .R. and Bhatia H.M.: Globin synthesis in thalassemia syndromes among Indians- A preliminary report. Ind.J.Med.Res. 88:156,1988. 5. Naik Sangeeta R. : Usefulness of globin chain electrophoresis for the detection of thalassemia at birth. M. Sc. Thesis submitted to the University of Bombay, 1988. 6. Rao V.R., Naik Sangeeta R. and Mookherjee Prasun : Series on Bibliographies on human genetics in IndiaHaemoglobinopathies in Indian populations. Ind. Soc. Hum. Genet.1989. 7. Gorakshakar AC, Colah R., Nadkarni A, and Desai S.: Evaluation of the single tube osmotic fragility test in detection of -thalassemia trait. Natl. Med. J. India 3:171,1990. 8. Desai Sangeeta N. and Gupte Snehalata C.: The detection of thalassemia at birth by Hb and globin chain electrophoresis. Ind. J. Hematol. & Bl. Tranf. 10:139, 1992. 9. Desai Sangeeta N.: An evaluation of a new discriminant function for population screening to identify thalassemia trait. Bull. Hum. Genet. 18:18,1993. 10. Gorakshakar A.C., Kurian S., Desai S.N. and Colah R.B.: Hematological and clinical profile in beta thalassemia in Davangere, Karnataka. Pediatric Clinics of India. 28:38, 1993. 11. Collaborative study on Thalassemia. Eds. Sood S.K., Madan N, Colah R., Sharma S., Apte S.V.: Report of ICMR Task Force Study. Indian Council of Medical Research ,1993. 12. Colah Roshan B., Gorakshakar A.C., Lu C.Y., Nadkarni Anita H., Desai Sangeeta N., Pawar Aruna R., Lulla C.P., Krishnamoorty R. and Mohanty Dipika: Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of the common Indian thalassemia syndromes. Ind. J. Hematol. Blood Transf. 15:10, 1997. 13. Desai Sangeeta, Colah Roshan, Gupte Snehalata and Mohanty Dipika.: Is Cellulose Acetate Electrophoresis a suitable technique for detection of Hb Bart's at Birth? Human Heredity 47: 181,1997. 14. Gorakshakar A.C., Lulla C.P., Nadkarni A.H., Pawar A.R., Desai S.N., Colah R.B. and Mohanty D.: Prenatal diagnosis of beta thalassemia using denaturing gradient gel electrophoresis among Indians. Hemoglobin 21: 421,1997. 15. Desai Sangeeta N. and Colah Roshan B.: Alpha thalassemia syndromes in India. Ind. J. Hum. Genet. 3:1,1997. 16. Desai S.N., Colah R.B. and Mohanty D.: Comparison of FPLC with cellulose acetate electrophoresis for the diagnosis of thalassemia trait. Ind. J. Med. Res.108:145,1998. 17. Colah R, Gorakshakar A.C., Nadkarni A,. Phanasgaonkar S.: Molecular diagnosis of hemoglobinopathies. Workshop manual of Indo-European symposium and workshop on "Cytogenetics and Molecular 13 Genetics” Held in Mumbai on 3rd and 4th Dec., p42,1999. 18. Colah R., Gorakshakar A.C., Nadkarni A., Phanasgaonkar S.: Application of PCR in Hemoglobinopathies. Workshop manual of " Indo-European symposium and workshop on cytogenetics and molecular genetics." held in Mumbai on 3rd and 4th Dec., p25, 1999. 19. Supriya, P., Pathare, A., Mehta, H. and Colah R.: Hemoglobin Q Disease. Ind.J.Hemat. & Blood Transf. 18:57,2000. 20. Colah Roshan, Wadia Maharukh, Surve Reema, Nadkarni Anita, Phanasgaonkar Supriya, Gorakshakar Ajit, Mohanty Dipika, Prome Danielle and Wajcman Henry: Hb D-Agri [9 (A6)Ser Tyr, 121(GH-4) GluGln]: A new Indian Hemoglobin Variant with two Amino Acid Substitutions in the same beta chain. Hemoglobin 25:317, 2001. 21. Murhekar, K.M., Murhekar, M.V., Mukherjee, M.B., Gorakshakar, A.C., Surve , R., Wadia M., Phanasgaonkar S., Sridevi,S., Colah, R.B., Mohanty,D.:Red cell genetic abnormalities, globin gene haplotypes and Apo B polymorphism in the Great Andamanese-A primitive negrito tribe of Andaman and Nicobar Islands, India. Hum. Biol. 73: 739,2001. 22. Wadia Maharukh R., Phanasgaonkar Supriya P., Nadkarni Anita H., Surve Reema R., Gorakshakar Ajit C., Colah Roshan B., and Mohanty Dipika: Usefulness of automated chromatography for rapid fetal blood analysis for second trimester prenatal diagnosis of -thalassemia. Prenat. Diag. 22:153,2002. 23. Mohanty D., Colah R.B., Gorakshakar A.C., Nadkarni A.H., Phanasgaonkar S.P., Shetty S., Ghosh K. and Mukherjee M.B.: Genetic disorders in haematological practice in India. Community Genet. 5:197,2002. 24. Nadkarni Anita, Sakaguchi Takehisa, Takaku Hiroshi, Gorakshakar Ajit, Phanasgaonkar Supriya, Colah Roshan B., Mohanty Dipika and Kiyama Ryoiti.: A Novel 0-Thalassemia mutation at codon 55 (-A) and a rare 17bp deletion at codons 126-131 in the Indian Population. Hemoglobin 26:41, 2002. 25. Phanasgaonkar Supriya P. Haematological, biosynthetic and molecular studies on alpha thalassaemia syndromes in India. Ph.D. thesis submitted to the University of Mumbai, 2002. 26. Colah Roshan B., Nadkarni Anita, Pawar Aruna., Gorakshakar Ajit, Phanasgaonkar Supriya. and Mohanty Dipika: Co-existence of the codon 16 (-C) (beta(0)) and codon 10 (CA) (beta) mutations on the same beta globin gene. Hemoglobin 27:133, 2003. 27. Gorakshakar Ajit C., Phanasgaonkar Supriya P., Nadkarni Anita H., Colah Roshan B. and Mohanty Dipika: Detection of rare beta - thalassemia mutations by denaturing gradient gel electrophoresis amongst Indians. Hemoglobin 28:15, 2004. 28. Colah R.B., Nadkarni A.H., Gorakshakar A.C., Phanasgaonkar S. P.. Surve R., Subramaniam P.G., Bondge N., Pujari K., Ghosh K. and Mohanty D.: Impact of beta globin gene mutations on the clinical phenotype of beta - thalassemia in India. Blood Cells Mol. Dis. 33:153, 2004. 29. Nadkarni A., Sakaguchi T., Gorakshakar A., Phanasgaonkar S., Kiyama R., Colah R. and Mohanty D.: An interplay of alleviating mutations in the clinical phenotype of thalassemia intermedia. Clin. Lab. Haematol. 26:419, 2004. 14 30. Colah Roshan B., Shetty Shrimati D., Surve Reema R., Phanasgaonkar Supriya P., Nadkarni Anita H., Gorakshakar Ajit C., Ghosh Kanjaksha, Parekh Sunil J. and Mohanty Dipika: Prenatal diagnosis in a family at risk for thalassemia and Hemophilia A: An uncommon association. Hemoglobin 28:343,2004. 31. Kedar P.S., Nadkarni A., Phanasgaonkar S., Madkaikar M., Ghosh K., Gorakshakar A.C., Colah R. and Mohanty D.: Congenital methemoglobinemia caused by Hb M Ratnagiri (63 CATTAT, His Tyr) in an Indian family. Am. J. Hematol. 79:1,2005. 32. Colah R., Surve R., Nadkarni A., Gorakshakar A., Phanasgaonkar Supriya P., Satoskar P. and Mohanty D.: Prenatal diagnosis of sickle syndromes in India: dilemmas in counseling. Prenat. Diag. 25: 345,2005. 33. Nadkarni A., Sakaguchi T., Gorakshakar A., Phanasgaonkar S., Colah R. and Mohanty, D.: Three Novel Polymorphisms in the beta Globin Gene. Am. J. Hemat 80 : 161, 2005. 34. Gorakshakar A., Nadkarni A., Phanasgaonkar S., Colah R. and Mohanty D.: Detection of two rare thalassaemia mutations [ -90 (C T) and CD 26 (C T) among Indians. Original communication. Ind. J. Hum. Genet. 11:76,2005. 35. Nadkarni A., Sakaguchi T., Gorakshakar A., Phanasgaonkar S., Colah R., Mohanty D. and Kiyama R.: Three novel polymorphisms in the globin gene. Am. J. Hematol.80 :161,2005. 36. Gorakshakar A., Phanasgaonkar S., Colah R. and Mohanty D.: Detection of two rare β -thalassemia mutations [-90 (C T) and CD 26 (C T)] among Indians. Ind.J.Hum.Genet. 11: 76-79, 2005. 37. Phanasgaonkar Supriya, Colah Roshan, Ghosh K., Mohanty D. and Gupte Snehalata.: Hb Q and its interaction with thalassaemia: A study of 64 cases from India. Br.J.Biomed.Sci. 64:160, 2007. 38. Colah R.B., Surve R., Sawant P., D’Souza E., Italia K., Phanasgaonkar S., Nadkarni A.H., Gorakshakar A.C.: HPLC studies in hemoglobinopathies. Symposium: Newer diagnostic tests 74: 657, 2007. 39. Ajit C. Gorakshakar, Manoj K. Das, Supriya P. Phanasgaokar, Anita H. Nadkarni, Roshan B. Colah, Dipika Mohanty : Origin of the codon 47 (+A) β-thalassaemia mutation among the Nicobarese of the Andaman and Nicobar islands in India. Br. J. Haemat. 139 , 345, 2007. 40. Colah R.B., Surve R., Sawant P., D’Souza E., Italia K., Phanasgaonkar S., Nadkarni A.H., Gorakshakar A.C.: HPLC studies in hemoglobinopathies. Ind. J Pediatr. 74 :657, 2007. 41. Colah R., Nadkarni A., Gorakshakar A., Phanasgaokar S., Sawant P., Surve R., Mohanty D. and Ghosh K.: Hb Showa Yakushiji [beta 110 (G12) Leu-->Pro] in 3 families from Western India: first report on homozygous Hb Showa Yakushiji. Blood Cells Mol Dis. 41:166,2008. 42. Nadkarni A., Phanasgaokar S., Colah R., Mohanty D. and Ghosh K.: Prevalence and molecular characterization of alpha-thalassemia syndromes among Indians. Genet Test. 12:177, 2008. 15 43. Nadkarni A, Gorakshakar A, Surve R, Sawant P, Phanasgaonkar S, Nair S, Ghosh K, Colah RB.; Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population. Hemoglobin. 33:59, 2009. 44. Colah R, Gorakshakar A, Nadkarni A, Phanasgaonkar S, Surve R, Sawant P, Mohanty D, Ghosh K.; Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. Blood Cells Mol Dis. 42:241,2009. 45. Phanasgaonkar Supriya P., Colah Roshan B., Gupte Snehalata C., Ghosh K. and Mohanty Dipika.: Phenotypic diversity and globin chain biosynthesis in four families with Haemoglobin H disease. (In press). 46. Phanasgaonkar Supriya, Colah Roshan, Gupte Snehalata, Ghosh K and Mohanty Dipika : Hb H disease in Indians – Diverse Clinical and haematological features (In Press). 47. Phanasgaonkar Supriya, Colah Roshan, Gupte Snehalata and Ghosh K.: Clinical, haematological and molecular studies in a family with Haemoglobin Q disease in an Indian. (In Press). 16