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The Exciting World of Genetics in India - From Clinical to Chromosomes, and Metabolic to Molecular - Ishwar C. Verma FAAP, FAMS, FRCP
The Exciting World of Genetics in India - From Clinical to Chromosomes, and Metabolic to Molecular  
SERC Lunch and Learn #5
Emory Healthcare
Adult Cystic Fibrosis Center
Atlanta, GA  
May 23rd, 2012

About the Presentation
Dr. Verma presents on genetics in India.

Presenter Biography
Ishwar C. Verma, FRCP, FAMS, FAAP, is Professor of Pediatrics at All India Institute of Medical Sciences and the Director of the Center of Genetic Medicine at Sir Ganga Ram Hospital in New Delhi, India. Dr. Verma has made enormous contributions in the field of medical genetics and community health in India. His studies have included epidemiological studies on Down syndrome and congenital malformations especially in neural tube defects (NTD). He is now engaged in a project to fortify foods with folic acid to reduce the unnecessary burden of babies with NTDs. He successfully demonstrated that genetic services, such as screening for beta thalassemia, could be introduced in a district hospital. He has been a pioneer for the mutational studies in Duchenne muscular dystrophy (DMD) and was the first to establish the DNA technology for prenatal diagnosis of DMD in order to prevent its sever burden in the community. He reported on the frequency and clinical profile of sickle cell disease in Indian tribes and successfully carried out a program for the community prevention of sickle cell disease in Kerala using a strategy that can be applied in other parts of India. Dr. Verma is President of the Indian Society of Inborn Errors of Metabolism and Society of Fetal Medicine and is the recipient of the Ranbaxy Science Award, the Indian Council of Medical Research Award, the National Academy of Medical Sciences Award and the BC Roy Medical Council of India Award.

Selected Publications by the Presenter
  1. Thakur S, Puri RD, Kohli S, Saxena R, Verma IC. Utility of molecular studies in incontinentia pigmenti patients. Indian J Med Res. 2011 Apr;133(4):442-5.
  2. Sachdeva K, Saxena R, Majumdar A, Chadha S, Verma IC. Mutation Studies in the CFTR Gene in Asian Indian Subjects with Congenital Bilateral Absence of Vas Deferens: Report of Two Novel Mutations and Four Novel Variants. Genet Test Mol Biomarkers. 2011 May;15(5):307-12.

3.   Sachdeva K, Saxena R, Majumdar A, Chadda S, Verma IC. Use of Ethnicity-Specific Sequence Tag Site Markers for Y Chromosome Microdeletion Studies. Genet Test Mol Biomarkers. 2011 Mar 4. [Epub ahead of print] 4.      Bijarnia S, Puri RD, Jain M, Kler N, Roy S, Urtizberea JA, Biancalana V, Verma IC.         Mutation studies in X-linked myotubular myopathy in three Indian families. Indian J Pediatr. 2010 Apr;77(4):431-3. Epub 2010 Mar 31.

  1. Kohli S, Saxena R, Thomas E, Singh J, Verma IC. Gene changes in Duchenne muscular dystrophy: comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques. Neurol India. 2010 Nov-Dec;58(6):852-6.

6.      Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri RD, Verma IC, Braverman N. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. J Appl Genet. 2010;51(1):107-10 7.     Bashyam MD, Chaudhary AK, Reddy EC, Devi AR, Savithri GR, Ratheesh R, Bashyam L, Mahesh E, Sen D, Puri R, Verma IC, Nampoothiri S, Vaidyanathan S, Chandrashekar MD, Kantheti P. Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India – identification of novel mutations that affect PAH RNA. Mol Genet Metab. 2010 May;100(1):96-9. Epub 2010 Feb 2. Erratum in: Mol Genet Metab. 2010 Aug;100(4):390. Verma, Inder C [corrected to Verma, Ishwar C]. 8.      Bijarnia S, Puri RD, Jain M, Kler N, Roy S, Urtizberea JA, Biancalana V, Verma IC.       Mutation studies in X-linked myotubular myopathy in three Indian families. Indian J        Pediatr. 2010 Apr; 77(4):431-3. Epub 2010 Mar 31 9.     Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group (I.C. Verma),  AT, Ellard S. Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.  J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. Epub 2009 Oct 16. Erratum in: J Clin Endocrinol Metab. 2010 Mar;95(3):1480. 10. Indian Council of Medical Research (ICMR) Collaborating Centers & Central Technical Coordinating Unit, ICMR, New Delhi, India, Rasaily R, Verma IC, et al. Feasibility of introducing genetic services in the National Family Welfare Programme in India. Indian J Med Res. 2009 Oct;130(4):404-12. 11. Nahar R, Saxena R, Kohli S, Puri R, Verma IC. Molecular studies of achondroplasia. Indian J Orthopedics 2009; 43:194-196.  12. Rangan A, Handoo A, Sinha S, Saxena R, Verma IC, Kumar S, Sood SK, Bhargava M. Utility of family studies in diagnosing abnormal hemoglobin / thalassemic states. Indian J Pediatr. 2009 Apr 23. [Epub ahead of print] 13. Feddersen B, DE LA Fontaine L, Sass JO, Lutz J, Abicht A, Klopstock T, Verma IC, Meisenzahl E, Pogarell O.   Mitochondrial neuro-gastrointestinal encephalomyopathy mimicking anorexia nervosa. Am J Psychiatry. 2009 Apr;166(4):494-5. 14. Maruo Y, Verma IC, Matsui K, Takahashi H, Mimura Y, Ota Y, Mori A, Saxena R, Sato H, Takeuchi Y. Conformational change of UGT1A1 by a novel missense mutation (pL131P) causing Crigler Najjar syndrome type 1. J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):308-11. 15. Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. Recommednations for locus specific databases and their curation. Hum Mutat 2008; 29: 2-5. 16. Flaschsova E, Verma IC, Ulbrichova D, Saxena R, Zeman J, Saudek V, Raman CS, Martasek P.  A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of  acute intermittent porphyria in an extended Indian family.  Folia Biol (Praha). 2007;53(6):194-201. 17. Puri RD, Thakur S, Verma IC. Spectrum of severe skeletal dysplasias in North India.       Indian J Pediatr. 2007 Nov;74(11):995-1002. 18. Verma IC, Kleanthous M, Saxena R, Fucharoen S, Winichagoon P, Raizuddin S, Khan SN, Akbari MT, Izadyar M, Kotea N, Old JM, Ioannou PA, Khan B. Multi-center study of the molecular basis of thalassemia intermedia in different ethnic populations. Hemoglobin. 2007;31(4):439-52. 19. Narayan SK, Kumar S, Prabhakar P, Elangovan S, Bauman N, Verma IC. Mutiple sclerosis in Keralite siblings after migration to the Middle east: a report of familial multiple scelerosis from India. J Neurol Sci 2007; 260:244-8. 20. Kumar S, Rana M, Handoo A, Saxena R, Verma IC, Bhargava M, Sood SK. Case report of Hb C/beta(0) thalassemia from India.  Int J Lab Hematol. 2007 Oct;29(5):381-5. 21. Bijarnia S, Puri RD, Ruel J, Gray GF, Jenkinson L, Verma IC. Tyrosinemia type 1 – diagnostic issues and prenatal diagnosis. Indian J Pediatr 2006; 73:163-5.

  1. Hori D, Hasegawa, Kimura M, Verma IC, Yamaguchi S. Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. Brain Dev. 2005 Jan;27(1):39-45.
  2. Miyamura Y, Verma IC, Saxena R, Murase A, Kono M, Suzuki T, Yasue S, Shibata S, Sakakibara A, Tomita Y. Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.
    J Dermatol Sci. 2005 May 7; eprint

24. Miyamura Y, Verma IC, Saxena R, Hoshi M, Murase A, Nakamura E, Kono M, Suzuki T, Yasue S,  Shibata S, Sakakibara A, Tomita Y.  Five novel mutations in tyrosinase gene of Japanese and Indian Patients with oculo-cutaneous albinism type ! (OCA1). J Invest Dermatol. 2005 Aug;125(2):397-8. 25. Verma IC, Bijarnia S, Saxena R, Kohli S, Puri RD, Thomas E, Chowdhary D, Jha SN, Grover AK. Leber’s hereditary optic atrophy with molecular characterization in two Indian families. Indian J Opthalmol 2005. 53:167-71. 26.  Kohli S, Saxena R, Thomas E, Rao P, Verma IC. Prenatal diagnosis of phenylketonuria. Indian J Med Res 2005; 122:400-3.

  1. Verma IC, Kumar D. Epidemiology of genetic diseases. In,  Kumar D (Editor) “Genetic disorders of the Indian subcontinent. Kluwer Academic Publishers, Dordrecht. 2004. pp 81-88.
  2. Verma IC. Genetic disorders and medical genetics in India. In,  Kumar D (Editor) “Genetic disorders of the Indian subcontinent.” Kluwer Academic Publishers, Dordrecht. 2004. pp 501-518.
  3. Premawardhena A, Fisher CA, Liu YT, Verma IC, de Silva S, Arambepola M, Clegg JB, Weatherall DJ. The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. Blood Cells Mol Dis. 2003 Jul-Aug;31(1):98-101.
  4. Verma IC. Implication of human genome project for pediatric practice. Indian Pediatr. 2003 Jul;40(7):607-11
  5. Saleem Q, Roy S, Murgood U, Saxena R, Verma IC, Anand A, Muthane U, Jain S, Brahmachari SK. Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population. Acta Neurol Scand. 2003;  108 (4): 281-286.
  6. Verma IC, Bijarnia S, Saxena R, Lall M, Sharma R. Genetic counseling and prenatal diagnosis in India. Indian Journal of Pediatrics. February 2003;70: 293-297.
  7. Verma IC, Bajarnia S. Burden of genetic disorders in India and a framework for their control. Community Genetics 2002; 5:192-196.
  8. Kukreti R, Rao C, Das SK, De M, Talukder G, Vaz F, Verma IC, Brahmachari SK. Study of the single nucleotide polymorphism (SNP) at the palindromic sequence of hypersensitive site (HS)4 of the human beta globin locus control region (LCR) in Indian population. Am J Hematol. 2002 Jan; 69(1): 77-79.
  9. Saleem Q, Muthane U, Verma IC, Brahmachari SK, Jain S. Expanding colonies and expanding repeats. Lancet. 2002 Mar 9; 359(9309): 895-6.
  10. Pingault V, Girard M, Verma IC, Goosens M et al. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physio-pathological mechanism. uman Genetics. 2002 Aug;111(2):198-206.
  11. Mathur R, Menon PSN, Kabra M, Verma IC. Molecular characterization of mutations in steroid 21-hydroxylase gene leading to congenital adrenal hyperplasia. J Pediatr Endocrinol Metab. 2001 Jan;14(1):27-35.
  12. Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Raizzudin S, Saxena R, Winichagoon P, Kyriacou K, et al. A multi-centric study in order to further define the molecular basis of beta thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system – polymerase chain reaction. Hemoglobin 2001; 25:397-2001.

39. Fujigasaki H, Verma IC, Durr A et al. SCA 12 is rare locus for autosomal dominant cerebellar ataxia – a study of an Indian family. Ann Neurol. 2001 Jan;49(1):117-21.

  1. Indian  Council of Medical Research Collaborating Centers & Central Technical Co-ordinating Unit. Multi-centric study of efficacy of peri-conceptional folic acid containing vitamin supplementation in prevention of open neural tube defects in India. Indian J Med Res  2000; 112:206-211.

41. Verma IC. Burden of genetic disorders in India. Indian J Pediatr. 2000 Dec;67(12):893-8. 42. Saxena R, Moi L, Demurtas M, Rosatelli MC, Cao A, Verma IC. A beta thalassemia allele with 3 base substitution in codons 4/5 and 6 (ACT CCT GAG -> ACA TCT TAG) detected by denaturing gradient gel electrophoresis and sequencing. Indian J Med Res 2000 ; 111 (1) : 24 -27. 43. Roy Chowdhury M, Herrmann FH, Schroder W, Lambert CT, Lalloz MRA, Layton M, Kumbnanaui HK, Menon PSN, Verma IC. Factor VIII gene polymorphisms in Asian Indian population. Hemophilia. 2000 Nov;6(6):625-30. 44. Kabra M, Kabra S, Ghosh M, Khanna A, Arora S, Menon PS, Verma IC, Wallace A. Is the spectrum of mutations in Indian patients with cystic fibrosis different? Am J Med Genet 2000; 17: 93(2): 161-163.

  1. Chopra G, Verma IC, Seetharaman P. Development and assessment of a screening test for detecting childhood disabilities. Indian J Pediatr. 1999 May-Jun;66(3):331-5.
  2. Verma IC, Sharma V, Kabra M, Arya LS, Sarkar TS, Manjunath NA. Genetics Studies of Retinoblastoma in India. In : Ustunomiya J, Mulvihill JJ, Weber W (eds). Familial Cancer and Prevention. Wiley Liss. New York. 1999.pp 485-491.
  3. Saxena R, Jain PK, Thomas E, Verma IC.  Prenatal diagnosis of beta-thalassaemia: experience in a developing country. Prenatal Diagnosis. 1998 Jan;18 (1):1-7.
  4. Jain U, Verma IC, Kapoor AK. Prevalence of fragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India. Indian J Med Res. 1998 Jul;108:12-6.
  5. Jain PK, Lalwani AK, Li XC, Singleton TL, Chen A, Deshmukh D, Verma IC, Smith RJ, Wilcox ER. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics. 1998 Jun 1;50 (2):290-2.
  6. Saxena R, Thomas E, Verma IC . Detection of beta-thalassaemia mutation insertion ATCT at codon 47/48 by ARMS technique for screening & prenatal diagnosis. Indian J Med Res. 1997 Jun;105:275-7.
  7. Kaur M, Dass GP, Verma IC. Sickle cell trait & disease among tribal communities in Orissa, Madhya Pradesh & Kerala. Indian J Med Res. 1997 Mar;105:111-6. 
  8.  Banerjee M, Verma IC. Are there ethnic differences in deletions in the dystrophin gene? Am J Med Genet. 1997 Jan 20;68(2):152-7.
  9. Verma IC, Jain PK,  Renu Saxena, Thomas E . Regional distribution of beta-thalassemia mutations in India. Hum Genet. 1997 Jul;100(1):109-13.

54. Jain PK, Fukushima K, Deshmukh D, Verma IC, et al. A human recessive neurosensory non- syndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Human Molecular Genetics. 1995; 4: 2391-2394. 55. Verma IC.  Disorders with Complex Inheritance in India: Frequency and Genetic         / Environmental Intractions.  In : Genetic Approaches to Noncommunicable        Diseases.  Edited by K. Berg,  V. Blulyjenkov, Y. Christen.  Springer-verlag  Berling       Heidelberg 1996. pp 139-152.

  1. Verma IC, Puri M, Bansal K. Rehabilitation of children with mental handicap in slum areas. In: Fukuyama Y, Kamoshita S, Ohtsuka C, Suzuki Y (eds) Modern Perspectives in Child Neurology. The Japanese Socity of Child Neurology. 1991. pp 323-328.
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