Publications by Centre's Scientists (April 2015- March 2016)

1. Ragunatha S, Ramesh M, Anupama P, Kapoor M, Bhat M. Papillon-Lefvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis. Pediatr Dermatol. 2015. 32(2):292-4.
2. Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Novel and recurrent mutations in WISP3 and an atypical phenotype. Am J Med Genet A. 2015. 167A(10):2481-4
3. Meenakshi Bhat. Perspectives: Social and cultural issues in genetic counselling, Journal of Biosciences. 2015. 40(2): 217-220
4. Dwarakanathan A, Bhat M, GN Sanjeeva, Shetty S. Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. Clinical Dysmorphology. 2015. 24(4):159-62
5. Juby Mathew, Sujatha M Jagadeesh, Meenakshi Bhat, Udhaya Kumar, Sarvanamuthu Thiyagarajan and Sudha Srinivasan. Mutations in ARSB in MPSVI patients in India. Mol Genet Metab Rep. 2015. 17;4:53-61
6. Aswini S, Ambika S, Pooja KS, Anuradha D, Kadandale JS, Chandra R. Samuel. Split hand/foot malformation associated with 7q21.3 microdeletion - A case report. Mol Syndromol. 2015. 6:287-296
7. Mitesh Shetty, Ambika Srikanth, Jayarama Kadandale and Sridevi Hegde. Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum, Mol Syndromol. 2015. 6(4): 187-192
8. Shetty M, Kadandale J and Hegde S. Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia, Mol Syndromol. 2015. 6:248-253
9. Sanyal Debarshi and Kadandale Jayarama S. Clinical and haematological evidence of a rare case of polycythemiavera by conventional cytogenetics. Journal of Rare Disorders. 2015. 3 (2): 38-41
10. Pandey N, Dennis J, Chatterjee A, Mani RS, Tharakan A, Rajashekhar B, Anand A. Functional analysis of a novel Connexin30 mutation in a large family with sensorineural hearing loss, pes planus, ichthyosis, cutaneous nodules and keratoderma. Annals of Human Genetics. 2016. 80:11-9
11. Vidyanand Nanjundiah. Cellular slime mold development as a Paradigm for the transition from unicellular to multicellular life. Book chapter in Multicellularity: Origins and Evolution. 2016: 105-128.
12. David Vogel, Stamatios C. Nicolis, Alfonso Perez-Escudero, Vidyanand Nanjundiah, David J. T. Sumpter and Audrey Dussutour. Phenotypic variability in unicellular organisms: from calcium signalling to social behaviour. Proceedings of the Royal Society. 2015
13. Vidyanand Nanjundiah. Introduction to Obaid Siddiqi Memoirs. Indian National Science Academy, New Delhi. 2016
14. Vidyanand Nanjundiah. Foreword to 'Biochemical Evolution: The pursuit of Perfection' by A. Cornish Bowden. 2nd Edition, Garland Science 2016.
15. Veena Rao and Vidyanand Nanjundiah. Ernst Mayr's interaction with J.B.S. Haldane. History and Philosophy of Life Sciences. In press
16. Pandey N, Sharma M, Rashid T, Jalvi R, Andrabi R, Rangasayee R, Anand A. Mutations in OTOF, CLDN14 and SLC26A4 are a major cause of hearing impairment in Dhadkai village, Jammu and Kashmir, India. Indian Journal of Medical Research. In press
17. Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad C K, Babu A S, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, H SV, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A. Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II. Clin Genet. In Press
18. R Lakshmi PS, Anupama D, Bhat M, Jayarama SK, Harshal KL. Goldenhar syndrome. Int J Anat Res. In Press
19. Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Am J Med Genet A. In Press
20. Kantheti P, Kubba A, Prabhu A, Batrani M and Hiramagalore R. Two novel mutations in KIND1 in Indian pateints with Kindler syndrome. Clin. Exp. Dermatol. In Press

Poster Presentation:

1. Prajakta Deshpande, Sreeja V. Nair, Sujatha M. Jagadeesh and Sudha Srinivasan. Identification of 6 novel mutations and p.C79R in GALNS as a common mutation in MPS IVA patients in India. Presented at the 41st annual meeting of the Indian Society of Human Genetics, Chennai, March 3-5, 2016.
2. Carmen Coelho. Variation in Drosophila wing imaginal disc growth curves. Presented at the CDB symposium at Riken CDB, Japan on Size in Development: Growth, Shape and Allometry. March 28-30, 2016.

Seminars and invited lectures organized at the Centre:

1.March 23, 2016 - "Identifying genetic variants associated with rare genetic diseases" by Prof. Byrappa Venkatesh, Research Director, Comparative and Medical Genomics Lab, Institute of Molecular and Cell Biology, A*STAR, Singapore
2.March 18, 2016 - "Polygyny, Sexual selection and Terrorism" by Prof K N Ganeshaiah, Professor, University of Agricultural Sciences, Bangalore
3.March 10, 2016 - "Immortality Ideologies and Reductionism in Molecular Biology" by Dr. Esha Shah
4.February 19, 2016 - "Perspectives on GM crops" by Dr. Imran Siddiqi, Centre for Cellular and Molecular Biology (CCMB), Hyderabad.
5.February 5, 2016 - "Tissue Engineering - What, Why and How" by Dr. Pallavi Deshpande, Sri Research for Tissue Engineering, Bangalore
6.January 22, 2016: "Development of muscle tendons in the fruit fly and how this can be useful in the study of human diseases" by Prabhat Tiwari, NCBS, Bangalore
7.January 8, 2016 - "Is nucleocytoplasmic glycosylation essential for patterning the Drosophila embryo?" by Dr. Daniel Mariyappa, O-GlcNAc lab, MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK
8.November 27, 2015 - "The process of chromosome segregation in two pathogenic budding yeasts - Candida albicans and Cryptococcus neoformans" Prof Kaustuv Sanyal, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore
9.October 30, 2015 - "A Computational Model for Chromosome Positioning" by Dr. Gautam I. Menon, The Institute of Mathematical Sciences, Chennai
10.October 28, 2015: "Surgeon working with Medicins Sans Frontieres in zones of conflict" by Chandrika Rao
11.October 21, 2015: "Tissue microenvironments" by Ramray Bhat, IISc, Bangalore
12.October 16, 2015 - "Autophagy modulating small molecules to the rescue in Neurodegenerative disorders" by Dr. Ravi Manjithaya, Molecular Biology & Genetics Unit, Jawaharlal Nehru Center for Advanced Scientific Research, Bangalore
13.September 30, 2015: "Contemporary art scene in India" by Giridhar Khasnis
14.September 16, 2015: "Using 3-D cell culture techniques in modelling cancer" by Anuradha Arya, Kiran Mazumdar-Shaw Cancer Centre, Bangalore
15.April 20, 2015 - "Optineurin- A mediator of vesicular trafficking and NF-kB signalling: A role in glaucoma and ALS?" by Dr. A. Nagabhushana, The Centre of Excellence in Epigenetics (CoE)- IISER, Pune, and CCMB, Hyderabad

Talks given by CHG Scientists at other Institutions:

Dr. Meenakshi Bhat:

1. May 8, 2015: Clinical management in phenylketonuria, talk given in meeting on Inborn metabolic disorders requiring therapeutic dietary products: local initiatives, CHG
2. August 2, 2015: Common dysmorphic syndromes a Paediatrician should know, talk given at meeting on Clinical Genetics and Prenatal Diagnosis for the practicing paediatrician, IGICH.
3. September 20, 2015: Introduction to Clinical Genetics & Skeletal dysplasia in prenatal practice. Fetal ultrasound program, BFMC. These talks are a part of the online teaching course for fetal medicine trainees conducted by BFMC.
4. September 25, 2015: Genetic counselling, talk given at Pre-conference workshop on Genetics and Fetal Medicine, 17th KCACON, Tumkur
5. September 2015: Molecular diagnosis in lysosomal storage disorders in India, National meeting on rare disorders, Delhi
6. 28-29th November 2015: A clinical approach to acute Inborn Metabolic Disorders in the neonate and management strategies, International meeting of Bangladesh Neonatal Forum Dhaka, Bangladesh
7. 10-13th December 2015: Faces in Congenital heart disease, 2nd Annual Conference of Indian Academy of Medical Genetics, IAMGCON 2015, AIIMS Jodhpur
8. 21st November 2015: Special diets in Inborn Metabolic Disorders (IMDs): Indian initiatives, invited talk at 48th Annual National Conference of Indian Dietetic Association, Ashoka Hotel, Bangalore
9. 10th January 2016: Consanguinity and its impact on genetic disorders & Genetic testing: what, when, where? Two talks given at an Update in Clinical Genetics, FUP programme, Chinmaya Mission Hospital, Bangalore
10. 16th January 2016: Opportunities for genetic tests in India - When, Where & How?, talk at CME in Neonatology, St John's Medical College

Dr. Jayarama S Kadandale:

11. March 2016: "Human Chromosomes II" teaching programme for PhD students at JNCASR.
12. 31st March 2016: "Cytogenetic and Molecular cytogenetic investigations in patients with genetic disorders" Dept. of Biotechnology, Kuvempu University, DBT sponsored National symposium on "Current Trends in Biotechnology Research".
13. February 2016: "Human Chromosomes I" teaching programme for PhD students at JNCASR.
14. December 2015: "Human chromosomes, chromosomal disorders, prenatal diagnosis, cancer genetics and Fluorescence in situ hybridization based genetic diagnosis. Four hours teaching for M.Sc students doing their Embryology course at Gunasheela Surgical and Maternity Hospital, Basavanagudi, Bangalore
15. 26th November, 2015: "Molecular cytogenetic investigations in patients with genetic disorders" Sir Gangaram Hospital. Invited lecture for MD's doing their DM.
16. 25-26th September 2015 "Clinical applications of cytogenetics and molecular cytogenetics" at the 17th KCA Conference, Sri Siddhartha Medical College, Tumkur
17. 22nd June 2015: "Clinical Applications of Fluorescence in situ hybridization (FISH) in diagnosing genetic diseases" at the National FISH workshop conducted at TATA Medical Center, Kolkata.

Dr. Swathi Shetty:

18. 25-26th September 2015: "Genetic Basis of Human Diseases" at the 17th KCA Conference, Sri Siddhartha Medical College, Tumkur

Other Academic Activities by Centre's Scientists/Staff:

Dr. Swathi Shetty and Dr. Jayarama S Kadandale:

(a) Established the Molecular Genetics laboratory and Clinical Cytogenetics laboratory at Gunasheela Genomics in Koramangala in 2015.

Dr. Jayarama S Kadandale:

(b) Member - Bioethics committee of Regional Occupational Health Center (ROHCS) - ICMR Centre, Bangalore
(c) Electronic reporting services: Extended to Sri Siddhartha Medical college, Tumkur, S.S. Institute of Medical Sciences, Davanagere, K. S. Hegde Medical College, Mangalore and DNA Lab, Kaulalampur, Malaysia:
Received a total of 400 karyotypes from peripheral blood and amniotic fluid by E-mail and were checked and E - reported.

Dr. Meenakshi Bhat:

(d) Member, Indian Medical Advisory Board, Sanofi- Genzyme India since 2013
(e) Faculty member: Genetics chapter of Fetal Imaging Academy (FImA). FImA organises a year-long training course in fetal imaging techniques and diagnosis of fetal anomalies conducted by BFMC. This online teaching programme was started with the aim of improving the standard of fetal imaging, early detection of fetal anomalies, their diagnosis and management with accreditation from the Fetal Medicine Foundation, India
(f) Draft Policy Document on Rare Diseases & Orphan Drugs for Karnataka: Member of the committee hosted by KBITS to draft guidelines for a Rare Diseases Policy for Karnataka state.
(g) Member, LOI screening meeting for Human Developmental and Disease Biology (HDDB) Task Force, DBT, Delhi, 3rd Nov 2015
(h) Biosafety Officer, Institutional Biosafety Committee of IBAB


Post-MD Fellowship course in Paediatric genetics: A one year post doctoral certification course in Paediatric genetics was begun in partnership with IGICH, Bangalore under the auspices of the Rajiv Gandhi Health University in July 2013.