43rd Annual Meeting of the Indian Society of Human Genetics

Population and Medical Genomics

CSIR-Centre for Cellular and Molecular Biology, Hyderabad 12 - 14 March 2018

Venue: IICT Auditorium

Programme

Day 1, Monday, 12th March 2018

09.30 - 09.55 h Inauguration Chair / Speaker Session / Title

10.00 - 11.00 h

Chair: Rakesh K Mishra, CSIR-CCMB, Hyderabad I - Population Genomics

K Thangaraj, CSIR-CCMB, Hyderabad Burden of recessive diseases in South Asia: Population and genomic perspectives

Guy Jacobs, NTU, Singapore Marriage patterns and the transmission of language and genes

11.00 - 11.30 h Tea / Coffee

11.30 - 13.00 h

Chair: Dwaipayan Bharadwaj, JNU, New Delhi II - Complex Diseases I

Subhabrata Chakrabarti, LVPEI, Hyderabad Functional genomic interactions in glaucoma pathogenesis

KM Girisha, Manipal University, Manipal Skeletal dypslasia: Patient to exome

Raghunath Chatterjee, ISI, Kolkata Extensive epigenome-wide reprogramming in Psoriasis pathogenesis

*Short talk: Suraj S Nongmaithem, CSIR-CCMB, Hyderabad

Genetics of birth weight and other anthropometric traits and their tracking on future risk of cardio-metabolic traits in Indians

13.00 - 14.30 h Lunch & Poster Presentation

14.30 - 16.00 h

Chair: C Narasimhan, CARE, Hyderabad III – Cardio-metabolic Disorders

P Dhandapany, InStem, Bangalore Functional genomics of cardiomyopathy

Regalla Kumaraswamy, CSIR-CCMB, Hyderabad Non-coding RNAs in patho-physiology of the heart

Anubha Mahajan, University of Oxford, UK Genetics and genomics to biology and translation in type 2 diabetes

*Short talk: Sakthi Sree Maghajothi, IIT, Chennai

Identification, association, & functional characterization of genetic variations in MMP8 with cardiovascular diseases

16.00 - 16.30 h Tea / Coffee

16.30 - 18.00 h

Chair: K Satyamoorthy, Manipal University IV - Model Organisms for Human Diseases

Rakesh K Mishra, CSIR-CCMB, Hyderabad Drosophila as model system for human diseases

Sridhar Sivasubbu, CSIR-IGIB, New Delhi Long non- coding RNA mediated regulation of vascular permeability in zebrafish- implication in human disease

Satish Kumar, CSIR-CCMB, Hyderabad Mouse Wdr13 gene: One mutation, many phenotypes

*Short talk: A Paramasivam, CSIR-CCMB, Hyderabad

Clinical spectrum of mitochondrial disorders: contributions of nuclear genes

18.15 - 19.30 h Cultural Program “Andhra Natyam and Perini” by Kalakrishna & Group

19.30 - 21.30 h Dinner

21.00 - 22.00 h ISHG Executive Committee Meeting (CCMB Committee Room – I)

*Selected from abstracts; 12 min. presentation + 3 min. discussion | Tea/Coffee and Lunch at Exhibition/Poster area | Dinner on CCMB Terrace

43rd Annual Meeting of the Indian Society of Human Genetics

Population and Medical Genomics

*Selected from abstracts; 12 min. presentation + 3 min. discussion | Tea/Coffee and Lunch at Exhibition/Poster area | Dinner on CCMB Terrace

Day 2, Tuesday, 13th March 2018

Chair / Speaker Session / Title

9.30 - 11.10 h

Chair: AJS Bhanwer & GR Chandak, ISHG Young Scientist Award

Aditi Chandra, ISI, Kolkata Epistatic interaction of HLA-Cw6 and LCE3 in Psoriasis pathogenesis

Ambika Sharma, Jaypee University, Solan Association of IRGM gene promoter polymorphisms with HBV infection

Avni Solanki, NIIH, Mumbai Comprehensive study of FANC genes in Indian patients with Fanconi anemia

Heena Singla, Central Univ. Punjab, Bathinda Association of genomic alterations with disease-risk and response to Trastuzumab in HER2 positive breast cancer

Jibin John, University of Delhi (SC), New Delhi Glutamatergic dysfunction in schizophrenia: Strong evidence from rare variant discoveries in family based study

11.10 - 11.40 h Tea / Coffee break

11.40 – 13.00 h

Khushdeep Bandesh, CSIR-IGIB, New Delhi A novel antisense lncRNA, ARBAG, cleaves GABRA6 mRNA harboring a RNA destabilizing GWAS variant

Manu Jamwal, PGIMER, Chandigarh A next generation sequencing based approach to elucidate the clinical and genetic spectrum of rare congenital anemias

Shraddha Chakraborty, CSIR-IGIB, New Delhi

Post-GWAS functional validation of TMEM163 in zinc-regulated insulin storage of mouse insulioma cell line and identification of novel exonic variants in Indian type 2 diabetic patients

V Priyanka Iyer, SRMC & RI, Chennai Genetic and epigenetic analysis of inflammatory markers in chronic periodontitis

13.00 - 14.30 h Lunch & Poster Presentation

14.30 - 16.00 h

Chair: Jayesh Sheth, FRIGE, Ahmedabad V - Technical & Short Talks

Aarti Desai , Illumina, South Asia Advancing genomic research and clinical applications through sequencing technology innovation

Li Xi, PacBio, Asia Pacific PacBio SMRT sequencing Bhupinder Hundle, Oxford Nanopore technologies, UK Oxford Nanopore Technologies

Prathap Naidu, Thermo Fisher, Scientific Ion GeneStudio S5 series of NGS

*Short talk: P Govindaraj, NIMHANS, Bangalore Private mitochondrial DNA variants in idiopathic dilated cardiomyopathy

*Short talk: Sudipta Chakraborty, NIBMG, Kalyani Genome wide association of quantitative traits involved in primary angle closure glaucoma pathogenesis

16.00 - 16.30 h Tea/Coffee

16.30 - 17.15 h Chair: Appa Rao Podile, HCU, Hyderabad Prof IC Verma Oration Award

Giriraj R Chandak, CSIR-CCMB, Hyderabad Discovering myself from bed to bench and back to bed

17.15 - 18.45 h

Chair: Ashwin Dalal, CDFD, Hyderabad VI - Neurological Disorders

Arun Kumar, IISc, Bangalore Insights into the genetics and biology of two brain disorders: Anencephaly & primary microcephaly

Anuranjan Anand, JNCASR, Bangalore Epilepsy genetics: A few research findings and current perspective

Moinak Banerjee, RGCB, Thiruvananthapuram Revisiting epigenetics of schizophrenia using genetic and pharmacoepigenomic approach

18.45 – 19.15 h Tea / Coffee 19.15 - 20.15 h ISHG General Body Meeting (CCMB Lecture Hall)

20.00 – 22.00 h Dinner

43rd Annual Meeting of the Indian Society of Human Genetics

Population and Medical Genomics

Day 3, Wednesday, 14th March 2018

Chair / Speaker Session / Title

09.30 - 11.00 h

Chair: Kunal Ray, Kolkata VII - Complex Diseases II

Anurag Agrawal, CSIR-IGIB, New Delhi Conferring genetic risk of asthma to novel extracellular and nuclear roles: An evolving story of the inositol phosphatase INPP4A

Sathees C Raghavan, IISc, Bangalore

A novel mechanism of generation of chromosomal translocations in leukemia and lymphoma

M Subba Reddy, CDFD, Hyderabad A new connection between tumor suppressor PTEN and cellular glucose uptake

*Short talk: Meraj Ahmad, CSIR-CCMB Functional analysis of novel variants identified by a genome-wide association study of type 2 diabetes in Western Indians

11.00 - 11.30 h Tea / Coffee

11.30 - 13.00 h

Chair: S Shivaji, LVPEI, Hyderabad VIII - Reproductive Disorders

Joris Veltman, Newcastle University, UK De novo mutations in genetic disease

Deepak Modi, NIRRH, Mumbai Gene copy number variation in the AZFc locus of the human Y chromosome and its implications in male fertility

Ken McElreavey, Pasteur Institute, France New genetic factors involved in human sex-determination

*Short talk: Aneek Das Bhowmik, CDFD, Hyderabad

HERC1, ARMC9 and AIMP2: Three novel genes for Intellectual Disability identified by whole exome sequencing

13.00 - 14.00 h Lunch

14.00 - 15.30 h

Chair: A K Meena, NIMS, Hyderabad IX - Neuromuscular Disorders

Robert Pitceathly, UCL, London, UK The hidden genome: identifying the mitochondrial needle in the exome haystack

Jyotsna Dhawan, CSIR-CCMB, Hyderabad Cell biology of neuro-muscular disorders: opportunities for discovery, therapeutic avenues

*Short talk: Souvik Mukherjee, NIBMG, Kalyani The emerging role of human metagenomics in health and disease

*Short talk: Swati Srivastava, Defence Institute of physiology and Allied Sciences, Delhi

Global gene expression profiling in patients of venous thrombosis reveals over-expression of blood coagulatory mechanisms at high altitude condition

15.30 - 16.30 h

Chair: Subeer Majumdar, NIAB, Hyderabad X - Future Perspectives

Tiago Faial, Nature Genetics, USA Publishing in Nature journals TBA Future of genomics research

16.30 - 17.00 h Valedictory function and prize distribution 17.00 h High Tea

*Selected from abstracts; 12 min. presentation + 3 min. discussion | Tea/Coffee and Lunch at Exhibition/Poster area