1. Healthcare

INTERNATIONAL SYMPOSIUM ON “GENOMICS IN HEALTH AND DISEASE”
&
40TH ANNUAL CONFERENCE OF INDIAN SOCIETY OF HUMAN GENETICS,
28TH TO 30TH JANUARY 2015, NEHRU CENTRE, MUMBAI
ORGANIZED BY NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY (ICMR), MUMBAI
Scientific Programme
Day 1: 28th January 2015 (Main Auditorium)
8.00am to 10.00am
Registration
10.00am to 10.10am
Welcome Address: Dr K Ghosh, Chairman, Organizing Committee
10.15am to 11.00am
Chairpersons : Prof Partha Majumder, Dr K Ghosh
Key Note Address : Prof Stylianos E Antonarakis, Switzerland
Transcriptome dysregulation and single cell genomics in Down syndrome
11.00am to 11.30am
Break for Tea/Coffee
11.30am to 12.15pm
Dr L D Sanghvi Oration
12.15pm to 1.00pm
Plenary Session-I
Chairpersons: Dr Dipika Mohanty, Dr S V Chiplunkar
12.15pm to 12.35pm
12.35pm to 12.55pm
Cancer genetics including Circulating Tumor Cells - Dr Purvish Parikh, Mumbai
Genetics of complex diseases : From genome to epi-genome, a new perspective for understanding complex diseases Dr Sanjeev Galande, Pune
1.00pm to 2.00pm
Lunch and viewing the posters
2.00pm to 4.00 pm
Young Scientist Award Presentation (Y1 – Y8), Chairpersons: Dr. K. Thangaraj, Dr. Q. Annie Hasan
4.00pm to 4.30pm
Break for Tea/Coffee and viewing the Posters
4.30pm to 6.30pm
Plenary Session-II
Chairpersons : Prof S. E. Antonarakis, Prof N K Mehra
4.30pm to 4.55pm
Structure and Evolution of Genes of the innate immune system - Prof Partha Majumder, Kolkata
4.55pm to 5.20pm
5.20pm to 5.45pm
Post Genomics era: MHC is where the action is? - Prof N K Mehra, New Delhi
Exome sequencing reveals new genes involved in genitourinary development - Prof Ken McElreavey, France
5.45pm to 6.10pm
6.15pm to 7.00pm
Hereditary Cancers in South Asians: Bench to Bedside - Dr Rajiv Sarin, Mumbai
7.00pm to 8.00pm
Inauguration – Dr Vishwa Mohan Katoch, Secretary DHR & DG, ICMR
8.00pm to 10.00pm
Dinner
Poster Presentation (P1 to P60)
Day 2: 29th January 2015
8.00am to 9.30am
Registration
9.30am to 11.00am
Session 1: Cancer Genetics
( Hall A )
Chairpersons : Dr P S Chauhan, Dr Farah Jijina
9.30am to 9.50am
Is Cytogenetics of hematological malignancies still relevant in the genomic era? - Prof Susan Mathew, USA
9.50am to 10.10am
Clinical Applications of Molecular Genetics in Bone and Soft Tissue Neoplasia - Prof Meera Hameed, USA
10.10am to 10.30am
Translating Cancer Genomics to Medicine - Dr Amit Dutt, Mumbai
10.30am to 10.50am
Cytogenetics and molecular profiling in Multiple Myeloma - Dr Pratibha Amare, Mumbai
11.00am to 11.30am
Break for Tea/Coffee and viewing the Posters
11.30am to 1.00pm
Session III : Inborn Errors of Metabolism
Chairpersons : Prof A Jyothy, Dr Jayesh Sheth
11.30am to 11.50am
Mitochondrial Disease Diagnosis and Management - Dr Virginia Kimonis, USA
11.50am to 12.10pm
Enzyme replacement therapy for lysosomal storage disorders - Dr Mamta Muranjan, Mumbai
12.10pm to 12.30pm
Screening & Diagnosis of IEM by Mass-Spectrometry - 15 Years of MILS Experience - Dr Usha Dave, Mumbai
12.30pm to 12.50pm
Molecular Diagnosis of Genodermatoses in India - Dr Parag Tamhankar, Mumbai
1.00pm to 2.00pm
Lunch and viewing the Posters
2.00pm to 3.30pm
Oral Presentations (O1 - O9)
Chairpersons : Dr Rama Mittal, Dr Annie Hasan
1. Validation of Wilson’s Disease DNA Microarray- Dr Manjula Mathur, Mumbai
Oral Presentations
(10 minutes each)
3.30pm to 4.00pm
2. Antioxidant gene variants and Type-2 Diabetes: A north Indian study - Dr Monisha Banerjee, Lucknow
3. Association study of inflammatory genes with Rheumatic Heart disease in North Indian population: A multi-analytical approachMs Usha Gupta, Lucknow
4. Parental CYP21A2 genotyping plays an important role in reduction of neonatal deaths in CAH familiesDr Eunice Marumudi, New Delhi
5. Association of D18S880 polymorphism of the CNDP1 gene with diabetic nephropathy in South Indian populationDr Bodhini D, Chennai
6. Expression of CD133 and BM11 and its prognostic role in subjects with glioblastoma multiforms from Indian populationDr Chetan GK, Bangalore
7. Insights on the functional impact of microRNA’s in Autism- Associated copy number variants- Dr Varada Rajan Vaishnavi,
Chennai
8. A clustering approach for mapping rare variants based on mutual association- Dr Saurabh Ghosh, Kolkata
9. Genetic markers in PCOS risk and phenotype progression - Dr Srabani Mukherjee, Mumbai
Break for Tea/Coffee and viewing the Posters
4.00pm to 6.00pm
Session V: Clinical Genetics
Chairpersons : Dr Ruchi Nanavati, Dr Aparna Parikh
4.00pm to 4.20pm
Genetic Disorders and Consanguinity: Indian Scenario – Dr Shubha Phadke, Lucknow
4.20pm to 4.40pm
Noninvasive prenatal diagnosis - Dr Nilesh Dharajiya, USA
4.40pm to 5.00pm
Disorders of imprinting - Dr Koumudi Godbole, Pune
Fetal dysmorphology in fetal autopsy - Dr Prakash Gambhir , Pune
5.00pm to 5.20pm
5.20pm to 5.40pm
A global perspective on the functional genomics of congenital glaucoma using next generation sequencing –
Dr Subhabrata Chakrabarti, Hyderabad
5.45pm to 6.30pm
Poster Presentation (P61 to P120)
6.30pm to 7.00pm
General Body Meeting
8.00pm to 10.00pm
Dinner
9.30 am to 11.00am
Session II: Hemoglobinopathies
Day 2: 29th January 2015
( Hall B )
Chairpersons: Dr S L Kate, Dr Roshan Colah
9.30am to 9.50am
Past, Present and future of Hemoglobinopathies in India- Dr Dipika Mohanty, Bhubaneswar
9.50am to 10.10am
Spectrum of molecular and clinical heterogeneity in HbH disease in north Indian patients – Dr Reena Das, Chandigarh
10.10am to 10.30am
Role of borderline Hb A2 in carrier detection of beta thalassemia - Dr Anita Nadkarni, Mumbai
10.30am to 10.50am
Next generation technologies for rare mutation detection - Dr Prashant Khadke, Mumbai
11.00am to 11.30am
Break for Tea/Coffee and viewing the Posters
11.30am to 1.00pm
Session IV: Genetics of Complex Diseases
Chairpersons: Dr AJS Bhanwer, Dr K Thangaraj
11.30am to 11.50am
ITGAM and lupus susceptibility: From genetic association to causal variant identification - Dr Swapan Nath, USA
11.50am to 12.10pm
Genetic and epigenetic causes of congenital heart defects - Dr Uppala Radhakrishna, USA
12.10pm to 12.30pm
12.30pm to 12.50pm
Confused Confucius: The circle of complex disorders - Dr Dwaipayan Bharadwaj, New Delhi
Elucidation of genetic and cellular defect in Neurodevelopmental and Neuropsychiatric disorders – Dr Dhanjit Das,
Mumbai
1.00pm to 2.00pm
Lunch and viewing the posters
2.00pm to 3.30pm
Oral Presentations (O10 to O18)
Chairpersons: Dr Hema Prasad, Dr. V. Babu Rao
Oral Presentations
(10 minutes each)
1. Whole-exome sequencing helps characterize a rare highly penetrant familial disorder, turning epidemic in a village of
Jammu and Kashmir, India- Dr Swarkar Sharma, Jammu
2. FISH for Prenatal, Post-natal, and Preimplantation Genetic Diagnosis-: Dr Lim Jee Hian, Malaysia
3. Masking of the commonest Indian beta-thalassaemia lesion IVS 1 nt 5 [G>C] by different δ-globin gene defects- Ms Stacy Colaco,
Mumbai
4. Molecular karyotyping for prenatal diagnosis- Dr Manjeet Mehta, Mumbai,
5. Effect of hydroxyurea on microRNA expression and its role in fetal hemoglobin induction in sickle cell anemia patients- Dr Madhavi
Sawant, Mumbai
6. Validation of nsSNPs for pharmacogenetic analysis amongst hypertensive Punjabi population- Dr Praveen P Balgir, Patiala
7. Identification of novel disease genes/mutations for single gene disorders through homozygosity mMapping and whole exome
sequencing- Mr Aneek Das Bhowmik, Hyderabad
8. Chromosomal aberrations and importance of genetic counseling: A study of 288 couples with bad obstetric history Dr Shailesh Pande, Mumbai
9. Genomic studies of high altitude pulmonary edema, a critical condition in susceptible sojourners- Dr Soma Sarkar, New Delhi
3.30pm to 4.00pm
Break for Tea/Coffee and viewing the Posters
4.00pm to 6.00pm
Session VI: Pharmacogenomics
Chairpersons: Dr Nilima Kshirsagar , Dr. B. R. Das,
4.00pm to 4.25pm
Pharmacoepigenomics of Malaria and its Relevance - Dr Satyamoorthy, Manipal
4.25pm to 4.45pm
Understanding therapeutic practice in Schizophrenia using pharmacogenomic approach; an Indian perspective –
Dr. Moinak Banerjee, Thiruvananthapuram
4.45pm to 5.10pm
Optimal dosing of warfarin in Indian Population: Contribution of Genetic polymorphisms - Dr Shrimati Shetty, Mumbai
5.10pm to 5.35pm
Pharmacogenomics and Drug Discovery and Development - Dr Sanish Davis, Mumbai
5.45pm to 6.30pm
Poster Presentation (P61 to P120)
6.30 pm to 7.30pm
General Body Meeting (Hall A)
8.00pm to 10.00pm
Dinner
9.30am to 11.00am
Session VII:Chromosomal Diseases
Chairpersons: Dr Smita Mahale, Dr Pratibha Amare
9.30am to 9.50am
Understanding of chromosomal rearrangements: A challenge to Geneticist - Dr Frenny Sheth , Ahmedabad
9.50am to 10.10am
Assessment of DNA Microarray for evaluation of Microdeletion syndromes - Dr Ashutosh Halder, New Delhi
10.10am to 10.30am
Indigenous or Outsourcing? Make in India Molecular Diagnosis of Fragile X Syndrome - Dr Sarita Agarwal, Lucknow
10.30am to 10.50am
Intellectual developmental disorders: A molecular cytogenetic update - Dr Rajasekhar Moka, Manipal
11.00am to 11.30am
Break for Tea/Coffee and viewing the Posters
11.30am to 1.00pm
Oral Presentation (O19 to O27)
Day 3: 30th January 2015
Oral Presentations
(10 minutes each)
( Hall A )
Chairpersons: Dr. Y. M. Italia, Dr Ajit Gorakshakar
1. Mitochondrial DNA diversity and its implications in the genetic history of three different populations of Amini Islander’s of
Lakshadweep- Dr MS Mustak, Mangalore
2. Genetic association study and gene expression analysis revealed osteoprotegerin as candidate gene for otosclerosisDr Sourabh Priyadarshi, Bhubaneshwar
3. Clinical, Haematological, Molecular characterization and response to hydroxyurea treatment of symptomatic 17 HbSE cases in Eastern
India: The largest series in world- Dr Siris Patel, Burla
4. Mitochondrial somatic mutations in Human gastric Cancer- Ms Bhagya Bhavana, Hyderabad
5. Clinical Exome sequencing to aid diagnosis- Case studies and lessons learnt- Dr Nandita M, Bangalore
6. The etiopathogenesis of human genetic disease- Translating basic research to clinic- Dr Radha Saraswathy
7. Association of Monocyte chemoattractant protein-1 (MCP-1) gene polymorphisms [-2518 A>G (rs1024611) and I/D (rs3917887)] with
T2D and ESRD patients from population of Punjab – Dr AJS Bhanwer, Amritsar
8. Studies on obese breast cancer patients with leptin gene polymorphism- Dr Kaiser Jamil, Hyderabad
9. Development of multiplex PCR based method for diagnosis of Duchenne Muscular Dystrophy (DMD) in the patients attending PGIMS
hospital- Dr Daya Shankar Lal Srivastava, Rohtak
1.00pm to 2.00pm
Lunch
2.00pm to 2.30pm
Poster presentation (P121 to P185)
9.30 am to 11.00am
Session VIII: Genetics Epidemiology
Chairpersons: Prof Virginia Kimonis, Dr Kunal Ray
9.30am to 9.50am
Nutrient-Mediated Teratogenesis and Risk of Diabesity in Indians - Dr Giriraj Chandak, Hyderabad
Day 3: 30th January 2015
9.50am to 10.10am
10.10am to 10.30am
( Hall B )
Palaeolithic Antiquity and Continuity of Indian Populations: Genomic and Non-Genomic Evidences –
Prof V R Rao, New Delhi
Sickle Cell Anaemia- Community Control Program for Tribal Population Groups of Satpuda Hilly Ranges from Nandurbar,
Dist Maharashtra – Dr S L Kate, Pune
10.30am to 10.50am
11.00am to 11.30am
Break for Tea/Coffee and viewing the Posters
11.30am to 1.00pm
Oral Presentation (O28 to O36)
Presentations
(10 minutes each)
Chairpersons: Dr Devila Sahu, Dr Manisha Madkaikar
1. Surface Layer Protein-A (SlpA): A protein domain of the Lactobacillus sp. with anti-cancer activity on GIT cancer cell linesDr Ranjith Kumavath, Kerala
2. Role of ADAM33-S2 (G/C) gene polymorphism in the etiology of COPD in south Indian population-Ms Vijaya Laxmi K, Hyderabad
3. Association of PGC-1α Gene with Type 2 Diabetes in Three Unrelated Ethnic Groups of North-West India –
Dr Rubina Sharma, Amritsar
4. Association of cytokine gene polymorphism with periodontal disease- Dr Manikandan G R, Trivandrum
5. TP53 polymorphisms and chromosomal instability in Breast Cancer patients: A follow up study- Dr Sarika Sharma, Amritsar
6. A Common Functional Genetic variant of Pancreastatin profoundly increases the risk for cardiometabolic diseases in Indian populationDr Prasanna KR Allu, Chennai
7. Genotypes of CYP1A1, SULT1A1 and SULT1A2 and risk of squamous cell carcinoma of the esophagus in Kashmir, India; outcome of a
case-control study- Dr Idrees Ayoub Shah, J&K
8. Role of Shh-G1i1 signaling Novel Transcription Factor BM1 in Medulloblastoma Development- Dr Mohammed Afzal, Aligarh
9. Genetics of Fetal Hemoglobin- Dr Aparna Bhanushali, Mumbai
1.00pm to 2.00pm
2.00pm to 2.30pm
Lunch
Poster presentation (P121 to P185)
2.30pm to 3.30pm
Plenary Session-III (Main Auditorium)
Chairpersons: Prof Ken McElreavey, Dr Balraj Mittal
2.30pm to 2.55pm
Darwin to DNA – Story of Evolution Retold - Dr K Ghosh, Mumbai
2.55pm to 3.20pm
Ethical issues in Human Genetics Research - Dr Roli Mathur, New Delhi
3.30pm to 4.30pm
Plenary Session-IV
Chairpersons: Dr Malay Mukherjee, Dr Prochi Madon
3.30pm to 3.50pm
3.50pm to 4.10pm
Next Generation Human Genetics: Opportunities and Challenges - Dr Arindam Maitra, Kolkata
Innovations in chromosome analysis using automated digital imaging technologies and multi-color Spectral Karyotyping
(SKY®) - Dr Michael Koehler, Germany
4.10pm to 4.30pm
Advances in Preimplantation Genetic Screening - Dr Alan Thornhill, UK
4.30pm to 5.00pm
Valedictory function followed by Tea