Sunday, January 21, 2024
08:30 – 10:00 | WORKSHOP 2 (ROOM 1)
Dr. Ashwin Dalal
Dr. Frenny Sheth
Dr. Thomas Liehr
Centre for DNA Fingerprinting & Diagnostics, India
Dr. Frenny Sheth
Dr. Thomas Liehr
Centre for DNA Fingerprinting & Diagnostics, India
10:30 – 13:30 | OPENING CEREMONY & PLENARY SESSION 1 (HALL A)
10:30 – 11:15 : Conference Opening Speech, Prayers and Lighting the Lamp
11:15 – 11:30 : ISHG President Speech
11:30 – 12:00 : Chief Guest Speech
12:00 – 12:15 : Patrons Speech
12:15 – 13:00 : Prof. Evan Eichler, Washington University, USA
13:00 – 14:00 | Lunch, & Poster Exhibition and Company Exhibitors (HALL A)
14:00 – 16:30 | CONCURRENT SESSION 1 | HALL A
14:00 – 14:25
CO1.1: Stem cell transplantation in ophthalmic disorders
Dr. Sayan Basu, LV Prasad Eye Institute, India
14:25 – 14:50
CO1.6: Management of rare diseases in India
Dr. Madhulika Kabra, AIIMS New Delhi, India
14:50 – 15:15
CO1.3: Results of exon skipping and other gene targeted therapies in Duchenne Muscular Dystrophy
Dr. Siddharth Shah, RICN Hospital, India
15:15 – 15:40
CO1.4: A gene editing based pluripotent stem cell model for Pompe disease
Dr. Vasanth Thamodaran, TIGS, India
15:40 -16:05
CO1.5: Antisense mRNA therapy for spinal muscular atrophy in India
Dr. Neelu Desai, Hinduja Hospital, India
16:05 – 16:30
CO1.2: Stem cell transplantation for Lysosomal storage disorders
Dr. Sunil Bhat, Narayana Group of Hospitals, India
14:00 – 16:30 | CONCURRENT SESSION 2 | HALL B
14:00 – 14:25
CO2.1: Empowering genomic discoveries globally by leveraging newly developed blended genome-exome product
Dr. ricky Magner, Broad Institute, MIT, USA
14:25 – 14:50
CO2.2: Framework for evaluation of new or modified sequencing technology for use in human genetics
Michael Gatzen, Broad Institute, MIT, USA
14:50 – 15:15
CO2.3: Mitochondrial variant calling in 56,000 individuals in gnomAD
Megan Shand, Broad Institute, MIT, USA
15:15 – 15:40
CO2.4: From genetics to genomics: Lessons learnt from the UK 100,000 genomes project and UK Biobank
Prof. Sir John Burn, Newcastle University, UK
15:40 -16:05
CO2.5: Personal to Populations and back – Genomics and Precision Medicine for all
Dr. Vinod Scaria, IGIB, New Delhi, India
16:05 – 16:30
CO2.6: Genetic and cellular mechanisms in neurodevelopmental disorders
Dr. Raghu Padinjat, NCBS-TIFR, India
16:30- 17:30 | Tea Break, & Poster Company Exhibitors and Poster Exhibition (HALL A)
18:00- 22:30 | Evening get-together, culture show and dinner (VENUE: Vishala, Ahmedabad)
Monday, January 22, 2024
08:30 – 10:00 | WORKSHOP 3 (ROOM 1)
Dr. Apoorv Thittayil Suresh
Senior Editor, The Lancet Regional Health SEA, India
10:00- 10:30 | Tea Break
08:45 – 09:30 | PLENARY SESSION 2 (HALL A)
08:45 – 09:30
Prof. Sir John Burn, Newcastle University, UK
09:30 – 11:10 | CONCURRENT SESSION 3 | HALL A
09:30 – 09:55
CO3.1: (TBC)
Prof. Ken McElreavy, Pasteur institute, France
09:55 – 10:20
CO3.2: Genetics of embryo implantation
Dr. Deepak Modi, ICMR-NIRRCH, Mumbai, India
10:20 – 10:45
CO3.3: (TBC)
Dr Anu Bashamboo, Pasteur Institute, France
10:45 – 11:10
CO3.4: Maternal and Neonatal outcome following IVF in India
Dr Manish Banker, IVF Specialist, Ahmedabad, India
09:30 – 11:10 | CONCURRENT SESSION 4 | HALL B
09:30 – 09:55
CO4.1: Multilayer organization of chromosomes and its implications in cytogenetics
Prof. Joan Ramon Daban, Spain
09:55 – 10:20
CO4.1: Chromosomic Database
Prof. Thomas Leihr, Jena University, Germany
10:20 – 10:45
CO4.3: Structural and functional characterisation of human chromosomal abnormalities- A special emphasis on ring chromosomes
Prof. Peining Li, Yale School of Medicine, USA
10:45 – 11:10
CO4.4: Balanced chromosomal rearrangements: Insights into genomic features associated with developmental disorders
Prof. Niels Tommerup, University of Copenhagen, Denmark
11:10- 11:40 | Tea Break
11:45 – 14:15 | CONCURRENT SESSION 5 | HALL A
11:45 – 12:10
CO5.1: New clinical science of Gaucher disease, biomarkers and therapeutic targets
Prof. Pramod Mistry, Yale School of Medicine, USA
12:10 – 12:35
CO5.2: Compassionate programmes for LSDs – the advantages and drawbacks
Prof. Atul Mehta, National Health Service, UK
12:35 -13:00
CO5.3: Harnessing the lysosome
Dr. Ashok Vellodi, National Health Service, UK
13:00 – 13:25
CO5.4: Our experience in treating patients with MPS disorders
Dr. Sujatha Jagdish, FRCF, India
13:25 – 13:50
CO5.5: Treatment and challenges for Gaucher Disease management in India
Dr. Mamta Muranjan, KEM Hospital, India
13:50 – 14:15
CO5.6: Difficulties in the diagnosis and challenges for Fabry disease
Dr. Sheela Nampoothiri, AIIMS Kerala, India
11:45 – 14:15 | CONCURRENT SESSION 6 | HALL B
11:45 – 12:10
CO6.1: Molecular effects of albinism in India and its therapeutic implications
Prof. I.C. Verma, Sir Gnga Ram Hospital, India
12:10 – 12:35
CO6.2: Zebrafish as a tool to study epigenomics of rare genetic disorders
Dr. Sridhar Sivasubbu, CSIR-IGIB, India
12:35 – 13:00
CO6.3: (TBC)
Prof. Virginia Kimonis, UC Irvine, USA
13:00 – 13:25
CO6.4: Differential genetic architecture of Type 1 and Type 3 Gaucher diseas
Dr. Jayesh Sheth, FRIGE Institute of Human Genetics, India
13:25 – 13:50
CO6.5: Multi-Omic analysis to understand phenotypic heterogeneity of sickle cell anaemia
Dr. Giriraj Ratan Chandak, CSIR-CCMB, Hyderabad, India
13:50 – 14:15
CO6.6: Molecular heterogeneity of adult onset Pompe disease in India
Dr. Ratna Dua Puri, Sir Ganga Ram Hospital, India
11:45 – 14:15 | CONCURRENT SESSION 6 | HALL B
11:45 – 12:10
CO6.1: Molecular effects of albinism in India and its therapeutic implications
Prof. I.C. Verma, Sir Gnga Ram Hospital, India
12:10 – 12:35
CO6.2: Zebrafish as a tool to study epigenomics of rare genetic disorders
Dr. Sridhar Sivasubbu, CSIR-IGIB, India
12:35 – 13:00
CO6.3: (TBC)
Prof. Virginia Kimonis, UC Irvine, USA
13:00 – 13:25
CO6.4: Differential genetic architecture of Type 1 and Type 3 Gaucher diseas
Dr. Jayesh Sheth, FRIGE Institute of Human Genetics, India
13:25 – 13:50
CO6.5: Multi-Omic analysis to understand phenotypic heterogeneity of sickle cell anaemia
Dr. Giriraj Ratan Chandak, CSIR-CCMB, Hyderabad, India
13:50 – 14:15
CO6.6: Molecular heterogeneity of adult onset Pompe disease in India
Dr. Ratna Dua Puri, Sir Ganga Ram Hospital, India
14:15 – 15:15 | Lunch, Poster Exhibition and Company Exhibitors
15:15 – 16:45 | ISHG YOUNG SCIENTIST AWARD LECTURES (HALL A)
15:15 – 15:25
ISHG-YSA1.1
TBC
15:25 – 15:35
ISHG-YSA1.2
TBC
15:35 – 15:55
ISHG-YSA1.3
TBC
15:55 – 16:05
ISHG-YSA1.4
TBC
16:05 – 16:15
ISHG-YSA1.5
TBC
16:15 – 16:25
ISHG-YSA1.6
TBC
16:25 – 16:35
ISHG-YSA1.7
TBC
16:35 – 16:45
ISHG-YSA1.8
TBC
15:15 – 16:45 | POSTER EXHIBITION AWARD (POSTER ROOM)
16:45 – 17:15 | Tea Break
17:15 – 18:45 | PLENARY SESSION 3 (HALL A)
17:15 – 18:00
PL3.1: A de novo paradigm for sporadic genetic disease
Prof. Joris Veltman, Newcastle University, UK
18:00 – 18:45
PL3.2: LD Sanghvi Oration Lecture
TBC
18:45 – 19:45 | ISHG COMMITTEE MEETING (MEETING ROOM)
17:30- 21:00 | Conference Dinner
Tuesday, January 23, 2024
12:05 – 13:30 | WORKSHOP 4 (WORKSHOP HALL)
Dr. Seema Kapoor,
Maulana Azad Medical college and Hospital, New Delhi, India
Dr. Deepa Banker,
SVP Hospital and NHL Medical college, Ahmedabad, India
12:05 – 13:30 | WORKSHOP 5 (WORKSHOP ROOM 1)
Premas Lifesciences Pvt. Ltd, India
10:00- 10:30 | Tea Break
08:45 – 09:30 | PLENARY SESSION 4 (HALL A)
08:45 – 09:30
PL4.1: The effect of human genetic variation on phenotypic variation
Prof. Stylianos Antonarkis, Geneva University, Switzerland
09:30 – 11:35 | CONCURRENT SESSION 7 | HALL A
09:30 – 09:55
CO7.1: Development of frameshift peptide antigen based vaccine for cancer prevention in Lynch syndrome patients
Prof. Matthias Kloor, University of Heidelberg, Germany
09:55 – 10:20
CO7.2: Indigenous development of CAR-T cell therapy
Dr. Rahul Purvar, IIT Bombay, India
10:20 – 10:45
CO7.3: Development and deployment of PARP inhibitors for BRCA mutated cancers
Dr. Asima Mukhopadhyay, South Tees Hospital NHS, UK
10:45 – 11:10
CO7.4: Lessons from 10,000 genomes project: Precision medicine oncology from bench to bedside
Dr. Bhawna Sirohi, BALCO Medical, India
11:10 – 11:35
CO7.5: Hereditary cancer testing: experience and statistics
Dr. Ramesh Hariharan, Strand Lifesciences, India
09:30-11:00 | CONCURRENT SESSION 8 | HALL B
09:30 – 09:55
CO8.1: The societal implications of Genetics and Genomic Research
Prof. Stylianos Antonarakis, Geneva University, Switzerland
09:55 – 10:20
CO8.2: DNA methylation biomarkers and therapeutic targets for neurological disorders
Dr. Uppsala Radhakrishna, University of Pittsburgh, USA
10:20 – 10:45
CO8.3: Genomic diversity in India
Dr. K Thangraj, Centre for DNA Fingerprinting & Diagnostics, Hyderabad
10:45 – 11:10
CO8.4: Statistical methods in understanding human diseases
Prof. Partha Mazumdar, NIBMG, Kolkata
11:10 – 11:35
CO8.5: Unravelling the genetics of young onset Parkinson disease in India
Dr. Vedam Ramprasad, MedGenome Pvt Ltd, India
11:35 – 12:05 | Tea Break
13:30 – 14:30 | Lunch, Poster Exhibition and Company Exhibitors
14:30-17:00 | PLENARY SESSION 5 (HALL A)
14:30 – 14:50
PL5.1: N=1- How Lysosomal Diseases Got on the Map
Dr. Robin Ely, National Gaucher Foundation, USA
14:50 – 15:15
PL5.2: Pompe disease- an exemplar for diagnosis, treatment and prevention
Dr. Priya Kishnani, Duke University, USA
15:15 – 15:35
PL5.3: Sustainable role of pharmaceutical companies in orphan drug develop and drug repurposing for rare genetic disorders in India
Dr. Sanjay Maroo, Torrent Pharma India/ IPA Consortium
15:35 – 15:50
PL5.4: Sanofi-Genzyme Charitable Access Program and DISHA Program
Sanofi-Genzyme, India
15:50 – 16:05
PL5.5: Challenges in the ERT treatment of LSDs in India
Prof. Meenakshi Bhat, CHG Bengaluru, India
16:05 – 16:25
PL5.6: National and State government guidelines, role and support in drug development and repurposing for rare diseases in India
Dr. Onkar Tiwari, Department of Biotechnology, India
Dr. Snehal Bagtharia, Gujarat State Biotechnology Mission, India
16:25 – 16:40
PL5.7: National Rare Disease Policy and its implication on healthcare delivery in India
Dr. L Swasticharan, DDG Ministry of Health and Family Welfare, GOI, India
16:40 – 17:00
PL5.7: Open Panel Discussion- Direct to consumer testing in India
Dr. Vedam Ramprasad, MedGenome Ltd., India
Dr. Ramesh Hariharan, Strand LifeSciences Ltd., India
Dr. Sudha Rao, Dhitiomics Ltd., India
Dr. Ashwin Dalal, Centre for DNA Fingerprinting & Diagnostics, India
Prof. Sir John Burn, Newcastle University, UK
17:00 – 17:30 | Tea Break
17:30 – 18:30 | PLENARY SESSION 6 (HALL A)
17:30 – 18:00
PL6.1: Dr. I. C. Verma Lifetime Achievement Award
TBC
18:00 – 18:30
PL6.2: Increasing diagnostic rate in rare diseases- lessons learnt from Whole Genome Sequencing
Prof. Shrikant Mane, Yale University, USA
19:00- 21:00 | Conference Dinner
Wednesday, January 24, 2024
09:00-11:05 | CONCURRENT SESSION 9 | HALL A
09:00 – 09:25
CO9.1: Cardiomyopathies: genotype-phenotype correlation
Prof. Ajay Bahl, Fortis Hospital, India
09:25 – 09:50
CO9.2: Surgical management of congenital birth defects
Dr. Maulin Shah, Orthokids Clinic, India
09:50 – 10:15
CO9.3: The Socio-political implications of New born screening programme in India
Dr. Radha Rama Devi, Rainbow Children Hospital, India
10:15 – 10:40
CO9.4: Consanguinity: a cause for burden of rare genetic disorders
Dr. Ajit Gandhi, India
10:40 – 11:05
CO9.5: Proteomic analysis of congenital metabolic disorders by mass spectrometry
Dr. Usha Dave, MILS International, India
09:00-11:05 | CONCURRENT SESSION 10 | HALL B
09:00 – 09:25
CO10.1: Interventional genomics in rare neurological diseases
Prof. Udai Bhan Pandey, University of Pittsburg Medical Centre, USA
09:25 – 09:50
CO10.2: Monoamines, mitochondria and aging
Prof. Vidita Vaidya, TIFR, Mumbai, India
09:50 – 10:15
CO10.3: Genomic quest in rheumatoid arthritis: traversing from a novel GWAS finding to a promising drug target
Prof. BK Thelma, JNU, New Delhi, India
10:15 – 10:40
CO10.4: Deciphering genetic architecture of autism spectrum disorders in India
Dr. Harsh Sheth, IHG, Ahmedabad, India
11:00 – 11:30 | Tea Break
11:30-13:00 | PLENARY SESSION 7 (HALL A)
11:30 – 13:00
PL7.1: Valedictory function, prize distribution and conference closure
Dr. Jayesh Sheth, IHG, India
Prof. Chaitanya Joshi, India
Dr. BK Thelma, ISHG President
Dr. Inderjeet Kaur, ISHG Secretary
Dr. Harsh Sheth, IHG, India
Dr. Madhvi Joshi, GBRC, India
13:00 – 14:30 | Lunch
