Scientific Programme

Precision Genomics: Care for Rare

location_on Hotel Artezia (Formerly Hotel Shangri-La), Vasanth Nagar, Bengaluru • calendar_today December 11–13, 2026
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Day 1 Schedule

FRIDAY, 11th DECEMBER 2026

event Main Conference Day 1
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08:00 onwards

Registration & Welcome Desk

Organising Team
SESSION 1

OPENING LECTURE

Session Chairpersons: TBD
09:00 – 09:20 The Year Gone By: Forging Ahead with Care for Rare
Dr Ratna Dua PuriPresident SIAMG
09:20 – 09:50 Somatic mosaic genetics in neurological disorders
Dr Christopher Walsh
09:50 – 10:00 Q&A session
coffee
10:00 – 10:20 AM

Tea / Refreshment Break

SESSION 2

FACE VALUE - UNMASKING THE SECRETS OF DYSMORPHOLOGY

Session Chairpersons: TBD
10:20 – 10:25 Introduction
10:25 – 10:55 Dysmorphology – is it still relevant in the Genomic era?
Dr Charulata Deshpande
10:55 – 11:25 The Genetic Basis of Craniosynostosis: Classic Syndromes and New Findings
Dr Paul Kruszka
11:25 – 11:55 Artificial Intelligence Algorithms in Practice: Shortening the Diagnostic Odyssey in Rare Diseases
Dr Karen Gripp
11:55 – 12:10 Precision Bytes
TBD
12:10 – 12:20 Q&A session
SESSION 3

THE MASTERCLASS: DR SS AGARWAL ORATION

12:20 – 12:30 Dr SS Agarwal Oration – Award Presentation
Dr Ratna Dua Puri & Dr Shubha Phadke
12:30 – 13:00 Oration Talk - Progress made in the diagnosis and care of rare skeletal disorders
Dr Geert René Willem Mortier
restaurant
13:00 – 14:15 PM

Lunch Break and Poster Judging

Posters 1 – 40

SESSION 4

READING THE HEART THROUGH THE GENOME: CARDIAC GENETICS

Session Chairpersons: TBD
14:15 – 14:20 Introduction
14:20 – 14:50 Owner of a Lonely Heart: Genetic Testing in Congenital Heart Disease
Dr Edwin Kirk
14:50 – 15:20 TBD
Dr James Ware
15:20 – 15:35 Precision Bytes
TBD
15:35 – 15:45 Q&A session
SESSION 5

SEQUENCE & CONSEQUENCE: THE BENCHSIDE GENETICS FRONTIER (PART I)

Session Chairpersons: TBD
15:45 – 16:15 International efforts for gene curation and genome variant interpretation: advancing accurate rare disease diagnosis and precision genomics
Dr Julia Foreman
16:15 – 16:35 Therapeutic innovations for treatment of patients with rare diseases
Dr Neerja Gupta
16:35 – 16:45 Q&A session
coffee
16:45 – 17:00

Tea Break

quiz
17:00 – 17:30

Quiz

TBD
Day 2 Schedule

SATURDAY, 12th DECEMBER 2026

event Main Conference Day 2
emoji_food_beverage
08:00 onwards

Morning Tea

All Delegates
SESSION 6

THE LAUNCHPAD: PLATFORM PRESENTATIONS

Session Chairpersons: TBD
08:00 – 09:00
Platform Presentations 6 presenters, 8 min + 2 min Q&A each
Selected Abstract Presenters
SESSION 7

TRAILBLAZER IN FOCUS

Session Chairpersons: TBD
09:00 – 09:40 SS Agarwal Young Scientist Award – Presentation & Felicitation and talk
Dr Sankar VH - SIAMG Treasurer
SESSION 8

GENE DISCOVERY: AN INDIAN PERSPECTIVE

Session Chairpersons: TBD
09:40 – 10:00 Discovering rare skeletal dysplasia in India
Dr Katta Mohan Girisha
coffee
10:00 – 10:20 AM

Tea Break

SESSION 9

UNWIRING THE NEUROGENETICS FRONTIER

Session Chairpersons: TBD
10:20 – 10:25 Introduction
10:25 – 10:55 Convergent genetics of autism spectrum disorders
Dr Christopher Walsh
10:55 – 11:25 TBD
Dr Reza Maroofian
11:25 – 11:55 A founder variant in TBCB causes spastic paraplegia and autism spectrum – the path from a single family to a new syndrome
Dr Karin Weiss
11:55 – 12:10 Precision Bytes
TBD
12:10 – 12:20 Q&A session
SESSION 10

THE AWARD ORATION AND GENE DISCOVERY: AN INDIAN PERSPECTIVE

Session Chairpersons: TBD
12:20 – 13:00 IC Verma Researcher Oration – Introduction & Felicitation and talk
Dr Neerja Gupta - SIAMG Secretary and Dr Madhulika Kabra
restaurant
13:00 – 14:15 PM

Lunch Break | Poster Judging

Posters 41 – 80

SESSION 11

THE NEXT ERA OF REPRODUCTIVE GENETICS

Session Chairpersons: TBD
14:15 – 14:20 Introduction
14:20 – 14:50 Emerging technologies in reproductive genomics
Dr Brynn Levy
14:50 – 15:20 Uncertainties in prenatal exome sequencing
Dr Antoni Borrell
15:20 – 15:50 Whole Genome sequencing vs Chromosomal Microarray in PND
Dr Vaidehi Jobanputra
15:50 – 16:05 Precision Bytes
TBD
16:05 – 16:15 Q&A session
coffee
16:15 – 16:30 PM

Tea Break

SESSION 12

SEQUENCE & CONSEQUENCE: THE BENCHSIDE GENETICS FRONTIER (PART II)

Session Chairpersons: TBD
16:30 – 16:35 Introduction
16:35 – 17:05 CNVs, SNVs and Lenin's Brain: The Problem of Penetrance
Dr Edwin Kirk
17:05 – 17:35 Long-reads read sequencing in genetic diagnostics
Dr Christian Gilissen
17:35 – 17:55 From Disease Modelling to Therapeutic Discovery in Rare Disorders
Dr Aarti Sevilimedu
17:55 – 18:00 Q&A session