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Day 1 Schedule
FRIDAY, 11th DECEMBER 2026
event
Main Conference Day 1
badge
Organising
Team
08:00
onwards
Registration & Welcome Desk
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
TBD
17:00
– 17:30
Quiz
Grand
Event
18:30
– 19:30
INAUGURATION CEREMONY FOLLOWED BY DINNER
location_on VENUE: Hotel Artezia
Inauguration Ceremony [60 min]
Day 2 Schedule
SATURDAY, 12th DECEMBER 2026
event
Main Conference Day 2
emoji_food_beverage
All
Delegates
08:00
onwards
Morning Tea
SESSION 6
THE LAUNCHPAD: PLATFORM PRESENTATIONS
Session Chairpersons: TBD
08:00
– 09:00
Selected
Abstract Presenters
Platform Presentations
6 presenters, 8 min + 2 min Q&A
each
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
celebration
19:00
onwards
Evening
Gala