Program




4th International Birth Defects Conference
12th-15th December 2018 | Christian Medical College, Vellore (Tamil Nadu), India
"Birth Defects in Genomic Era"
Organized by: Department of Clinical Genetics, Christian Medical College, Vellore, TN, India
Conference Day 1
12th December 2018 (Wednesday)
Time Topic
17:30 - 19:00 Registration
19:00 Onwards Mixer Welcome/ Social Evening with Delegates/ Faculty

Conference Day 2
13th December 2018 (Thursday)
Time Topic CHAIRPERSON
08:30-09:30 Registration/ Tea/Coffee/Snack
09:30-10:30 Welcome / Inauguration
Dr. Sumita Danda/ Local team
Prof. Dhavendra Kumar
Chief Guest - TBC
10:30-11:30 KEY NOTE LECTURE I: GLOBAL PERSPECTIVES OF CONGENITAL MALFORMATIONS
Professor Dian Donnai, Manchester, UK

Chairs:.

Dr I C Verma , Dr Shubha Phadke

11:30-13:30 SESSION I: BIRTH DEFECTS IN CLINICAL GENETICS & GENOMICS

Deciphering the Birth Defects Phenotypes
Dr. Mohnish Suri, Nottingham, UK

Neuromuscular Phenotypes in Clinical Neurogenetics
Mark Rogers, Cardiff, UK

Neuroimaging Phenotypes in Clinical Genetics/Genomics
Dr. Helen Stewart, Oxford, UK

Cardiovascular Phenotypes in Clinical Genetics/Genomics
Prof. Dhavendra Kumar, Cardiff, UK
Chairs:
Dr Sujatha Jagdeesh
Dr Maya Thomas, Siddharta Banka


Chairs:
Dr Sridhar Gibikote,
Dr Meenakshi Bhat
Dr amonMaher
13:30-14:15 Lunch
14:15-15:45 SESSION II: CLINICAL DYSMORPHOLOGYI (OPEN/ ABSTRACTS) Dr SS Agarwal Young Scientist Award

Panel:
Professor Dian Donnai, Dr Madhulika Kabra India
Dr. Helen Stewart (Oxford, UK) Dr. Koumodi Godbole"
15:45-16:00 Tea/Coffee
16:00-17:30 SESSION III: GENOTYPING IN DECIPHERING OF BIRTH DEFECTS (OPEN/ABSTRACTS)
Lead: Dr. Siddharth Banka, Manchester, UK
Chairs:
Dr Nicola Poplawski,
Dr AshutoshHalder
Dr Ashwin Dalal
17:30-18:30 KEY NOTE LECTURE II: EMERGING PARADIGMS OF ‘GENE-MOLECULAR’ CLUSTERS IN CLINICAL DYSMORPHOLOGY
Dr. Leslie Biesecker, NIH, Bethesda, USA (TBC)
Chairs:
Prof. Dhavendra Kumar,
Cardiff, UK, RatnaPuri S Danda
18:30-19:30 Comfort Break
19:30 Onwards Social / Entertainment / Informal Dinner

Conference Day 3
14th December 2018 (Friday)
Time Topic CHAIRPERSON
08:00-08:30 Registration/ Tea/Coffee/Snacks
08:30-09:00 QUIZ on RARE Diseases Dr Krati Shah, Dr Sujatha Jagdeesh
09:00-10:30 KEY NOTE LECTURE: EPIGENETICS & EPIGENOMICS OF BIRTH DEFECTS
Prof. Eamonn Maher, Cambridge, ChairL Biesecker Girish Katta SheelaN
10:30-11:30 THE DR. SS AGARWAL ORATION
By Prof. Dhavendra Kumar, Cardiff, UK
(TBC) Moderator: Prof. Madulika Kabra, President SIAMG, Lucknow, India
11:30-12:00 Tea/Coffee
12:00-13:45 SESSION IV:

Expanding phenotypes of Monogenic Birth Defects - Novel findings from NGS in cases
(one or two cases per person - 10mins each)

1. Skeletal {Neerja}
2. Intellectual Disability {Ratna}
3. DysmorphologyPrajnya /
4. Acute IEM {Sunita Bijarnia}
5. Fetal-prenatal Shagun A

Question Answer 10mins

Panel Discussion:
Sustainable Access to Treatment - Changing Indian Scenario-Thalassemia / Hemophilia / NBS / LSD
Moderators:
Dr Shubha Phadke and Dr Madhulika Kabra

Tentative Panellist from state wise centre
1. New Delhi - Seema Kapur
2. Kerala -Sankar V
3. UP,Lucknow Kausik
4. Tamilnadu (Sumita D/ Srilakshmi G)
5. Hyderabad - Radha Rama devi
(7 mins presentation from each centre followed by comments of moderators and discussion}
Chairperson:
Monish Suri,
Kuldeep Singh Inusha P,
Mamta M
13:45-14:30 Lunch
14:30-16:00 SESSION V: NEOPLASIA IN CLINICAL DYSMORPHOLOGY

Childhood Ocular Tumours- The Paradigm Of Retinobalstoma
Dr. Helen Stewart, Oxford, UK

Neoplasia In Neurofibromatosis And Other Neuro-Cutaneous Diseases
Nicola Poplawski, Adelaide, Australia

Complexities Of Wilm’s Tumour
Prof. Eamonn Maher, Cambridge, UK
Chairs:
Shirley Hodgson, Meenal Agarwal,
Ashish Singh, Renu George
16:00-16:30 Tea/Coffee
16:30-17:30 Dr IC Verma Outstanding Researcher Award Moderator:
Prof. IC Verma, SGRH, New Delhi, India
17:30-18:30 SESSION VI: GENOMIC PERSPECTIVES OF GROWTH DISORDERS

Phenotype-Genotype Correlation In Obesity Syndromes
Mieke van Haelst, Amsterdam, The Netherlands

Genetic Heterogeneity In Short Limbed Dysplasias
Charu Deshpande, London, UK
Monitoring of IUGR prenatally
Dr Antoni Borell, Barcelona , Spain
Chairs:
Helen Stewart, Sara Mathai,
Reena Gulati Manisha Beck
18:30-19:30 Panel (TBC) Industry in management of birth defects- Lead Dr Ashwin Dalal Valedictory function Close of Conference
19:30 Onwards Formal Dinner with South Indian Musical Evening

Conference Day 4
15th December 2018 (Saturday)
PARALLEL CLINICAL WORKSHOPS: CLINICAL CASES & INTERACTIVE
WORKSHOP 1 WORKSHOP 2 WORKSHOP 3 CME on Rare Diseases 2:00 PM - 4.30 PM

CANCER GENETICS
Lead (Foreign) : Shirley Hodgson, London, UK
Abraham Peediacy,l Ashish Singh, CMC Vellore India
Shirley Hodgson- Colo-Rectal Cancer
Prof. Eamon Maher- Renal Cell Cancer
Mark Rogers- Polyposis Syndromes
Nicola Poplawski - Cancer In Neurocutaneous Disorders
Dr. Helen Stewart- Retinoblastoma/ Eye Tumours
Humphrey Hodgson- Hepato-Biliary
& Pancreatic Cancers

Prof Partho Majumder (TBC)

GENETIC/ GENOMIC COUNSELLING
Lead: Dr. Girisha Katta, Anju Shukla Manipal
Shagun Agarwal NIMS Hyderabad

Lead Foreign : Lori Dean , Antoni Borell, Smita Rao (UK)

Faculty topics/Consentt/ Confidentiality/ Ethics
Reproductive Options/Prenatal/ Fetal Medicine Etc.
Genetic Counselling For Genome Sequencing Testing
Issues With Rare Genetic Diseases

CURRENT TRENDS IN CARDIOVASCULAR GENETICS/ GENOMICS
Lead:Foreign

Prof. Dhavendra Kumar, Prof. Pier Lambiase, Prof Arthur Wilde, Prof. Perry Elliott, Dr. Tessa Homfray

Co-Lead: Dr. Viji Samuel, Vellore, India, Dr K Thangaraj CCMB, SJ Patil Narayana Hridalaya

Cardiovascular Developmental Disorders Aortic And Arterial Diseases Including Connective Tissue
Cardiac Muscle Diseases
Cardiac Conduction And Rhythm Disorders
Therapeutic Options For Inherited Heart Disease
Cascade Testing And Surveillance For Prevention
Sudden Cardiac Death- Issues And Protocols

Lead
Parag T,Sanjeeva G Radha Rama Devi,Jayesh Seth
Dr Krati Shah , Jayesh Seth
Case presentation LSD
Case presentations Dysmorphology
Case presentations Metabolic
Case presentation immunology