Program




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
  Completing Registration
09:00-10:00 Welcome / Inauguration
Dr. Sumita Danda/ Local team
Prof. Dhavendra Kumar
Chief Guest - TBC
10:00-10:30 Tea/Coffee/Snack break
10:30-11:30 KEY NOTE LECTURE I:
Professor Dian Donnai, Manchester, UK

Chairs:
Dr. Shubha Phadke
Dr. M Naveed

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
Dr. 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
Dr. Siddharta Banka


Chairs:
Dr. Sridhar Gibikote
Dr. Meenakshi Bhat
Prof. Eamonn Maher
13:30-14:15 Lunch
14:15-15:45 SESSION II: CLINICAL DYSMORPHOLOGY (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 KEYNOTE LECTURE II: DNA VARIATIONS IN BIRTH DEFECTS
Dr. Shrikant Mane, Yale University School of Medicine, USA

Chairs:
Prof. Dhavendra Kumar
Dr. RatnaPuri
Dr. 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

08:30-09:15

KEY NOTE LECTURE:

Molecular genetic investigation of foetal structural anomalies

Prof.Eamonn Maher, Cambridge,

Registration/ Tea/Coffee/Snacks

Chairs
Dr. Girish Katta
Dr. Sheela Nampoothiri
Dr. Manisha Beck

09:15 - 10:15

QUIZ on RARE Diseases Dr. Krati Shah & Dr. Sujatha Jagdeesh

 

10.15-11.15

THE DR. SS AGARWAL ORATION
By Prof. Dhavendra Kumar, Cardiff, UK
Moderator: Prof. Madulika Kabra, President SIAMG, India

 

11—11.15

Tea/Coffee

11.45-12.45 SESSION IV:
Indian Horizon Expanding phenotypes of Monogenic Birth Defects - Novel findings from NGS in cases 
(one or two cases per person - 10mins each)

1. Skeletal Dysplasia {Dr. Neerja Gupta}
2. Intellectual Disability {Dr. RatnaPuri}
3. Dysmorphology {Dr. PrajnyaRanganath}
4. Rasopathy – {Dr. Sheetal Sharda}
5. Fetal-prenatal {Dr. Shagun Agarwal}
Chairperson:
Dr. Monish Suri
Dr. Kuldeep Singh
Dr. Inusha Panigrahi 
Dr. Sankar V

 12.45-1.45

Question Answer 10mins

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

Panellist from state wise centre
1. New Delhi - Dr. Seema Kapur / Dr. Sunita Bijarnia
2. Kerala – Dr. Sankar V / Dr. Sheela Nampoorthii
3. Tamilnadu - Dr. S Danda / Dr. Srilakshmi G
4. Hyderabad – Dr. Radha Rama Devi
5. Karnataka – Dr. Meenakshi Bhat
(7 mins presentation from each centre followed by comments of moderators and discussion}

 

13:45-14:30

Lunch

14:30-16:15

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:
Dr. Shirley Hodgson
Dr. Ashish Singh
Dr. Renu George
Dr. Atanu Dutta

16:15-16:30

Tea/Coffee

16:30-17:30

Dr IC Verma Outstanding Researcher Award Moderator: 
Prof. IC Verma, SGRH, New Delhi, India

Video conference

17:30-18:30

SESSION VI: GENOMIC PERSPECTIVES OF GROWTH DISORDERS

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

Genetic Heterogeneity In Short Limbed Dysplasias
Dr. Charu Deshpande, London, UK

Monitoring of IUGR prenatally 
Dr. Antoni Borell, Barcelona , Spain

Chairs:
Dr Helen Stewart
Dr. Anna Simon
Dr. Reena Gulati
Dr. Vrisha Madhuri
Dr. Reeta Selvi
Dr. SJ Patil

18:30-19:15

Industry in management of birth defects
Dr. Ramprasad VL
Mr. Anil Raina, Dr. Jayesh Sheth

Lead
Dr. Ashwin Dalal/ Dr. Kausik Mandal

19:15 – 19:30

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
CANCER GENETICS
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Workshop 2
CURRENT TRENDS IN CARDIOVASCULAR GENETICS/ GENOMICS
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Workshop 3
Genetic Counselling
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CME on
Rare Diseases 2:00 PM - 4.30 PM
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