Program




Day 1
12th December 2018 (Wednesday)
Time Topic
17:30 - 19:00 Registration
19:00 Onwards Welcome/Social Evening with Delegates/ Faculty

Day 2
13th December 2018 (Thursday)
Time Topic CHAIRPERSON
08:30 Onwards Registration
09:00-10:00 Welcome / Inauguration
Dr.Sumita Danda/ Mohnish Suri / Professor Dhavendra Kumar
10:00-10:30 Tea/Coffee
10:30-11:30 KEY NOTE LECTURE I:
Global Perspectives of Congenital Malformations 
Professor Dian Donnai, Manchester, UK

Dr. Shubha Phadke
Dr. M Naveed
11:30-13:30 SESSION I: PHENOTYPES IN BIRTH DEFECTS
Deciphering the Birth Defects Phenotypes
Dr. Helen Stewart, Oxford, UK


Neuromuscular Phenotypes in Clinical Neurogenetics
Dr. Mark Rogers, Cardiff, UK 

Neuroimaging Phenotypes in Clinical Genetics/Genomics
Dr.Mohnish Suri, Nottingham,UK

Cardiovascular Phenotypes in Clinical Genetics/Genomics
Professor Dhavendra Kumar, Cardiff,UK

Dr. Maya Thomas 
Dr. Siddharth Banka



Dr. Sridhar Gibikote
Dr.Meenakshi Bhat
Prof.Eamonn Maher
13:30-14:15 Lunch
14:15-14:30 Session II
Dr SS Agarwal Young Scientist Award.

Recipient: Dr Anju Shukla, Associate Professor,Department of Medical Genetics, Kasturba Medical College, Manipal.

Professor Dian Donnai,
Professor MadhulikaKabra
Dr. Helen Stewart,
Dr.Koumodi Godbole
14:30-15:20 ORAL ABSTRACTS (4)
Mr. Somashekar PH, Dr. Ranjana Mishra, Dr. Mallikarjun R Patil, Dr. Beena Suresh
15:20-16:00 Poster Session with Tea/Coffee
16:00-16:30 SESSION III:GENOTYPES IN BIRTH DEFECTS
One Genotype - Diverse Phenotypes
Lead: Dr. Siddharth Banka, Manchester, UK

Dr Nicola Poplawski.
Dr Ashutosh Halder.
Dr Ashwin Dalal
16:30-17:30 ORAL ABSTRACTS (5)
Ms. Parneet Kaur, Dr. VS Vineeth, Dr. A Suneetha Susan, Dr. Stephanie Bielas, Dr. Veronica Arora
 
17:30-18:30 KEYNOTE LECTURE II:
DNA VARIATIONS-  Genomics of Birth defects:Congenital Heart Defects and mendelian disorders

Dr. Shrikant Mane, Yale University School of Medicine, USA

Professor Dhavendra Kumar 
Dr.Ratna Puri
Dr. S Danda
19:30 Onwards Faculty Dinner Big Bungalow, CMC Vellore

Day 3
14th December 2018 (Friday)
Time Topic CHAIRPERSON
08:30-09:15 KEY NOTE LECTURE:
Molecular Genetic investigation of foetal structural anomalies
ProfessorEamonn Maher, Cambridge.

Dr. Girish Katta
Dr. Sheela Nampoothiri
Dr. Manisha Beck
09:15-10:00 QUIZ on RARE Diseases:
Dr.Krati Shah & Dr Beena Suresh, Dr Divya P, Dr Atanu K Dutta
GROUP PHOTO
10.00-11.00 THE DR. SS AGARWAL ORATION 
Professor Dhavendra Kumar, Cardiff, UK

Moderator:
Professor. Madulika Kabra,
President SIAMG, India
11.00-11.40 Poster Session with Tea/Coffee
11.40-12.45 SESSION IV: 
Expanding phenotypes of Monogenic Birth Defects; Novel findings from NGS(Indian Scenario )
(10mins presentation)

1. Skeletal Dysplasia - Dr. Neerja Gupta
2. Intellectual Disability - Dr.RatnaPuri.
3. Dysmorphology - Dr.PrajanyaRanganath.
4. Rasopathy – Dr. Sheetal Sharda
5. Fetal/prenatal – Dr.Shagun Agarwal.
Question Answer 15mins

Dr.Mohnish Suri
Dr.Kuldeep Singh
Dr.InushaPanigrahi 
Dr.Sankar V
12.45- 13.45 Panel Discussion:
Sustainable Access to Treatment : Changing Indian Scenario-Thalassemia / Haemophilia / NBS / LSD

Panellist from state wise centre
1. Uttar Pradesh - Professor Shubha Phadke 
2. New Delhi - Dr. Seema Kapur / Dr.SunitaBijarnia 
3. Kerala – Dr.Sankar V / Dr. Sheela Nampoothiri
4. Tamilnadu - Dr. S Danda / Dr.Srilakshmi R
5. Hyderabad – Dr. Radha Rama Devi
6. Karnataka – Dr. Meenakshi Bhat
(5 mins presentation from each centre followed by comments of moderators and discussion)
Moderators: 
ProfessorMadhulikaKabra
ProfessorShubha Phadke 
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 Disorders
Dr Nicola Poplawski, Adelaide, Australia

Complexities Of Wilm’s Tumour predisposition:The Beckwith-Wiedemann Syndrome spectrum
ProfessorEamonn Maher, Cambridge, UK

Dr. Shirley Hodgson

Dr A Peediacyl Dr.Renu George
Dr.Atanu  K Dutta
16:15-16:30 Tea/Coffee
16:30-17:30 Dr IC Verma Outstanding Researcher Award.
Recipient: Dr. Radha Rama Devi
Video conference
Moderator: 
Dr Monish Suri UK
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
 
Dr Helen Stewart
Dr. Anna Simon
Dr Sheela  N
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.JayeshSheth

Dr.AshwinDalal/
Dr.Kausik Mandal
19:15-19:30 Valedictory function  
19:30 Onwards Conference Dinner -Scudder Auditorium

Day 4
15th December 2018 (Saturday)
PARALLEL CLINICAL WORKSHOPS: CLINICAL CASES & INTERACTIVE SESSIONS

 


WORKSHOP 1
CANCER GENETICS WORKSHOP
New Examination Hall
Welcome and Introduction - Dr Shirley Hodgson.
 Date Speaker Topic Time Chairperson/Discussants
9.00-10.15   Dr Shirley Hodgson Familial Cancer Overview 30 mins Dr Abraham Peediacyl
Dr Patricia
Dr Jeba K
Dr Anitha Thomas
Dr Atanu Dutta
Case on Lynch syndrome (Gynae Onco)
Case on Biallelic  Mismatch Repair Deficiency (bMMRD)
(7+ 3)min discussion 15mins
Dr Alka Ekbote Breast cancer- Genetics
20 mins
10.15-10.45 Dr Mark Rogers Polyposis Syndrome 25 mins Dr CE Eapen
Dr Mark Ranjan
Coffee Break 10.45-11.15
11.15 –11.45 Dr. Eamonn Maher Renal Cell Cancer 25 mins Dr Nicola Poplawski
Dr Atanu Dutta
11.45- 12.30  Dr Nicola Poplawski Cancer In Neurocutaneous Disorders 25 mins Dr Susanne Pulimood
Dr Alka Ekbote
Case presentation
(Dermatology)
15 mins
Lunch 12.30 – 15.30
13.30- 14.30   Dr Helen Stewart Retinoblastoma/ Eye Tumours 25 mins Dr Saban Horo
Dr P Sundaresan
Case presentation
(Ophthalmology)
(7+ 3)mins
  Dr P Sundaresan Glioblastoma Gene Therapy 25 mins Dr Deepa  John
Dr Rikki
14.30-15.00   Dr Humphrey Hodgson Hepato-Biliary 
& Pancreatic Cancers
20 mins Dr C E Eapen
Dr Thomas Ram
Case  presentation
(Gastroenterology )
(7+ 3)mins
Coffee Break 15.00-15.20
15.20-15.50 Panel discussion   Future of Cancer Tracking by minimal invasive methods.
Panellists: Dr Nicola Poplawski
Dr Anita Thomas
Dr Patricia
30 mins Moderators: Dr Shirley Hodgson
Dr Abraham P
15.50- 16.00 Dr Shirley Hodgson Concluding Remarks and Wrap up 10 mins


WORKSHOP 2
Current trends in Cardio Vascular Genetics
New Examination Hall
Time Speaker Topic Chairpersons
Welcome note and Introduction: Dr Dhavendra Kumar & Dr Viji Samuel
9.00-9.30  Dr K Thangaraj Genetic Heterogeneity of Cardiovascular diseases in India  
Dr Dhavendra Kumar
Dr Viji Samuel
9.30-10.00 Dr Charu Deshpande Cardiovascular Developmental Disorders Aortic And Arterial Diseases 
Coffee break  10.00-10.30
10.30 -12.30 Cardiac Muscle Diseases- Cardiomyopathy Dr Thangaraj
Dr Tessa Homfray    
Dr SJ Patil   Syndromic hypertrophic Cardiomyopathy 
Dr Viji Samuel Non syndromic HOCM
Dr Anoop G Dilated /Restrictive cardiomyopathy
Mrs Saroja Case presentation -NGS testing in Cardiomyopathy
Lunch   12.30- 13.30
13.30 -14.00 Dr John Roshan Cardiac Conduction And Rhythm Disorders –Inherited arrhythmias case presentation   Dr David Chase
Dr Charu Deshpande
14.00- 14.30 Dr Tessa Homfray NGS diagnostic/ Cascade Testing And Surveillance For Inherited cardiac diseases Prevention  Dr Sunil Chandy
Dr SJ Patil 
14.30 -15.30  Dr Dhavendra Kumar  Sudden Cardiac Death- Issues and Protocols      
Coffee and depart


WORKSHOP 3
Workshop on Genetic Counselling
New Examination Hall
Time Speaker Topic Chair persons
9.00-9.30 Ms Lori Dean  Elements of Psychosocial Counselling as applied in Clinical practice Dr Radha Saraswathy
Dr Smita Rao
9.30-10.00 Dr Antoni Borrell Counselling for pregnancy mishaps: impact of new technologies Dr Shubha Phadke
Dr Lori Dean
10.00-10.30 Dr Shagun Aggarwal NIPT and genetic counselling
(pre- and post-test)
Ms Niby Jacob
Dr Gautham AU
10.30-11.00 Dr Smita Rao Informed Consent and Counselling in Whole Exome Sequencing Dr Annie Hasan
Dr Anju Shukla
Coffee Break 11.00-11.20 mins
Interactive Session-Cases 11.20-12 .30pm
11.20-11.30 SGPGIMS Fetal anomaly on USG Dr Shubha Phadke
Dr Antoni Borrell
Dr Annie Hasan
11.30-11.40 KMC Counseling for cancer Dr Shagun  Agarwal
Dr Smita  Rao
11.40-11.50 NIMHANS Late onset diseases eg. HD Dr Gautham AU
Ms Lori Dean
11.50-12.00 CMC Carrier testing for DMD Dr Sumita Danda
Ms Niby Jacob
Dr Radha Saraswathy
12.00-12.10 NIMS Karyotype abnormality in RSA/Infertility Dr Shagun Agarwal
Dr Shubha Phadke
12.10-12.45 Question Answers
Lunch 12.45-13.30


WORKSHOP 4
CME on Rare Diseases
Introduction and Questionnaire
Time Speaker Topic Chairpersons
14:00 – 14:10 Dr Sony M   Case- Lysosomal Storage Disorder (LSD) Dr Kuldeep Singh
Dr Reena Gulati
Dr Sanjeeva G
14:10 - 14:40 Dr JayeshSheth Laboratory Parameters and approach to LSD
14.40- 14.50   Dr Krati Shah Treating LSD- Experience & Challenges
14:50 – 15.10 Dr Sangeetha Y Case based approach -Homocystinuria Dr Maya Thomas
Dr Radha Rama Devi
15.10 – 15:30 Dr Karthik M Case based approach -Cerebral Creatine deficiency
15:30- 15:40 Mr Prasanna Shirol Parents Perspective - Rare Disease Policy
15.40-16.00 Coffee break
16.00– 16.30 Dr Kausik Mandal Case- Dysmorpholgy.
Working up of a novel dysmorphology syndrome
Dr Kalpana  Gowrishankar
Dr Beena Koshy
16:30 – 17.00   Dr Ruchika Goel Case based approach -Immunodeficiency syndromes   Dr Krati Shah
Dr Debashish Danda