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 / Prof. Dhavendra Kumar
10:00-10:30 Tea/Coffee
10:30-11:30 KEY NOTE LECTURE I:
Global Perspectives of Congenital Malformations 
Prof. 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
Dr. Maya Thomas
Dr. Siddharth Banka
Dr. Prajnya Ranganath
Neuroimaging Phenotypes in Clinical Genetics/Genomics
Dr. Mohnish Suri, Nottingham, UK
Cardiovascular Phenotypes in Clinical Genetics/Genomics
Prof. Dhavendra Kumar, Cardiff, UK
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

Prof. Dian Donnai
Prof. Madhulika Kabra
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. Dhavendra Kumar
Dr. Neerja Gupta
Dr. Ratna Puri
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


Dr Nicola Poplawski
Dr Ashutosh Halder
Dr Ashwin Dalal

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. Shagun Aggarwal
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 
Prof. Dhavendra Kumar, Cardiff, UK

Moderator:
Prof. 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. Ratna Puri
3. Dysmorphology - Dr. Prajnya Ranganath
4. Rasopathy - Dr. Sheetal Sharda
5. Fetal/prenatal - Dr. Shagun Aggarwal
Question Answer 15mins

Dr. Mohnish Suri
Dr. Kuldeep Singh
Dr. Inusha Panigrahi
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 - Prof. Shubha Phadke
2. New Delhi - Dr. Seema Kapur / Dr. Sunita Bijarnia
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: 
Prof. Madhulika Kabra
Prof. Shubha 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
Prof. Eamonn Maher, Cambridge, UK

Dr. Shirley Hodgson
Dr. Abraham Peedicayil
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. Mohnish Suri
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. S J Patil
18:30-19:15 Industry in management of birth defects 
Dr. Ramprasad VL, Mr. Anil Raina, Dr. Jayesh Sheth

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

Day 4
15th December 2018 (Saturday)


Post Conference Workshop
PARALLEL CLINICAL WORKSHOPS: CLINICAL CASES & INTERACTIVE SESSIONS

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
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 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
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