17 July 2013

9.00 am to 11.00 am

Auditorium, PGIM, Colombo

Pre-congress Symposium on “Medical Genetic Services in Sri Lanka – How and Where to Access Them”

Chairpersons:

Prof. Rohan W Jayasekara MBBS, PhD, C. Biol, MSB (Lond)

Director, Human Genetics Unit and Dean, Faculty of Medicine, University of Colombo

and

Dr. Nirmala Sirisena

Lecturer, Human Genetics Unit, Faculty of Medicine, University of Colombo

 

9.00 am

Overview of Genetic Diagnostics

Prof. Vajira H. W. Dissanayake MBBS, PhD

Professor, Human Genetics Unit, Faculty of Medicine, University of Colombo

 

9.45 am

Neurogenetics

Dr. Dulika Sumathipala MBBS, MSc (Clinical Genetics)

Lecturer, Human Genetics Unit, Faculty of Medicine, University of Colombo

 

10.05 am

Genetic Services in a Women’s Hospital

Dr. Padmapani Padeniya MBBS, MSc (Clinical Genetics)

Medical Officer, De Soysa Hospital for Women, Colombo

 

10.25 am

Genetic Services in a Cardiology Clinic

Dr. Subashi Karunarathne MBBS, MSc (Clinical Genetics)

Medical Officer, Cardiology Unit, Lady Ridgeway Hospital for Children

 

10.45 am

Discussion

 

11.00 am

Close and Tea Break

 

ABSTRACTS

Overview of Genetic Diagnostics
Prof. Vajira H. W. Dissanayake MBBS, PhD
Professor, Human Genetics Unit, Faculty of Medicine, University of Colombo
vajirahwd@hotmail.com
Our understanding of the aetiology of many rare as well as common disorders have been incomplete due to limitations in technologies that would have enabled us to understand the contributory pathophysiological mechanisms at molecular level. That scenario is fast changing with the introduction of next generation technologies. Today we are able perform whole genome and exome analysis, as well as targeted sequencing of genes at a fraction of the cost and time 10 years ago thus making it possible for us to deliver personalized medical care to our patients. In this talk I would illustrate these technologies with examples from our own experience as well as from the rapidly expanding body of scientific literature while surveying the entire range of genetic diagnostics at our disposal ranging from cytogenetics to molecular genetics to molecular cytogenetics as well as the next generation technologies.
Neurogenetics
Dr. Dulika Sumathipala MBBS, MSc (Clinical Genetics)
Lecturer, Human Genetics Unit, Faculty of Medicine, University of Colombo
dulikasanjeewani@gmail.com
Genetics play a central role in caring for patients with inherited neurological conditions. The first clinical genetics service for such patient was set up at the Institute of Neurology at the National Hospital of Sri Lanka in 2004 and has been in operation in collaboration with the Human Genetics Unit of the Faculty of Medicine, Univesity of Colombo. In this presentation I will review the spectrum of conditions seen in this clinic (including Huntington Disease, Duchenne Muscular Dystrophy, and Spinocerebellar Ataxia to name a few) and illustrate how we have been able to help children, their families, as well the clinicians looking after them.
Genetic Services in a Womens Hospital
Dr. Padmapani Padeniya MBBS, MSc (Clinical Genetics)
Medical Officer, De Soysa Hospital for Women, Colombo
padmapanip@gmail.com
Genetics is playing a central role in provision of obstetrics and gynaecology care. The first clinical genetics service was set up at the De Soysa Hospital for Women in 2012. In this presentation I will review the spectrum of conditions seen in the clinic (including Recurrent miscarriages, Primary amenorrhoea, Prenatal detection of congenital abnormalities, Syndromic babies and subfertility to name a few) and illustrate how we have been able to help women as well the clinicians looking after them.
Genetic Services in a Cardiology Clinic
Dr. Subhashi Karunarathne MBBS, MSc (Clinical Genetics)
Medical Officer, Cardiology Unit, Lady Ridgeway Hospital for Children, Colombo.
subhashi@subhashi.com
Genetics play a central role in provision of cardiology care. In addition many children with congenetical defects have cardiac involvement. The first clinical genetics service in a cardiology clinic was set up at the Lady Ridgeway Hospital for Children in 2012. In this presentation I will review the spectrum of conditions seen in this clinic (including Down Syndrome, Edward Syndrome, Turner Syndrome, DiGeorge Syndrome, William Syndrome, Noonan Syndrome and Marfan Syndrome to name a few) and illustrate how we have been able to help children, their families, as well the clinicians looking after them.