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Biospecimen & DNA Core

​Background

The Biospecimen & DNA core is a major resource of biospecimens, collected from consented patients with cardiovascular diseases and local volunteers to support cardiovascular translational research. It works with a team of dedicated clinical research coordinators to recruit and consent NHCS patients at cardiology outpatient clinic or ward.

The core is equipped with facilities for collection, processing and storage of human samples including blood, serum and DNA that are linked to clinical records by a tailor-made database. There are more than 2,300 participants in the biobank and over 23,000 aliquots have been anonymized, barcoded and stored for years using sample management system in scientific deep freezers. This facility is improving the efficiency of cardiovascular research by saving time in patient recruitment, standardizing sample processing and maintaining high quality biospecimens at a transparent and accessible facility. Internal and external researchers who are interested in accessing the samples will be required to submit an application to the scientific lead of the facility and reviewed by the biobank committees for approval.

Research Area

Seven research projects have been approved to access biospecimens and imaging data stored in biobank.

Recently, a new genetic test covering all known genes for ICC was developed by NHRIS genetics researchers using the donated blood from biobank. The study, published in Journal of Cardiovascular Translational Research shown that the new test (Illumina TruSight Cardio kit) has up to 100% accuracy, faster and cheaper which is a valuable test for use in both genetics diagnostics and research. Patients and family members with high risk of developing ICC can be identified by a single test to receive early treatment and prevent sudden cardiac death.

NHRIS researchers are working with the newly created genetic test and the donated DNA from biobank patients and volunteer to understand the genes contributing to inherited cardiac conditions (ICCs) in Singapore population. A large number of biospecimen stored in biobank enables researchers to classify which DNA changes in gene are causing the abnormal functionality and structure of heart. Common DNA changes in local population that are unlikely to be disease-causing are identified by screening healthy participants.

Diagnoses

Number of Biobank Participants

Volunteer control (VCON)

1264

Ischemic heart disease with normal ejection fraction (IHD normal EF)

209

Ischemic heart disease with reduced ejection fraction (IHD reduced EF)

199

Dilated cardiomyopathy (DCM)

197

Hypertrophic cardiomyopathy (HCM)

139

Others

106

Hypertension

100

Congenital heart disease

42

Acute coronary syndrome (ACS)

37

Mitral valve disease

20

Atrial fibrillation (AF)

15

Brugada syndrome (BrS)

11

Left ventricular non-compaction (LVNC)

6

Long QT syndrome (LQTS)

6

Aortic disease

5

Aortic stenosis (AS)

3

Nothing abnormal detected (NAD)

3

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

1

Myocarditis

1

Pulmonary hypertension

1


Achievements

Publications 

  1. Pua, C.J. et al. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. Journal of Cardiovascular Translational Research. 9(1):3-11 (2016)