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About the Project

The global prevalence of heterozygous familial hypercholestrolemia (FH)is estimated to be 1 in 250 with considerable regional differences .Identification of autosomal dominantly inherited FH presents an opportunity cascade screening and coronary artery disease prevention .Our observational cross sectional study aims to determine the genetic profile of patients who are clinically diagnosed to have familial hypercholestrolemia based on Dutch criteria.

We aim to do genetic studies in 225 patients who are clinically diagnosed to have FH. In the first set of 50 samples analysed 20-25% were found to have either monogenic variants or high polygenic score.

Department & Campus

Centre for Endocrinology and Diabetes, Health Sciences Campus, Kochi

Skillsets Preferred from Applicants

Basic statistical knowledge, hands on skill with genetic sequencing, bioinformatics of polygenic genetic score

Faculty Profile

Genetics of Familial Hypercholestrolemia – Doctoral Research Topic
Dr. Praveen V. P.

Department of Endocrinology &
Centre for Diabetes and Endocrinology
School of Medicine, Kochi.

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How to Apply

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