OpenWetWare:Highlights/labhighlights/Joseph Lab

Laboratory of Molecular Genetics Department of Pathology on Campus University of Malta

Tel: +(356) 23402774 Fax: +(356) 21343535

Welcome to the Laboratory of Molecular Genetics

We are a team of molecular biologists, biochemists, geneticists and biotechnologists engaged in research and development on human genetics and molecular biotechnology. We provide molecular diagnostic services for the Malta department of Health and other clients for the following hereditary conditions;

Thalassaemia and other haemoglobinopathies Cystic Fibrosis Gangliosidosis Coagulopathies. others will be added in due course.

Between 1997 and 2000 we have been funded through the financial protocol between the Governments of Malta and Italy to develop a national biotechnology programme based in the University of Malta. Our laboratory has participared in numerous EU funded projects and is currently involved in compilation of a proposal for FP7 call for applications on Globin Gene Expression and Control Mechanisms

Current research areas of interest

Human genetics

Molecular Diagnostic Genetics and Molecular Genetic Epidemiology

Analysis of gene defects with advanced molecular biology techniques in patients with a variety of disorders have revealed numerous new and known mutations in DNA. The data will serve to provide diagnostic services, prevention among couples at risk, contribute to an understanding of gene control mechanisms and movements of populations.

Major Single Gene Disorders

Haemoglobinopathies in the Maltese Population

Beta-thalassaemia is common in the Mediterranean region. Therefore it is not surprising that 1.8% of the Maltese population have Beta-thalassaemia. On the other hand alpha-thalassaemia is rare in the Maltese population. Generally a population has a handful of specific thalassaemia mutations. The beta-thalassaemia mutations found in the Maltese have been characterised. Besides, 2% of the Maltese have a benign G gamma globin variant: 1.8% have Hb F Malta I, which is linked to Hb Valletta and 0.2% have an alpha-globin variant. Hb St Luke’s and Hb Setif are the two alpha-globin variants that have been found in the Maltese.

Genetic epidemiology of diseases in the Maltese population

Gene/Disease Mutation Abnormal Haemoglobins Hb F Malta I linked to Hb Valletta Hb Setif Hb St Luke’s Thalassaemia b+IVS-I, 6C b+IVS-II, 1A b+IVS-I, 110A b0Codon 39T G6PD Med (563T) A-(376G, 680T) Metaponto (172A) Malta (188G) Coagulation F7                                         10% Wildtype Framework I                             Malta I (Ala 244 Val) Malta II (Pro 134 Thr) Factor V                                               Leiden Factor II                                              20210G -> A CFTR Delta F508 G542X E831X Gangliosidosis Spl 7 PKU: DHPR G23D SN Deafness: Connexin 26 35delG Infections IFNg R1                                     AC395