OpenWetWare:Highlights/labhighlights/Joseph Lab

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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
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