Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …

Background. Numerous studies have shown that baseline drug resistance patterns may
influence the outcome of antiretroviral therapy. Therefore, guidelines recommend drug …

Objectives The objective of this study was to define the natural genotypic variation of the HIV-1
integrase gene across Europe for epidemiological surveillance of integrase strand-…

The molecular epidemiology of HIV-1 infection was first studied in Cyprus in the mid-1990s,
but the extent of HIV-1 diversity and the prevalence of drug resistance have remained elusive…

Haemoglobinopathies are the most common monogenic diseases, posing a major public
health challenge worldwide. Cyprus has one the highest prevalences of thalassaemia in the …

Glial gap junction proteins, called connexins (Cxs), form gap junctions in the central nervous
system (CNS) to allow the bidirectional cytosolic exchange of molecules between adjacent …

Both mild and severe epilepsies are influenced by variants in the same genes, yet an
explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 …

Background Central precocious puberty (CPP) due to premature activation of GnRH secretion
results in early epiphyseal fusion and to a significant compromise in the achieved final …

According to the amyloid hypothesis of Alzheimer’s disease (AD) the deposition of prefibrillar
and fibrillar Aβ peptide sets off the pathogenic cascades of neuroinflammation and …

Background B-thalassaemia and sickle cell disease (SCD) are two of the most common
monogenic diseases that are found in many populations worldwide. In both disorders the clinical …