The 58th edition of the European Society of Human Genetics (ESHG) conference took place in Milan, Italy, from 24 to 27 May. Local research being conducted at the University of Malta was presented at the conference in the form of two poster presentations showcasing ongoing work on Idiopathic Hypogonadotropic Hypogonadism (IHH) and Diabetic Retinopathy. These highlight two important studies from the Department of Applied Biomedical Science, Faculty of Health Sciences, underscoring the impactful work being conducted on a local level.
A study of the genetic causes of infertility due to IHH in Malta
IHH is a rare genetic disorder characterised by delayed or absent puberty due to impaired hormone signalling. Mr Clayton John Axiak and Prof. Rosienne Farrugia, together with co-authors from the UM (Ms Francesca Borg Carbott, Dr Ritienne Attard, Dr Karen Cassar, Prof. Mark Gruppetta, Prof. Josanne Vassallo and Prof. Stephanie Bezzina Wettinger) described the underlying genetic causes in a group of 17 cases with IHH. The findings of this study highlight the genetic complexity and heterogeneity of this condition, including the identification of novel variants giving rise to IHH. Infertility due to IHH is treatable and therefore studies of the genetic causes of this disease contribute towards a better understanding of the diseases and, eventually, more timely diagnostics and treatment.
Differential expression in human lens epithelial cells in different stages of Diabetic Retinopathy
Dr Muhaiyo Bartolo presented her work on RNA expression differences in lens epithelial cells collected during cataract surgery from cases with different stages of diabetic retinopathy. This work sheds light on the changes that occur in the lens as the disease progresses from the mildest to the most severe presentations of diabetic retinopathy. The interdisciplinary research team includes Prof. Rosienne Farrugia from the Department of Applied Biomedical Science, Prof. Jean Paul Ebejer from the Centre of Molecular Medicine and Biobanking and Mr Franco Mercieca from the Department of Surgery, Faculty of Medicine and Surgery.
The IHH study received funding from the Malta NGS project (R&I-2012-024) financed by the Malta Council for Science and Technology and The Genomics of Rare Diseases project (I21LU04), a University of Malta Research Excellence Grant. Mr Axiak and Dr Bartolo PhD studies are supported by two TESS Scholarship grants (MEDE 281/2020/7 and MEDE 281/2020/10 respectively) and their attendance at this conference was partly funded through an RIDT overseas conference grant for doctoral researchers. Mr Axiak was also the recipient of an ESHG fellowship.
For further information about genomic studies of rare diseases, please contact Prof. Rosienne Farrugia.
