https://www.um.edu.mt/library/oar/handle/123456789/815 2026-11-01T09:05:11Z 2026-11-01T09:05:11Z Giordmaina Powney, Antonella Borg, Joseph J. Debono, Jesmond https://www.um.edu.mt/library/oar/handle/123456789/150634 2026-10-29T14:29:39Z 2023-01-01T00:00:00Z

Title: Determining the genotype of the RH blood group system in Maltese blood donors Authors: Giordmaina Powney, Antonella; Borg, Joseph J.; Debono, Jesmond Abstract: Aims: The Rh blood group system is a complex protein based system having the D, C, c, E and e as the most immunogenic antigens. This blood group system has a vital role in transfusion medicine thus by DNA typing, important medical issues in transfusion practice can be resolved when serological techniques fail. The aim of the study was to determine the frequency of the RH genotype in the Maltese blood donors using molecular techniques.; Methodology: 797 blood donor samples were enrolled in this study. An allele-specific polymerase chain reaction (AS-PCR) method was used to determine the presence of RHD, RHCE*E and RHCE*e, while multiplex PCR was used to test for RHCE*C/c.; Results: Out of 797 samples studied, the most common allele was RHCE*e with a percentage of 98. The most common genotype in RhD positive samples was DCcee and in RhD negative samples, the most common was dccee. The most frequent haplotype was DCe.; Conclusion: Like in previous studies, this research also concludes that the distribution of the RH genotype varies in different geographical areas. Further studies working with larger sample size and better techniques would share better light on the molecular function of these loci.

2023-01-01T00:00:00Z Sciriha, Gabriella Guo Sultana, Janet Borg, Joseph J. https://www.um.edu.mt/library/oar/handle/123456789/150234 2026-10-20T05:11:36Z 2023-01-01T00:00:00Z

Title: Pharmacological treatment for transforming growth factor beta induced corneal dystrophies : what is the way forward? Authors: Sciriha, Gabriella Guo; Sultana, Janet; Borg, Joseph J. Abstract: Transforming growth factor-beta induced (TGFBI) corneal dystrophies (CDs) are a group of autosomal dominant-inherited disorders with distinct phenotypes, which are characterized by bilateral, progressive, non-inflammatory corneal deposits, leading to visual debilitation due to loss of corneal transparency [Citation1]. The TGFBI CDs include Granular corneal dystrophy, type 1 (GCD1) (Figure 1a) and type 2 (GCD2), Lattice corneal dystrophy (LCD) (Figure 1b) (except Type II), Reis–Bücklers corneal dystrophy (RBCD) and Thiel-Behnke corneal dystrophy (TBCD).; Attempts have been made to try and estimate the prevalence of TGFBI CDs, however, being a rare group of conditions, the actual prevalence of many of the CDs is still unknown [2]. Among the population cohorts included in the Phase 3 of the 1000 Genome Project (1000GP); a catalog of common human genetic variation; three TGFBI mutations that are associated with CDs were found to be present [3]. LCD type IIIA NC_000005.9:g.135391459C>A, was found to have a global genetic prevalence of 0.08%, while NC_000005.9:g.135391462A>G, known to cause a Bowman’s layer CD/atypical Thiel-Behnke CD phenotype, has a genetic prevalence of 0.16%. Furthermore, even though epithelial basement membrane dystrophy (EBMD) is not classified under the subgroup of ‘Epithelial–stromal TGFBI dystrophies,’ a subset of these patients have been reported to have mutations in the TGFBI gene [4]. In the 1000GP cohort, the genetic prevalence of EBMD NC_000005.9: g.135398363 G > C is 0.16% globally. [excerpt]

2023-01-01T00:00:00Z Tierney, Braden T. Kim, JangKeun Overbey, Eliah G. Ryon, Krista A. Foox, Jonathan Sierra, Maria A. Bhattacharya, Chandrima Damle, Namita Najjar, Deena Park, Jiwoon Garcia Medina, J. Sebastian Houerbi, Nadia Meydan, Cem Wain Hirschberg, Jeremy Qiu, Jake Kleinman, Ashley S. Al-Ghalith, Gabriel A. MacKay, Matthew Afshin, Evan E. Dhir, Raja Borg, Joseph J. Gatt, Christine Brereton, Nicholas Readhead, Benjamin P. Beyaz, Semir Venkateswaran, Kasthuri J. Wiseman, Kelly Moreno, Juan Boddicker, Andrew M. Zhao, Junhua Lajoie, Bryan R. Scott, Ryan T. Altomare, Andrew Kruglyak, Semyon Levy, Shawn Church, George M. Mason, Christopher E. https://www.um.edu.mt/library/oar/handle/123456789/150089 2026-10-15T13:19:56Z 2024-01-01T00:00:00Z

Title: Longitudinal multi-omics analysis of host microbiome architecture and immune responses during short-term spaceflight Authors: Tierney, Braden T.; Kim, JangKeun; Overbey, Eliah G.; Ryon, Krista A.; Foox, Jonathan; Sierra, Maria A.; Bhattacharya, Chandrima; Damle, Namita; Najjar, Deena; Park, Jiwoon; Garcia Medina, J. Sebastian; Houerbi, Nadia; Meydan, Cem; Wain Hirschberg, Jeremy; Qiu, Jake; Kleinman, Ashley S.; Al-Ghalith, Gabriel A.; MacKay, Matthew; Afshin, Evan E.; Dhir, Raja; Borg, Joseph J.; Gatt, Christine; Brereton, Nicholas; Readhead, Benjamin P.; Beyaz, Semir; Venkateswaran, Kasthuri J.; Wiseman, Kelly; Moreno, Juan; Boddicker, Andrew M.; Zhao, Junhua; Lajoie, Bryan R.; Scott, Ryan T.; Altomare, Andrew; Kruglyak, Semyon; Levy, Shawn; Church, George M.; Mason, Christopher E. Abstract: Maintenance of astronaut health during spaceflight will require monitoring and potentially modulating their microbiomes. However, documenting microbial shifts during spaceflight has been difficult due to mission constraints that lead to limited sampling and profiling. Here we executed a six-month longitudinal study to quantify the high-resolution human microbiome response to three days in orbit for four individuals. Using paired metagenomics and metatranscriptomics alongside single-nuclei immune cell profiling, we characterized time-dependent, multikingdom microbiome changes across 750 samples and 10 body sites before, during and after spaceflight at eight timepoints. We found that most alterations were transient across body sites; for example, viruses increased in skin sites mostly during flight. However, longer-term shifts were observed in the oral microbiome, including increased plaque-associated bacteria (for example, Fusobacteriota), which correlated with immune cell gene expression. Further, microbial genes associated with phage activity, toxin– antitoxin systems and stress response were enriched across multiple body sites. In total, this study reveals in-depth characterization of microbiome and immune response shifts experienced by astronauts during short-term spaceflight and the associated changes to the living environment, which can help guide future missions, spacecraft design and space habitat planning.

2024-01-01T00:00:00Z Manzano, Aránzazu Weging, Silvio Bezdan, Daniela Borg, Joseph J. Cahill, Thomas Carnero-Diaz, Eugénie Cope, Henry Deane, Colleen S. Etheridge, Timothy Giacomello, Stefania Hardiman, Gary Leys, Natalie Madrigal, Pedro Mastroleo, Felice Medina, F. Javier Mieczkowski, Jakub Fernandez-Rojo, Manuel A. Siew, Keith Szewczyk, Nathaniel J. Walsh, Stephen B. da Silveira, Willian A. Herranz, Raúl https://www.um.edu.mt/library/oar/handle/123456789/149985 2026-10-14T06:08:35Z 2023-01-01T00:00:00Z

Title: Enhancing European capabilities for application of multi-omics studies in biology and biomedicine space research Authors: Manzano, Aránzazu; Weging, Silvio; Bezdan, Daniela; Borg, Joseph J.; Cahill, Thomas; Carnero-Diaz, Eugénie; Cope, Henry; Deane, Colleen S.; Etheridge, Timothy; Giacomello, Stefania; Hardiman, Gary; Leys, Natalie; Madrigal, Pedro; Mastroleo, Felice; Medina, F. Javier; Mieczkowski, Jakub; Fernandez-Rojo, Manuel A.; Siew, Keith; Szewczyk, Nathaniel J.; Walsh, Stephen B.; da Silveira, Willian A.; Herranz, Raúl Abstract: Following on from the NASA twins’ study, there has been a tremendous interest in the use of omics techniques in spaceflight. Individual space agencies, NASA’s GeneLab, JAXA’s ibSLS, and the ESA-funded Space Omics Topical Team and the International Standards for Space Omics Processing (ISSOP) groups have established several initiatives to support this growth. Here, we present recommendations from the Space Omics Topical Team to promote standard application of space omics in Europe. We focus on four main themes: i) continued participation in and coordination with international omics endeavors, ii) strengthening of the European space omics infrastructure including workforce and facilities, iii) capitalizing on the emerging opportunities in the commercial space sector, and iv) capitalizing on the emerging opportunities in human subjects research.

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