Publications by authors named "M Gribaa"
Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by extreme skin fragility and blistering. In North African countries, including Tunisia, complex genetic and phenotypic diversity is entangled with a scarcity of scientific research on EB. This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care.
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- The Genome Tunisia Project is a two-phase initiative (2022-2035) aimed at sequencing the Tunisian Genome and advancing personalized medicine in Tunisia, a diverse North African country affected by human migration patterns from various continents.
- A multidisciplinary team of Tunisian experts is focused on addressing key priorities, such as determining the reference genome sequence, enhancing education and awareness, and improving infrastructure for personalized medicine integration.
- The project involves collaboration among various stakeholders, including healthcare providers and policymakers, and aims to boost research and innovation in genomics while improving healthcare practices in the region.
As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for improving healthcare outcomes. Tunisia has made tremendous progress in acquiring and implementing the technology in the clinical context. However, current utilization does not ensure the whole range of benefits that high-throughput genomic testing provides which impedes the country's ability to move forward into the new era of precision medicine.
View Article and Find Full Text PDFLynch syndrome is caused by inactivating variants in DNA mismatch repair genes, namely MLH1, MSH2, MSH6 and PMS2. We have investigated five MLH1 and one MSH2 variants that we have identified in Turkish and Tunisian colorectal cancer patients. These variants comprised two small deletions causing frameshifts resulting in premature stops which could be classified pathogenic (MLH1 p.
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- Angelman syndrome (AS) is linked to genetic issues on chromosome 15, but the exact genetic causes are not fully understood for some patients.
- The study aimed to explore the role of a specific gene in AS and use exome sequencing to identify new potential genes involved in the syndrome.
- Researchers found seven variants, including three novel ones, and identified 22 genes that may relate to AS-like conditions, suggesting new paths for genetic counseling and diagnosis confirmation.