Publications by authors named "C Charfeddine"
Article Synopsis
- 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.
Article Synopsis
- Autosomal recessive congenital ichthyosis (ARCI) is a rare skin condition primarily characterized by skin scaling and hair abnormalities, which are often overlooked regarding their impact on patients' quality of life.
- This study involved clinical and trichoscopic examinations of 30 ARCI patients over three years, revealing that alopecia affects a significant number, with various patterns of hair loss documented among participants.
- Notable trichoscopic findings included scaling and different hair types that correlate with the severity of ARCI, suggesting that hair health is a crucial component of this condition often underestimated in prior research.
Article Synopsis
- * A 14-year study analyzed over 700 patients with syndromic deafness (SD) in Tunisia, using advanced genetic sequencing techniques to identify various genetic conditions, including Usher syndrome and H syndrome.
- * The research highlights challenges in distinguishing between non-syndromic and syndromic HI and reveals that nearly 50% of Tunisian SD cases relate to rare inherited metabolic disorders, providing valuable insights for improving molecular diagnoses in Tunisia and North Africa.