GH2M Human Genome and Multifactorial Diseases Laboratory

    

The Human Genome and Multifactorial Diseases Laboratory (LR12ES07) at the Faculty of Pharmacy of Monastir conducts cutting-edge research in the genetics of complex diseases. Under the leadership of Dr. Nabil MTIRAOUI and Dr. Intissar EZZIDI, the team's work focuses on familial thrombophilia in recurrent miscarriages, as well as the common genetic predisposition to type 2 diabetes and polycystic ovary syndrome in both the Tunisian and Saudi populations.

Dr. Amel Haj Khelil's team, on the other hand, explores constitutional genetics, with a focus on human health (analysis of monogenic and multifactorial diseases, pharmacogenetics) and forensic science. Using advanced techniques such as genotyping and DNA sequencing, their research provides insights into early diagnosis, genetic counseling, and the development of targeted treatments.

Meanwhile, the research team led by Dr. Latifa CHKIOUA on rare diseases, including lysosomal and mitochondrial disorders, contributes to a better understanding of the genetic variations responsible for these conditions. Through in silico prediction of the functional impact of these variations on the relevant proteins, this approach enables more accurate diagnosis, genetic counseling, and prenatal diagnosis (PND). It also opens the door to new therapeutic strategies, particularly for mucopolysaccharidoses.

Dr. Hassen BEN ABDENNEBI's team stands out for its expertise in in vivo models (renal transplantation, hepatic and renal ischemia, hepatectomy, liver regeneration, hepatic steatosis) and ex vivo model (isolated and perfused liver). Their research on natural substances contributes to the development of innovative therapies for conditions related to cold and warm ischemia-reperfusion. Our work has helped clarify the mechanisms of action of substances such as oleuropein, fucoidan, melatonin, and others by studying intracellular signaling pathways. Additionally, we are examining the impact of microplastics associated with ischemia-reperfusion on the liver and kidneys.

•  Axis 1: Identification of molecular defects in rare diseases (monogenic and mitochondrial) and therapeutic approaches
•  Axis 2: Investigation of molecular markers predisposing to multifactorial diseases
  • Axis 2.1: Genetic approach to endocrine, obstetric and cardiovascular diseases in Tunisia
  • Axis 2.2: Bruxism: association between genetic polymorphisms in the DRD3 and HTR2A genes
  • Axis 2.3: Rheumatoid arthritis: search for an association between the MUC5B gene polymorphism rs35705950 and interstitial pneumonia
  • Axis 2.4: Alzheimer’s disease: Identification of molecular markers involved in diagnosis and treatment
•   Axis 3: Analysis of molecular markers related to/ associated with susceptibility to HIV infection and resistance to treatment

• Axe 1.: Physiopathology of ischemia-reperfusion syndrome and liver regeneration
• Axe 2.: Study of the anti-inflammatory and pro-inflammatory effects of exopolysaccharides from Lactobacillus in a murine model