Advancing Drug Repurposing for Rare Diseases

Laboratory Study & Workshop

Rare genetic diseases affect millions of people worldwide, yet effective treatments remain extremely limited. Of approximately 7000 identified rare diseases, only 5% have approved therapies. High costs, small patient populations, and limited research investment continue to hinder traditional drug development, leaving many patients without timely access to life-saving interventions.
To address these challenges, AGYA Alumna Prof. Dr. Lilia Romdhane and AGYA Alumnus Prof. Dr. Mohammad Adm leveraged computational and bioinformatic approaches to accelerate drug discovery for rare genetic diseases. The project builds on the foundation of their joint implemented project in 2024, and focuses on drug repurposing, using existing approved drugs applied to new therapeutic contexts, guided by transcriptomic and multi-omics data analysis.

Workshop on In Silico Drug Design and Repurposing

A major milestone was the two-day workshop held at the Institut Pasteur de Tunis, bringing together experts from bioinformatics, clinical medicine, bioengineering, and pharmacy. The sessions focused on multiscale modeling, docking, and post-docking analysis. 
The first day was led by Prof. Dr. Joseph Rebehmed from the Lebanese American University in Lebanon, who introduced participants to docking and structural bioinformatics through lectures and hands-on exercises, focusing on protein–ligand interactions. The second day, led by Dr. Houcemeddine Othman from the Department of Genetics at Farhat Hached University Hospital in Sousse, Tunisia, addressed common misconceptions in multiscale modeling and docking analysis, combining theoretical insights with practical applications.

“As a bioinformatician working in genomic data analysis, I found the workshop extremely valuable for expanding my computational toolkit and applying it to therapeutic research in rare diseases. Overall, this workshop showcased AGYA’s important role in fostering Arab–German scientific collaboration and equipping early-career researchers with practical, high-impact skills.” Hayfa Bououd, Bioinformatics Engineer, IPTOmics Technology Platform, Pasteur Institute of Tunis, Tunisia

The workshop was highly interactive, with participants actively engaging in lectures, exercises, and discussions. Attendees, coming from diverse backgrounds in bioinformatics, clinical medicine, bioengineering, and pharmacy, found the sessions insightful and expressed interest in a future edition.

AGYA forges new institutional partnerships

During the visit, a high-ranking delegation from Palestine Polytechnic University participated in discussions that resulted in further collaboration agreements. These partnerships strengthened Arab–Arab and Arab–German scientific networks and opened new opportunities for research in genomics, bioinformatics, and drug discovery. 
The delegation held meetings with the President and Vice Presidents of the University of Tunis El Manar, several deans and research center directors, and the Ambassador of Palestine to Tunisia. These discussions culminated in the signing of a Memorandum of Understanding between Palestine Polytechnic University and the University of Tunis El Manar, establishing a framework for long-term collaboration in research, training, and academic exchange.

Interdisciplinary teamwork

The success of the project is rooted in the dedicated work of an interdisciplinary research team with expertise in genetics, bioinformatics, computational analysis, and molecular biology. Dr. Nessrine Mezzi, a geneticist at the Institut Pasteur de Tunis with strong skills in biochemistry and bioinformatics, lead the in silico molecular validation and molecular docking of candidate drug compounds. Ms. Imen Abdallah, a PhD student in genetics, curated data on existing drugs for rare genetic diseases from scientific literature and public databases, while Ms. Amal Guesmi, a Master’s student with a computational background, analyzed transcriptomic datasets and develops the preliminary drug repurposing pipeline. Complementing these efforts, Dr. Fawzi Al-Razem, a molecular biologist and biochemist with extensive experience in genetic disease research, collaborated on molecular docking studies and assists in validating the most promising drug candidates computationally. Together, this team ensures that computational, experimental, and analytical approaches are fully integrated to accelerate drug discovery for rare diseases and strengthen regional research capacities.

Developing a bioinformatic platform for drug repurposing

A central outcome of the project is the development of a computational platform for drug repurposing in rare genetic diseases, which is currently under construction. The platform integrates transcriptomic and multi-omics data with artificial intelligence–driven analysis to identify approved drugs that could reverse disease-specific molecular signatures. A preliminary version of the platform has already identified several candidate molecules for a subtype of limb-girdle muscular dystrophy, LGMD-R12. 
Further work, including molecular docking, validation, and data security implementation, is underway before the platform is publicly released. Researchers and clinicians will be able to upload gene expression data and receive ranked lists of potential repurposable drugs.