Considering the pressing need for interdisciplinary awareness and collaboration in researching, diagnosing, treating, and advocating for rare genetic diseases—which affect 25 million patients in the MENA region alone, including 300,000 in Lebanon—the Department of Human Genetics at the LAU Gilbert and Rose-Marie Chagoury School of Medicine hosted its third edition of the LAU Rare Disease Day, bringing together national and international academicians, researchers, and patient organizations to exchange insights and advancements in the field.

This international event observed worldwide on the last day of February kicked off with a live concert on March 6 and a full-day conference on March 8 at the LAU Beirut campus.

“Rare diseases statistically may be uncommon, but their impact extends far beyond those diagnosed to their families, caregivers, the medical community, and the global community,” said Associate Dean for Faculty Affairs and Development at the LAU school of medicine Vanda Abi Raad in her opening speech.

“While medical advancement is vital so too are compassion, support and advocacy that empower families and patients,” she added.

At the conference, SESOBEL, a long-time partner of the department, represented by its President and CEO Fadia Safi, announced the launch of the Neuromuscular Challenge Foundation. Co-founders Louis Zeeny and Claire Abou Karam, both living with Neuromuscular Disorders (NMD), then took the stage to introduce the foundation, which is dedicated to supporting patients with the disease.

Following this announcement, the conference was led by associate professors Dr. Cybel Mehawej and Dr. Eliane Chouery from the Department of Human Genetics at the LAU Gilbert and Rose-Marie Chagoury School of Medicine. They gave an overview of their groundbreaking findings, which included linking the POLD3 gene variant to progressive hearing loss and balance impairment in adults, as well as discovering the SH3GL1 gene involved in primary immunodeficiency diseases. These achievements, made throughout last year, have positioned the department at the forefront of genetics for the Lebanese community.

Dr. Chouery discussed the department’s latest diagnostic strategies, pointing out the significant cost reductions, shorter turnaround times, and free reanalysis of patients’ exomes, the protein-coding parts of DNA.

Diagnosis is followed up with patient care and support, she said. “We don’t just provide information on pathogenic variants; we also offer insights into a patient’s carrier status for other mutations, which can be crucial for their family.” To help patients manage their condition, she added, “we offer both pre- and post-result genetic counseling, helping families understand potential diseases that might be present in their lineage or community.”

To address the lack of a national genetic database, a resource now available in most Gulf countries, Dr. Eileen Marie Hanna, assistant professor of computer science at the LAU School of Arts and Sciences, spoke about her latest project in collaboration with the LAU genetics team, aimed at visualizing disease patterns in Lebanon.

“This in-house tool will streamline the workflow needed to process the large amounts of data in patients’ files, including gene information, diseases, and their variants, much like a network,” explained Dr. Hanna. “Our use of machine learning approaches will eventually help visualize disease distribution across Lebanon.”

Assistant Dean for Research and Chair of the LAU Human Genetics Department Andre Megarbane offered an original and fascinating look at genetic diseases as portrayed in comic books. He highlighted beloved characters like Tintin, Bécassine, and the Daltons, revealing how these comics depict genetic features associated with conditions such as chromosomal syndromes, intellectual disabilities, and dysmorphological cases.

Among the speakers was Dr. Andoni Urtizberea from the Institut de Myologie, Paris, France, who traced the evolution of NMD across the MENA region from the 1980s to the present and the shift in diagnostic and therapeutic perspectives, driven by a significant change in mindset among stakeholders.

“Trial readiness, access to cutting-edge therapies, patient registries, and expert centers for NMD represent major challenges for the future,” said Dr. Urtizberea.

Drs. Valerie Delague and Isabelle Desguerre from the Aix-Marseille University and the Necker–Enfants malades Hospital in France, presented on a new gene in Charcot-Marie-Tooth disease—another NMD that leads to a gradual loss of sensory capacities—and epilepsy in pediatrics and rare diseases.

Two days before the event, Drs. Urtizberea, Desguerre, and Delague met with Lebanese patients and provided them with genetic counseling.

“I have been working on Lebanese gene samples for a long time, but it’s always a pleasure for me to meet the patients in person,” said Dr. Delague. “You see them as people, not just numbers.”

Visiting Lebanon, she added, was a distinct opportunity. “Coming to Lebanon is a huge chance to identify new genes, new mechanisms, and new treatments. Because these conditions are so rare, you first identify a process, and then you come back to find common genetic factors that will be important for Western countries as well,” she said

The conference also saw diverse attendance and participation from interdisciplinary professionals, both national and international. Speakers included Dr. Nady El Hajj, associate professor of biology at Hamad bin Khalifa University in Qatar; Dr. Said El Shamieh, associate professor of human genetics at Beirut Arab University, Lebanon; Dr. Abeer J. Hani, clinical assistant professor and program director of pediatrics residency at the LAU school of medicine; and Dr. Hicham Mansour, professor of pediatrics at the Saint George University Hospital.

In their concluding remarks, Dr. Megarbane and Dr. Urtizberea encouraged young physicians to engage in rare disease research, which they said is rewarding on a professional and personal level.

“The human genome contains around 20,000 genes, yet we only understand the function of about 5,000,” said Dr. Megarbane. “Imagine how much more we still need to learn as researchers and physicians to fully understand how genes work.”