Dr Tawfeg Ben-Omran, Division Chief of Genetic and Genomic Medicine at Sidra Medicine, discusses Qatar's pioneering advancements in rare disease treatment. He explains how whole genome sequencing and expanded newborn screening drastically reduce diagnostic delays and how breakthrough gene therapies are transforming previously fatal paediatric genetic disorders into proactively treatable conditions across the region.
What makes Sidra Medicine unique for rare disease and genomic medicine on a global scale?
Sidra Medicine is a tertiary – and even quaternary – hospital specializing in paediatrics and women’s health. What makes us unique is that we also have a research facility which clinicians to access advanced technologies, data-driven insights, and emerging therapies that inform clinical decision-making. This is what allows us to offer precision medicine solutions for our patients, particularly those with rare and genetic diseases.
In terms of paediatrics, Sidra Medicine encompasses all sub-specialties, including our genetic and genomic division, as well as paediatric surgery. We possess highly specialised expertise; for instance, we house a comprehensive cardiac centre, advanced metabolic genetic programmes, and established capabilities in stem cell and bone marrow transplantation. We also feature an outstanding pulmonary division.
Through close collaboration between researchers, clinicians, and care teams across the organisation, scientific discoveries are continuously translated into knowledge, tools, and approaches that support better diagnosis, treatment, and long-term outcomes for patients.
How does the Division of Genetic and Genomic Medicine you initiated fit in to the broader Qatari health system?
Our division serves as the primary referral centre covering the entire country for paediatric patients under 18 years of age. We provide a comprehensive service spanning diagnosis, treatment, ongoing follow-up, and genetic counselling. Furthermore, we manage all positive cases originating from Qatar’s National Newborn Screening programme, which was established in 2003 and has now been running successfully for over 22 years.
When evaluating genetic and inherited metabolic disorders, our service is unique for several reasons. Primarily, rare diseases are arguably not so “rare” anymore. This shift is driven entirely by improvements in diagnostics. Previously, we considered these conditions rare simply because we lacked the technological means to identify them. Today, through automated screening programmes – where we are diagnosing seemingly healthy babies – and our progression towards genomic newborn screening, we are transitioning rare diseases into the realm of more commonly identified conditions. To put this in perspective, in 2026, we are consistently diagnosing around eight to 10 patients every week, this volume was unimaginable 15 years ago. The patients were always there in front of us, but due to limited genetic and genomic diagnostic tools, they went undiagnosed.
You mentioned the genomic newborn screening programme; what other strategies is Sidra Medicine implementing to reduce this diagnostic delay?
The traditional diagnostic odyssey is a severe burden. However, progress is occurring rapidly across several levels. If we reflect on the early 2000s, sequencing a human genome cost billions. Today, we are conducting whole genome diagnostics for less than a thousand dollars.
This radical cost reduction is unprecedented. Here at Sidra Medicine, we now utilise whole genome sequencing as a first-tier diagnostic test. This directly contributes to diagnosing more patients at the critical right time. Administering early treatment decreases hospitalisations, reduces intensive care stays, and fundamentally relieves families. Previously, families would spend seven years moving from one doctor to another. Now, particularly in acute or intensive care settings, we can obtain whole genome results within one week. You can imagine how significantly this alleviates the burden on the healthcare system and society.
What is the next frontier for Qatar and Sidra Medicine to reduce this timeframe even further?
Expanded genomic newborn screening is the definitive path forward. 30 years ago, this region lacked national newborn screening entirely. We launched our expanded metabolic screening in 2003. To illustrate its impact, there is one specific metabolic disease that we were taught in medical school only occurred in Europe and the US – we literally referred to it as a “Western disease.” When we established our screening programme here in Qatar, we quickly diagnosed our first patient. Initially, we assumed it was an anomaly. Today, we are managing around 50 patients with that exact condition. Comprehensive screening is undeniably the future of preventive care.
What impact do you expect Sidra Medicine’s recently launched Gene Therapy Centre to have on patient outcomes?
We established the Gene Therapy Centre to focus heavily on neuromuscular and neurometabolic disorders. Its establishment was also in response to demand from neighbouring countries, and a crucial step in meeting the needs of families seeking cutting-edge treatments for SMA and DMD..
As a Qatari institution, our goal is to create a regional center of excellence, where children from across the Arab world can access advanced therapies without the need to travel long distances, bringing world-class care closer to home.
To date, we have administered targeted gene therapy for spinal muscular atrophy to over 65 patients, with approximately 50 to 60 percent of those being international patients travelling from the wider region and globally. We have also administered novel gene therapy for Duchenne Muscular Dystrophy to eight patients – two of whom were international – and we are preparing to treat another two patients next month.
Furthermore, we are preparing to implement an intrathecal gene therapy for spinal muscular atrophy.
Because this treatment is delivered directly into the spinal canal, it provides a critical opportunity for patients aged two years and older. The current systemic gene therapies are typically restricted to children under two years of age or weighing less than 21 kilograms. This new intrathecal approach will benefit older children and even adult populations.
More broadly, Qatar is among the first countries globally to administer these advanced therapies. When presenting our outcomes at international conferences, we often illustrate patient origins on a global map, reflecting the breadth of international referrals. In parallel, our haematology colleagues are establishing ex vivo gene and cell therapy programmes for sickle cell disease and thalassemia, further strengthening Qatar’s position as a regional hub for advanced therapeutics.
Despite a high burden of rare diseases in the region, the Middle East accounts for a relatively small proportion of rare disease clinical trials. What is the region’s capacity to expand on this front?
Establishing robust clinical trial units is a core component of the strategic vision for both Sidra Medicine and Qatar. Finding eligible patients for rare disease trials is notoriously challenging for the pharmaceutical industry. However, our region possesses relatively larger patient cohorts due to factors such as consanguinity, larger family sizes, and advanced diagnostic infrastructure.
Furthermore, regulatory authorities like the US Food and Drug Administration now actively emphasise the importance of conducting trials within heterogeneous populations. Even when treating the same genetic disease, therapeutic outcomes and adverse effects can vary significantly between different ethnic groups. Including diverse populations provides invaluable insights.
At Sidra Medicine, we offer a comprehensive ecosystem: an excellent clinical trials unit, robust animal models, and an outstanding genomics department led by our Chief Research officer, Prof. Khalid Fakhro. Sidra Medicine’s commitment to translational research is positioning Qatar at the forefront of research-guided care. Our aim is to offer care where precision medicine reaches its full potential by placing patients at the center of every journey, from diagnosis through cure.
Why do so many health systems struggle to convert raw genomic data into tangible clinical action, and how are you attempting to succeed where others have not?
That is a critical issue. We have sequenced 50,000 individuals and amassed a wealth of data, but translation is key. I approach this from two primary angles. The first is establishing preventive strategies. By analysing the national genomic database, we can identify the specific diseases burdening our population and directly integrate them into genomic newborn screening, pre-marital screening, and pre-conception screening. Previously, we only reacted to symptomatic patients; now, we are proactively learning from the genome.
The second angle is drug discovery. We review our database to identify common genetic variants unique to our population. We frequently encounter severe disorders that are primarily – or exclusively – reported within Arab populations, representing massive unmet medical needs. High incidences of classical homocystinuria and Woodhouse-Sakati syndrome are prime examples. Leveraging this data directly drives targeted drug discovery and attracts highly specific clinical trials.
How does Sidra Medicine collaborate with the pharmaceutical industry to facilitate clinical trials?
Historically, the industry focused on other geographic regions for clinical trials. However, with our recent infrastructural advancements, pharmaceutical companies recognise the immense value we offer. By providing a well-established clinical trial unit at Sidra Medicine, direct access to specific patient populations, and strict safety networks, we are now actively receiving requests from multiple pharmaceutical companies seeking to initiate phase one clinical trials. Launching a phase one trial requires a profound foundation of trust built over years, and our expert ecosystem naturally attracts these essential partnerships.
We are currently running clinical trials for classical homocystinuria. Uniquely, 98 to 99 percent of the patients in Qatar share a single founder mutation. It is a severe condition requiring a highly restrictive, synthetic diet, which is exceptionally difficult to manage for small children. We are currently participating in a pivotal international clinical trial investigating a novel enzyme replacement therapy for this exact condition.
Additionally, we are conducting a clinical trial for spinal muscular atrophy sponsored by Roche, whilst our endocrinology colleagues are leading trials targeting hyperinsulinism and various other complex endocrine disorders.
The Middle East has a high prevalence of rare blood disorders like thalassemia; what do you see as Sidra Medicine’s role in driving innovation in this field?
Haemoglobinopathies, notably sickle cell disease and thalassemia, are highly prevalent in the region. Consequently, we have incorporated them into our primary health and newborn screening protocols. The systemic burden of these diseases is immense, primarily due to the constant requirement for blood transfusions.
Our haematology division is establishing advanced ex vivo gene therapies for both conditions. Ex vivo therapy involves extracting stem cells from the patient, treating them genetically outside the body, and carefully reinfusing them. This represents a highly sophisticated cellular approach that will significantly impact the global treatment paradigm.
Looking ahead – and considering the rapid pace of innovation – what defining milestones are you most excited about for the next two to three years?
Ten years ago, when diagnosing a condition like spinal muscular atrophy, we had to sit with a family and explain that their child had a devastating genetic disease with absolutely no available treatment, and that the child would likely pass away before their first birthday.
Today, the paradigm has entirely shifted. Just last week, we diagnosed a new infant. We sat with the family, explained the severity of the diagnosis, but immediately offered a free, life-saving treatment. We have now treated over 65 children who are living entirely normal lives.
Looking three to five years ahead, I envision a scenario where these individuals are no longer “patients” in the traditional sense. We will identify their genetic markers via newborn screening and administer curative therapies long before any clinical symptoms manifest. They will simply live normal lives. This is the ultimate promise of preventive genomic medicine.
Do you have a final message to impart to our global audience?
The message I consistently share with medical students and residents is this: when you see a patient in your clinic, treat them as if they are your sole focus. We learn the science of medicine from textbooks, but our most profound teachers are our patients and their families. Listening to parents is paramount. Families are the true drivers pushing for advanced, innovative treatments because they live the reality every single day. To a physician, a specific diagnosis might represent one in 10,000 rare diseases; to that family, it represents 100 percent of their entire world.
