How Middle East's growing role in medical science can help fight against rare diseases

Regional progress made but more needed to tackle rare diseases globally, expert says

The Middle East could be at the forefront of a global health revolution that dramatically improves society's chances of fighting rare diseases, a senior pharmaceutical executive told The National.

Dr Soraya Bekkali, MD, Senior Vice President and Head of EUCAN and International Business at Alexion, AstraZeneca Rare Disease, said the UAE is making great strides through large-scale genomic programmes and the creation of a national rare disease reference centre.

While noting that the Emirates' small population gives the country an advantage in rolling out targeted, high-impact initiatives, Dr Bekkali welcomed a growing role in health for the Middle East more broadly, particularly Egypt, which recently co-sponsored a World Health Organisation resolution alongside Spain calling for a global action plan on rare diseases.

“The UAE is making great strides,” she told The National. “You can implement national plans that reach the entire population. The Emirati Genome Programme, for example, is outstanding.”

The UAE has gathered the genetic data of more than 800,000 Emiratis under the nationwide programme to combat disease before it strikes and protect the health of citizens for generations to come. Just last week, a deal was struck meaning this data could one day be used to create personalised medicine based on the specifics of an individual's DNA.

Leading the way

“In countries where consanguinity is common, you see a higher prevalence of some genetic conditions,” she said. “That makes investments in genomic screening even more important.”

Dr Bekkali said one of the most promising developments is population-wide newborn screening using genomic sequencing, which is a project the UAE and other countries in the region are pursuing.

In 2024, the Ministry of Health and Prevention launched the National Newborn Screening Guidelines, to enhance medical examination procedures for babies born in the country.

The screenings, now implemented at all government and private hospitals in the UAE, include blood spot tests, early diagnosis of genetic diseases, metabolic and endocrine disorders, as well as screening for hearing abnormalities, heart defects, and other congenital anomalies.

“If we can identify these conditions before symptoms begin, we can intervene earlier and prevent serious complications or even death,” she said.

Dr Bekkali, who was speaking to The National on the sidelines of Abu Dhabi Global Health Week earlier this month, also noted the progress in gene therapy and gene editing, technologies that could potentially offer lifelong cures for patients with inherited diseases.

“Some treatments already exist,” she said. “There’s a gene therapy that restored sight in people with a rare form of inherited blindness. Another helped babies with spinal muscular atrophy, who would have lost function within two years, to develop normally after a single infusion.”

Some gene therapies are bespoke, tailored to the patient, while others are designed to be used off-the shelf, making them easier to scale and distribute especially as more countries adopt regulatory frameworks to speed up access.

“The science is moving fast,” she said. “We’ve seen what’s possible. The question now is how fast we’re willing to move to make it available.”

A race against time

Looking at the global picture, Dr Bekkali said patients with rare conditions are still waiting far too long for diagnosis and access to care despite the availability of scientific tools to help them.

“What keeps me up at night is the lack of urgency,” she said. “We have the tools. We have the science. There are patients waiting for us. We have to move faster.”

Having worked in rare diseases for more than 20 years, Dr Bekkali said the inequities facing patients with these conditions are among the worst in healthcare.

“In medical school, I remember seeing some of these diseases mentioned as a bullet point at the end of a textbook,” she said. “A physician might never come across one in their whole career. These patients are often invisible in the systems that are supposed to serve them.”

Globally, there are about 10,000 known rare diseases. Fewer than 10 per cent have approved treatments. In Europe, a disease is considered rare if it affects fewer than five in 10,000 people. In the US, the definition is fewer than 200,000 people nationally.

Until recently, developing therapies for such small patient groups was seen as commercially unfeasible. “Fifty years ago, drug companies weren’t investing in this space,” she said. “The development timelines and manufacturing costs were the same as for common diseases but the number of patients was a fraction.”

It wasn’t until strong lobbying efforts by patient advocacy groups that regulatory bodies in the US, Europe and Japan introduced legal frameworks to encourage drug development in this area. These included incentives such as lower fees, extended data exclusivity, and accelerated approval pathways.

Since then, more than 200 rare disease therapies have been approved but thousands more are needed. “Those changes made it possible for pharma companies to invest in rare disease,” Dr Bekkali said. “But we’re nowhere near where we need to be.”

Abu Dhabi Global Health Week – in pictures

Visitors at the Abu Dhabi Life Sciences at Abu Dhabi Global Health Week. All photos: Chris Whiteoak / The National

The Pure Health stand

Visitors at Abu Dhabi Global Health Week

The M42 stand

A display at the NMC stand

The Burjeel Holdings stand

Visitors at Abu Dhabi Global Health Week