Today's Edition
A. SREENIVASA REDDY (ABU DHABI)
As the international community observes World Rare Disease Day on Saturday (February 28), an internationally reputed expert based in Abu Dhabi has said that timely and accurate genetic diagnosis is critical to addressing rare diseases effectively.
In an interview with Aletihad, Prof. Ayman W. El-Hattab, Consultant Clinical Genetics and Director of the Genetics and Rare Disease Centre at Burjeel Medical City, said early genetic evaluation can transform outcomes for patients and families.
“Developmental delay is not a diagnosis. It is a sign, similar to fever,” Prof. El-Hattab said. “When a child presents with developmental delay, intellectual disability, or neuromuscular symptoms, we must investigate the underlying genetic cause rather than stopping at a descriptive label.”
Rare diseases, though individually uncommon, collectively affect more than 300 million people worldwide. This year’s Rare Disease Day, observed under the theme “More Than You Can Imagine”, highlights equity in access to diagnosis, care and treatment — priorities that align closely with the UAE’s evolving healthcare strategy.
Many rare disease patients endure years of uncertainty before receiving a definitive diagnosis. Prof. El-Hattab noted that international medical guidelines now recommend whole genome sequencing as a first-line investigation for children with unexplained developmental or neuromuscular conditions.
“At our center, we see hundreds of patients each month. Some seeking preventive screening, others arriving after years without answers,” he said. “Early referral to genetics can significantly shorten what is often called the diagnostic odyssey.”
Since its establishment in April last year, the Genetics and Rare Disease Center at Burjeel Medical City has been evaluating between 600 and 800 patients per month, providing genetic consultation, hereditary cancer testing and rare disease assessment.
According to Prof. El-Hattab, early genetic diagnosis brings three major benefits.
First, it enables physicians to anticipate complications and introduce proactive surveillance. If a syndrome is linked to cardiac, ophthalmologic or hormonal complications, regular monitoring can be initiated rather than waiting for symptoms to emerge.
Second, it enables prevention. Many rare disorders follow an autosomal recessive inheritance pattern, meaning both parents are carriers. Identifying the specific mutation allows families to consider IVF with pre-implantation genetic testing, thereby reducing recurrence risk.
“We have seen families avoid having more children due to fear,” he said. “When we identify the mutation, we can provide reassurance and preventive options.”
Third, identifying the genetic cause lays the foundation for research and advanced therapies. “Without knowing the gene, you cannot design targeted treatments or clinical trials. Diagnosis is the first step toward innovation,” he added.
While many rare diseases still lack curative treatment, advances in gene therapy are reshaping outcomes in certain conditions. Prof. El-Hattab highlighted progress in managing Duchenne muscular dystrophy, where gene therapy and international clinical trials are offering new hope. He emphasised that early intervention remains essential, as some therapies are most effective before disease progression.
Prof. El-Hattab stressed that rare disease care in the UAE is supported by a broader national framework.
“Abu Dhabi has created an enabling environment for rare disease care,” he said.
“The Emirati Genome Program has significantly expanded access to advanced genetic testing, and the Department of Health – Abu Dhabi continues to strengthen precision medicine, newborn screening and research frameworks. This ecosystem allows us to move faster from suspicion to diagnosis, and from diagnosis to prevention.”
Through expanded newborn screening panels, strengthened referral pathways and advanced sequencing infrastructure, Abu Dhabi has accelerated the integration of genetic diagnostics into routine care. The emirate’s regulatory framework has also encouraged clinical trials and advanced therapies, positioning it as a regional hub for rare disease research and precision medicine.
Prof. El-Hattab has contributed to the identification of more than ten novel genetic syndromes and participated in describing over twenty additional conditions in the scientific literature. Three syndromes formally carry his name, including El-Hattab-Schmidts syndrome, reflecting international recognition of his role in defining previously unknown disorders.
As World Rare Disease Day is marked, he emphasised that awareness and early evaluation remain central.
“There are still many children whose genetic causes we have not yet discovered,” he said. “Our responsibility is to continue research, continue awareness, and ensure that families receive answers earlier.”
