Sidra Medicine, a member of Qatar Foundation, has signed an agreement with Rady Children’s Institute for Genomic Medicine (RCIGM®) to implement BeginNGS—a groundbreaking genome-based newborn screening research program (pronounced “beginnings”).
With this collaboration, Sidra Medicine becomes the first international site to join the BeginNGS Consortium. The partnership will advance the early detection of genetic diseases, enabling timely interventions that reduce suffering and improve health outcomes for children. This milestone is part of Sidra Medicine’s Research Strategy, which applies translational genomic medicine to rare and complex diseases, including monogenic disorders and type 1 diabetes.
Prof. Khalid Fakhro, Chief Research Officer at Sidra Medicine, remarked:
“We are proud to join the BeginNGS Consortium, which will allow us to accelerate best-in-class precision medicine protocols from birth. Through this collaboration, we will design screening algorithms tailored to our population, enabling earlier diagnosis and faster intervention—giving children in Qatar and the region the best possible start in life.”
At the heart of this effort is NOOR-QATAR, the first large-scale newborn genome screening research initiative in the region, led by Dr. Ammira Al-Shabeeb Akil, Director of the Metabolic and Mendelian Translational Research Program at Sidra Medicine. The initiative is set to establish a new benchmark for preventative genomic medicine.
Dr. Ammira Akil explained:
“Families of children with genetic diseases often endure a long diagnostic odyssey, waiting an average of five years for a confirmed diagnosis. The BeginNGS Consortium builds on our launch of NOOR-QATAR, supported by an outstanding network of partners, to save lives by identifying rare diseases earlier and assessing polygenic risk for conditions such as type 1 diabetes.”
BeginNGS is designed to minimize or prevent the impact of hundreds of childhood genetic diseases by detecting risk before symptoms appear and recommending effective therapies. Currently operating in several U.S. hospitals, the program screens for 511 severe childhood genetic diseases. Its long-term vision is to expand coverage to 1,000 diseases by 2030 across 10 countries.
Dr. Stephen Kingsmore, President & CEO of RCIGM, added:
“International expansion is vital to understand rare disease incidence across different regions and to deliver effective therapies at or before symptom onset. With Sidra Medicine as the first international site, we share a vision of bringing newborn therapies for severe childhood diseases to every family in Qatar.”
Source: I Love Qatar
