Sidra Medicine Partners with BeginNGS® to Launch Genome-based Newborn Screening Research Program

BeginNGS to screen newborns for hundreds of treatable genetic disorders

20 August 2025, Doha, Qatar – Sidra Medicine, a member of Qatar Foundation and Rady Children’s Institute for Genomic Medicine (RCIGM®)  have signed an agreement to collaborate on implementing RCIGM’s genome-based newborn screening research program, BeginNGS (pronounced “beginnings”).

Sidra Medicine is the first international site to join the BeginNGS Consortium, which will help the healthcare organization to advance the detection of genetic diseases and enable timely interventions that lessen and prevent suffering among children. The agreement is part of Sidra Medicine’s Research Strategy to implement translational genomic medicine for a wide range of rare and complex diseases, including monogenic disorders and type 1 diabetes.

Prof. Khalid Fakhro, Chief Research Officer at Sidra Medicine said: “We are proud to join the BeginNGS Consortium, which will allow us to accelerate the implementation of best-in-class protocols to advance precision medicine from birth, Through this partnership, we will develop screening algorithms tailored to our population and shorten the path from diagnosis to intervention by picking up conditions as early as possible, thus giving children with rare and metabolic disorders in Qatar and the region the best possible start in life.”

The partnership with BeginNGS will extend Sidra Medicine’s efforts to establish the first large-scale newborn genome screening research initiative in the region. The initiative, known as NOOR-QATAR, led by Dr. Ammira Al-Shabeeb Akil, Director of the Metabolic and Mendelian Translational Research Program at Sidra Medicine, will also set a new standard for preventative medicine in genomics.

Dr. Ammira Akil, Lead Principal Investigator at Sidra Medicine said: “Families often face a diagnostic odyssey for childhood genetic diseases, with children waiting an average five years for a confirmed diagnosis.  The BeginNGS Consortium builds upon our successful launch of the NOOR-QATAR newborn screening program, benefiting from the expertise of an exceptional consortium of partners targeting the potential to save lives by identifying rare diseases and assessing polygenic risk for conditions such as type 1 diabetes.”

BeginNGS is designed to prevent or minimize the effects of hundreds of childhood genetic diseases by identifying babies at risk and recommending effective therapies before symptoms arise. BeginNGS currently screens for 511 severe childhood genetic diseases with effective interventions at multiple hospitals in the United States. Its vision is to implement BeginNGS for 1,000 diseases by 2030 in 10 countries.

Dr. Stephen Kingsmore, President & CEO of RCIGM. “Expanding internationally is critical for our understanding of the incidence of rare diseases across different geographies and to identify appropriate, available treatments at or before the onset of symptoms. It is our shared vision for Sidra Medicine to be the first international site, to make the benefits of newborn therapies for severe childhood diseases, available to every citizen in Qatar.”