BeginNGS to partner with the Qatari Project NOOR to screen newborns for more than one thousand treatable genetic disorders
DOHA, Qatar, Aug. 19, 2025 /PRNewswire/ -- Rady Children's Institute for Genomic Medicine (RCIGM®) today announced an agreement with Sidra Medicine, a world-class specialty healthcare organization for women, children and young people in the State of Qatar, to collaborate on implementing RCIGM's genome-based newborn screening program, BeginNGS (pronounced "beginnings"). Sidra Medicine joins the BeginNGS Consortium as the first international BeginNGS site (research collaboration?).
Sidra Medicine's Division of Genetic and Genomic Medicine is at the forefront of genomic medicine research in the region, offering comprehensive, cutting-edge care for patients of all ages affected by inherited or rare genetic conditions. Under the leadership of Dr. Ammira Al-Shabeeb Akil, PhD, EMBA, Principal Investigator and lead of the Metabolic and Mendelian Clinical-Translational Research Programs and Head of the Precision Genomics and Translational Omics Lab at Sidra Medicine; and building off of her pivotal work in establishing the country's first large-scale newborn genome screening initiative (NOOR-QATAR), this collaboration will aim to advance the detection of genetic diseases and enable timely interventions that lessen and prevent suffering among children.
"Families often face a diagnostic odyssey for childhood genetic diseases, whereby children wait, on average, five years for the genetic disease causing their symptoms to be diagnosed," said Dr. Akil. "Sidra Medicine is delighted to join the BeginNGS Consortium as this newborn screening program has the potential to save lives by identifying rare diseases and aligning treatments at the very beginning of life, and to become a model for precision medicine for childhood genetic disease in the region.
Through this collaboration, the BeginNGS program will broaden the approach to health equity and through the implementation of pilot studies, add diseases and genetic causes to the BeginNGS newborn screening platform that are tailored to meet the needs of the region's population.
"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," said Stephen Kingsmore, MD, DSc, President & CEO of RCIGM. "It is our shared vision for the State of Qatar to be among the first countries in the world to make the benefits of newborn therapies for severe childhood diseases available to every citizen."
As the BeginNGS program scales and expands across the United States and internationally, Consortium members will support the program goal of implementing BeginNGS for 1,000 diseases in at least 10 countries by 2030.
"Living with a rare disease is inherently inequitable, but by lessening the burden of the diagnostic odyssey, we can advance health equity solutions for patients with genetically based rare diseases and their families," said Tom DeFay, PhD, Vice Chair of BeginNGS and Deputy Head of Diagnostics at Alexion. "We look forward to continuing to support the BeginNGS Consortium and its members in advancing the global reach of critical diagnostic tools — the first step in the journey to care and treatment."
About BeginNGS
Launched by RCIGM and its founding partners in 2022, 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. Our vision is to implement BeginNGS for 1,000 diseases by 2030 in 10 countries. This new phase of BeginNGS is supported by promising results of two studies recently published in The American Journal of Human Genetics showing that the BeginNGS technology platform reduces false positives by 97 percent, diagnoses genetic diseases earlier, and benefits one in 13 infants who might otherwise have tragic outcomes. BeginNGS currently screens for 511 severe childhood genetic diseases with effective interventions at multiple hospitals in the United States.
BeginNGS is made possible by the support and intellectual resources of BeginNGS Consortium members comprised of leading organizations in healthcare delivery, biopharma, biotech, information technology and patient advocacy, who are working together to create a new ecosystem for genome-informed healthcare delivery that can scale to meet the needs of countries worldwide.
Media Contact
Ben Metcalf | Cell: (619) 822-8593 |bmetcalf@rchsd.org
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SOURCE The Rady Children’s Institute for Genomic Medicine (RCIGM)
