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.”

About Sidra Medicine  

From the heart of Qatar, Sidra Medicine, is a private, not-for-profit academic healthcare and research institution for women, children, and young people.  

Established by the Qatar Foundation for Education, Science, and Community Development, Sidra Medicine is committed to delivering exceptional patient and family-focused care, conducting innovative biomedical and clinical research, and providing a personalized journey of care and cure and precision medicine specifically for rare and genetic diseases.  

To access our specialized healthcare or international patient services, including pediatric care, women's health, and rare disease treatment or to book a consultation at one of our private clinics, please call +974 40033333 or visit our website at http://www.sidra.org.  

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.