BeginNGS to partner with the Qatari Project NOOR to screen newborns for more than one thousand treatable genetic disorders
Rady Children’s Institute for Genomic Medicine (RCIGM) has announced a new partnership with Sidra Medicine in Qatar to introduce its genome-based newborn screening program, called BeginNGS. This collaboration marks the first international location to join the BeginNGS Consortium and aims to bring genome sequencing to newborn screening on a global level.
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Sidra Medicine, known for leading genetic and genomic care in the region, is well-suited to support this initiative. Under the guidance of Dr. Ammira Al-Shabeeb Akil, Principal Investigator and head of the Metabolic and Mendelian Clinical-Translational Research Programs, the partnership will build upon Qatar’s previous genome screening projects, including the NOOR-QATAR project. The objective is to detect rare genetic conditions early in life so that timely and effective medical treatments can be provided. Dr. Akil explained, “Families often go through a long and difficult process to find out what is causing their child’s genetic disease. On average, it takes five years to get a diagnosis. Sidra Medicine is pleased to join the BeginNGS Consortium because this newborn screening program has the potential to save lives by identifying rare diseases and starting treatment right from the beginning of a child’s life. It also has the potential to become a model for precision medicine in the region for childhood genetic diseases.”
The collaboration will also introduce pilot studies aimed at adding new diseases and gene variations to the BeginNGS screening platform. This will help tailor the diagnostic process to the unique genetic makeup of Qatar’s population. This effort supports a larger goal to enhance health equity by making vital early diagnostics accessible worldwide.
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Stephen Kingsmore, President and CEO of RCIGM, highlighted the importance of global expansion in understanding how rare diseases are spread around the world. He said, “Expanding internationally is crucial for us to understand how often rare diseases occur in different areas and to find suitable treatments before symptoms even start. It is our shared vision for Qatar to be one of the first countries globally to offer newborn therapies for severe childhood diseases to every citizen.”
As BeginNGS continues to expand, the program’s long-term goal is to screen for over 1,000 diseases in at least ten countries by 2030. Consortium members will keep working together to improve early detection and support the development of effective treatments.
Tom DeFay, Vice Chair of BeginNGS and Deputy Head of Diagnostics at Alexion, stressed the importance of earlier diagnosis. He said, “Living with a rare disease is unfair, but by reducing the long and difficult journey to diagnosis, we can help create more fair and equal health solutions for patients with rare genetic diseases and their families. We look forward to continuing to support the BeginNGS Consortium and its members in expanding the reach of essential diagnostic tools—this is the first step on the path to better care and treatment.”
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