Connor Dalby could not walk for the first 14 years of his life, so his newfound ability to scamper down hallways is miraculous on its own. The post This Oceanside teen once suffered hundreds of seizures a day. Now he can walk thanks to an experimental drug. appeared first on RCIGM .
The two-year treatment targeting protein production by disease-causing mutations dramatically reduced seizures and sparked developmental gains, helping one teenager walk independently. SAN DIEGO, Calif. — July 21, 2026 – SCN2A‑related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism. The condition is [……
NEW YORK – A coalition of lawmakers in the US on Thursday introduced new legislation to ensure Medicaid coverage of genomic sequencing in children who have a suspected rare disease or genetic disorder. The post US Lawmakers Introduce Bill to Cover Genomic Sequencing in Sick Children appeared first on RCIGM .
NEW YORK – In recognition of GenomeWeb’s 25th anniversary, we are conducting a series of interviews with leaders in the field to reflect on the last 25 years of genomics, as well as what the future may hold. The post Q&A: Stephen Kingsmore on Diagnostic Newborn Genome Sequencing, Medicine’s Slow Pace of Change appeared first on RCIGM .
BeginNGS Enables Early Detection of Hundreds of Treatable Genetic Disorders in Newborns Riyadh, Saudi Arabia —October 7, 2025– Rady Children’s Institute for Genomic Medicine (RCIGM) today announced an agreement with King Faisal Specialist Hospital & Research Centre (KFSHRC), a leading healthcare, research, and education institution recognized across Middle East and Internationally for providing w…
Traditional NBS uptake has been slow, now new technology is launching pilot projects in NBS by genome sequencing for hundreds of treatable diseases. In this Rarity podcast episode, Dr. Stephen Kingsmore joins to discuss the future of NBS including opportunities and barriers to implementation. The post Reducing the Diagnostic Odyssey via Newborn Screening by Genome Sequencing appeared first on RCI…
P4ML, a technology and implementation partner in precision medicine, today announced a groundbreaking collaboration with Rady Children’s Institute for Genomic Medicine (RCIGM®) in San Diego, California, USA, making the company one of the first biotechnology partners to join the BeginNGS® global newborn screening program. Through this partnership, BeginNGS® and P4ML will expand newborn screening a…
Rady Children’s Institute for Genomic Medicine (RCIGM®) has announced a groundbreaking international partnership with Sidra Medicine, a leading specialty healthcare organization serving women, children, and young people in the State of Qatar. This collaboration marks a significant milestone as Sidra Medicine becomes the first international site of the BeginNGS (pronounced “beginnings”) genome-bas…
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 detecti…
NEW YORK – Rady Children’s Institute for Genomic Medicine (RCIGM) said Tuesday that it has inked a partnership with Sidra Medicine in Qatar to implement the BeginNGS genome-based newborn screening program in the region. The post Rady’s BeginNGS Newborn Sequencing Program Inks Partnership With Qatar’s Sidra Medicine appeared first on RCIGM .
BeginNGS to screen newborns for more than one thousand treatable genetic disorders Doha, Qatar —August 19, 2025– 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 [……
