Skip to main content
Premium Trial:

Request an Annual Quote

Rady Children's Institute, Alexion Pharmaceuticals Form Precision Medicine Partnership

NEW YORK (GenomeWeb) – The Rady Children's Institute for Genomic Medicine (RCIGM) and Alexion Pharmaceuticals announced today that they have partnered to develop the company's SmartPanel precision medicine platform for use in newborns with rare genetic disorders.

The SmartPanel platform identifies and prioritizes rare disease genes from a patient's next-generation sequencing data and specific clinical presentation. RCIGM is currently evaluating the platform to establish positive predictive value, enable electronic medical record integration for rapid phenotypic extraction, and assess overall patient outcomes via earlier diagnosis.

Under the terms of their alliance, Alexion and RCIGM will collaborate on patient and disease characterization, algorithmic modules, and scalability with the goal of accelerating the diagnosis of critically ill newborns with rare genetic conditions. Core capabilities developed through the arrangement are expected to be made available to the open-source community.

Additional terms were not disclosed.

"In rare diseases, rapid diagnosis is made all the more challenging by the significant amount of genomic and phenotypic data a clinician must sift through to reach a diagnosis," John Reynders, vice president of data sciences, genomics, and bioinformatics at Alexion, said in a statement. "This collaboration will help accelerate an accurate diagnosis for patients with genetic diseases [and] clarify available paths of intervention."

The Scan

US Booster Eligibility Decision

The US CDC director recommends that people at high risk of developing COVID-19 due to their jobs also be eligible for COVID-19 boosters, in addition to those 65 years old and older or with underlying medical conditions.

Arizona Bill Before Judge

The Arizona Daily Star reports that a judge is weighing whether a new Arizona law restricting abortion due to genetic conditions is a ban or a restriction.

Additional Genes

Wales is rolling out new genetic testing service for cancer patients, according to BBC News.

Science Papers Examine State of Human Genomic Research, Single-Cell Protein Quantification

In Science this week: a number of editorials and policy reports discuss advances in human genomic research, and more.