Global Genes Enters Partnership with Rady Children’s Institute for Genomic Medicine

Rare Daily Staff

Global Genes, publisher of Rare Daily, has entered a partnership with Rady Children’s Institute for Genomic Medicine to develop a next-generation support network for families with gene-based diagnosed rare diseases.

The organizations said that the risk of disparities in service and support have increased as next-generation sequencing is leading to faster diagnosis of rare genetic diseases.

The agreement follows the success of Rady Children’s Institute for Genomic Medicine’s Project Baby Bear, a pilot project to use rapid whole genome sequencing to diagnose infants and pediatric patients in intensive care units. Through the project, Rady diagnosed 35 rare conditions that occur in less than one in one million births.

“When it comes to finding answers and support, we recognize that patient families face many challenges,” said Stephen Kingsmore, president and CEO of Rady Children’s Institute for Genomic Medicine. “That’s why we are delighted to team up with Global Genes to help connect the rare disease community with information on genomic medicine support services to break down barriers to diagnosis.”

Through Project Baby Bear, the institute showed that access to rapid whole genome sequencing not only shortens the time to diagnosis for newborn babies, but also reduces healthcare costs and downstream spending, primarily through eliminating unnecessary procedures and discharging babies sooner.

“Through this novel partnership, Global Genes will work with RCIGM to connect patients and parents to needed services, support, education, and resources regarding genetic testing,” said Christian Rubio, vice president, strategic advancement at Global Genes.

“Together, RCIGM and Global Genes aim to reduce the time to gene-based diagnoses and bring parents and patients the support they need, wherever they are in the country.”

Photo: Stephen Kingsmore, president and CEO of Rady Children’s Institute for Genomic Medicine