Global Genes and Rady Children's Institute for Genomic Medicine Partner to Develop Next-Generation Support Network for Families With Diagnosed Gene-Based Rare Diseases
ALISO VIEJO, Calif.--(BUSINESS WIRE)-- As gene-based diagnostics are shortening the path to an accurate diagnosis, the risk of disparities in service and support have increased. To reduce those disparities, Global Genes, a leading rare disease patient advocacy organization, is pleased to announce a new partnership with Rady Children’s Institute for Genomic Medicine (RCIGM) to develop a next-generation support network for families with gene-based diagnosed rare diseases.
Approximately 80 percent of rare diseases have identified genetic origins, many caused by defects in a single gene. Fifty percent of known rare diseases affect children and 30 percent of children with rare diseases die before the age of five years. Through Project Baby Bear, RCIGM diagnosed 35 rare conditions that occur in less than one in one million births. RCIGM demonstrated that access to rapid Whole Genome Sequencing™ (rWGS®) not only shortens the time to diagnosis for newborn babies, but also reduces healthcare costs and downstream spending, primarily by empowering doctors to eliminate unnecessary procedures and discharge babies sooner.
RCIGM is recognized as a global leader in providing medical teams with life-changing genomic information to solve medical mysteries and improve outcomes for critically ill babies and children struggling to survive. They serve a growing network of more than 42 children’s hospitals nationwide. “It’s our joy and privilege to do work that offers hope and improves the lives of families and children with rare disease,” said Stephen Kingsmore, M.D., DSc, president and CEO of RCIGM. “When it comes to finding answers and support, we recognize that patient families face many challenges. 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 this novel partnership, Global Genes will work with RCIGM to connect patients and parents to needed services, support, education, and resources regarding genetic testing. 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,” said Christian Rubio, vice president, strategic advancement at Global Genes.
About Global Genes
Global Genes is a 501(c)(3) nonprofit organization on a mission to connect, empower, and inspire the rare disease community. We provide hope for more than 400 million people affected by rare disease around the globe. To date, we’ve educated millions of people in more than one hundred countries about rare disease, equipped patients and advocates with tools and resources, and provided hundreds of thousands of dollars in support for innovative patient impact programs. If you or someone you love has a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit the resource hub.
About Rady Children’s for Genomic Medicine (RCIGM)
The Institute is leading the way in advancing disease-specific healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego and a growing network of more than 40 children’s hospitals nationwide. The vision is to expand delivery of this life-saving technology to enable the practice of Rapid Precision Medicine™ at children’s hospitals across the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. Learn more at www.RadyGenomics.org. Follow us on Twitter and LinkedIn.
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Source: Global Genes
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