Although 8 million children are affected by genetic diseases worldwide each year, it currently takes an average of five years to receive a diagnosis. Time is of the essence in diagnosing and treating critically ill young patients with rare genetic diseases—alleviating unnecessary tests, crises and heartache.
At Rady Children’s Institute for Genomic Medicine, rapid diagnostics guide treatment for acute pediatric illnesses of unknown origin in real time.
Fueled by revolutionary technology, the Institute for Genomic Medicine harnesses the power of rapid whole genome sequencing to provide timely diagnoses of genetic diseases. With this information, clinicians can act quickly with effective therapies to prevent severe illness and save lives.
SUPPORTING EVERY CHILD
8 million
children affected by genetic diseases worldwide each year
80+
children’s hospitals utilize rapid diagnostic tools to identify and treat genetic diseases in partnership with Rady Children’s
3
days or less for clinicians and families to receive ultra-rapid whole genome sequencing results
SEQUENCE OF HOPE: FITZ’S STORY
Just 36 hours after Fitz’s parents arrived home from the hospital with their new baby, their pediatrician called with bad news. A newborn screening test revealed Fitz had Severe Combined Immunodeficiency (SCID), commonly known as “bubble boy disease.”
We’ve only scratched the surface of what this technology can do to bring answers, hope and healing to the children and families who need them.
Among our top philanthropic priorities:
- Access and Equity
- Therapeutic Innovation and Expanded Screenings
- Talent Recruitment and Training
- Research
Join Us
to empower more cutting-edge breakthroughs and make lifesaving genomic medicine available to children who need it in San Diego and everywhere.
To learn more about how you can support Rady Children’s Institute for Genomic Medicine, contact:
Julie Reinke
JReinke@rchsd.org