Our research programs continue to support innovative breakthroughs and discoveries! Read on for more Updates from the Lab.

Breaking News
On October 1, 2022, a new diagnosis code for APDS, D81.82, will be available. APDS, activated PI3K delta syndrome, is a rare and progressive primary immunodeficiency, first characterized in 2013. 

Multiple patient advocacy groups, disease foundations, and specialty society groups, along with Pharming Group N.V, were involved in supporting the new diagnosis code. Diagnosis codes allow greater specificity for providers and payers to gather information about patients’ conditions and treatments.

For more information about APDS, please visit https://allaboutapds.com/.

Jeffrey’s Insights: Gene Sequencing Program
As of July 31st, 2022:

  • Over 2,600 patients tested
  • US – 25%
  • INT – 75%
  • Over 17,000 variants identified

Translational Research Program
Consideration for Cycle 10 of our Translational Research Program is underway. Grants will be awarded by November 18, 2022.

Specific Defect
Awards are granted on a rolling basis throughout the year ($1,782,136 total to-date). There are currently 39 Specific Defect Research Grants in progress.

c.h.i.l.d.r.e.n!
Awards are granted on a rolling basis throughout the year. There have been 25 awards made to date ($980,057 total).