What's Happening in the Lab?

A thank you to our donors from the Ataxia-Pancytopenia Foundation, from founder and patient Nathan Ehrlich and Drs. Adam Frost and Eric Allenspach, for funding the efforts with matching funds from Seattle Children’s Research Institute to perform a drug screen for treatment of this rare disease.

Congratulations to Jake on acceptance to graduate school! And the SEPTIN6-related disease paper, titled “X-linked SEPTIN6-related congenital neutropenia and B cell deficiency,” has been accepted by the Journal of Human Immunity. Congratulations to all of the authors!

Exciting news! We got the Immune Deficiency Foundation Michael Blaese Research Grant Award for our work on IFNAR2 deficiency! This will help us develop and launch newborn screening for IFNAR2 deficiency, which is higher-frequency in the Alaska Native community.This will help identify children that are at high risk for life threatening viral diseases. We aim to develop treatment approaches as well!

New research offers insight into the involvement of T cell autoimmunity in Type 1 diabetes, crucial for earlier detection and prevention strategies.

Identical genetic changes within a family can lead to surprisingly different health outcomes. Over 30 years, we studied a family of affected siblings with hypomorphic RAG2 deficiency (one of the leading causes of severe combined immunodeficiency), finding self-reactive B cells are not only selected for in this disease, but also can variably expand and create a spectrum of disease phenotypes.

Lab adventure to the Mariners game! Photo by Eric Allenspach.

Lab collaboration helps link human lupus-like features to mutation in the UNC93B1 gene.

At the Seattle Children's Research Institute holiday party. Photo by Puget Sound Photo Booth Co.

Congratulations to Patricia and Stacey for publishing a fascinating example of somatic genetic rescue.

Seattle Children’s researchers and colleagues have identified a new driver of autoimmunity that may be relevant to many diseases, including lupus.

Undergraduates Jessica Li and Josh Vo join the lab at student-researchers. Welcome!

Jake joins the Allenspach Lab. Welcome to the team!

Our paper describing an Artic variant in the IFNAR2 gene leading to life-threatening viral disease was accepted in JEM.