SCID Angels For Life Foundation along with ADMA Biologics is pleased to announce the 2024 Grant Awardee.
2024 Grant Awarded
One Year Grant – New and Innovative Curative Treatment Approach
Dr. Hemalatha G. Rangarajan, MD
Nationwide Children’s Hospital
“Outcomes Following Allogeneic Hematopoietic Stem Cell Transplantation for Cartilage Hair Hypoplasia with Severe Combined Immune Deficiency: A Retrospective EBMT – CMBTR Study”
With the advent of newborn screening (NBS) for SCID, IEI such as Cartilage hair hypoplasia (CHH) have been identified to present with SCID and CID phenotype early in life. Limited data exists on HCT outcome of CHH patients, precluding meaningful conclusions about the best HCT practices, co-morbidities that influence outcomes, and pre-transplant and disease-specific morbidity and mortality associated with HCT. The data collection will add to the existing information in the registries and provide more disease-specific outcomes relevant to this rare IEI.
2022 Grants Awarded
One Year Grant for – New and Innovative Curative Treatment Approach
Dr. Donald B. Kohn, MD
University of California, Los Angeles
“IL7Rα gene editing to treat IL7Rα-SCID”
The work being performed is to develop a gene editing approach to treat IL7Rα SCID starting with the initial studies to assess elements of the gene editing reagents. These studies will provide the basis for the next set of steps, to test the optimal IL7Rα gene editing reagents. The goal is to develop an effective method to treat IL7Rα SCID using gene editing in autologous HSC.
One Year Grant for – Innovative Approach Targeting a Marginalized Community
Dr. Jolan Walter, MD, PhD
University of South Florida
“Predicting the clinical phenotype and increasing awareness of a novel RAG1 p.C176F founder variant causing atypical SCID with variable immune dysregulation in U.S. Mennonite communities”
The study involves members of conservative Mennonite communities with the same homozygous RAG1 p.C176F founder variant yet highly variable disease severity. These communities reside in four states: Pennsylvania, Virginia, North Carolina and Ohio. Conservative members of the Mennonite religion are marginalized regarding their health and healthcare needs for multiple reasons. The outcomes of the study are increased awareness of the RAG1 founder variant among Mennonite community members and greater inclination to seek genetic screening and follow-up care. Additionally, it is anticipated that the study will lead to novel preventive and therapeutic strategies that reduce disease severity of those who inherit the RAG1 founder variant as well as other variants of atypical SCID with variable clinical presentations.
