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Immune Deficiency Foundation (IDF) Announces 2018 Research Grant Recipients

August 21, 2018

Towson, MD – August 21, 2018 – The Immune Deficiency Foundation (IDF) recently announced it will be awarding four new grants in the second year of the IDF Research Grant Program. Established in 2015, the grants are made possible by funds set aside by the IDF Board of Trustees that are raised via IDF Walk for Primary Immunodeficiency (PI) events held each fall across the country. The program is designed to fund and seed patient-oriented research with the specific benefit of improving diagnosis, treatment, and quality of life for those living with primary immunodeficiency diseases (PI). The grants range in value from $25,000 - $50,000.

The recipients of the four grants for 2018 include:

Lori Broderick, MD, PhD – University of California, San Diego
Role of Topoismerase 2 beta in human B cell development

Megan A. Cooper, MD, PhD – St. Louis Children’s Hospital Foundation- Children’s Discovery
Novel genetic variants in pediatric patients with immune dysregulation

Attila Kumanovics, MD – University of Utah
CXCR2-Dependent Neutrophil Chemotaxis Defect in Hyper-IgE Syndrome

Carrie L. Lucas, PhD – Yale University
TLR aberrations in a novel primary immunodeficiency disorder

Grants are awarded by IDF’s Research Committee, which is comprised of clinicians and patient representatives. The independent and unbiased process is based on the peer review system utilized by the National Institutes of Health (NIH).

“While there have been tremendous advancements in the diagnosis and treatment of patients with PI in recent years, there are still many vital questions that need to be answered and issues that need to be examined further,” said John G. Boyle, President & CEO of IDF. “Establishing this research program is an important expression of IDF’s mission. We are grateful to all the organizations who applied for a grant and their commitment to seeking to help improve the lives of people living with PI.”

While the grant round is now closed for this year, IDF plans to offer another research grant and invite applicants to submit requests in 2019. If you have questions or would like to submit a grant, please contact IDF: IDFgrant@primaryimmune.org or 800-296-4433.

About the Immune Deficiency Foundation
The Immune Deficiency Foundation (IDF), founded in 1980, is the national non-profit patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research. There are approximately 250,000 people who have been diagnosed with a primary immunodeficiency disease in the U.S. IDF provides programs, services and publications for patients and families as well as for healthcare professionals caring for those living with primary immunodeficiency diseases. IDF works to address patient needs through public policy programs by focusing on issues such as insurance reimbursement, patient confidentiality, ensuring safety and availability of immunoglobulin therapy, and maintaining and enhancing patient access to treatment options.

Details on grant recipients and their projects:

Lori Broderick, MD, PhD, University of California, San Diego
The Role of Topoismerase 2 beta in human B cell development
The primary goal of this project is to understand how mutations in a single specific protein cause defects in the immune system. By learning from patients with defined immune syndromes, we can better understand normal immune cell development, function and how these cells interact with each other. The team hopes to then use this knowledge to design life altering diagnostic tests and identify new lifesaving therapies that can be applied to more common immune system defects driven by B cells, the cells that protect us from infection.

Megan A. Cooper, MD, PhD, St. Louis Children’s Hospital Foundation- Children’s Discovery Institute
Novel genetic variants in pediatric patients with immune dysregulation
The Children’s Discovery Institute is seeking to understand the molecular basis of pediatric immune dysregulation syndromes with a long-term goal of developing personalized therapies for these children. Researchers will identify pediatric patients with immune dysregulation and perform whole-exome sequencing to identify novel genetic defects with a goal of translating this information into improved patient care.

Attila Kumanovics, MD, University of Utah
CXCR2-Dependent Neutrophil Chemotaxis Defect in Hyper-IgE Syndrome
Recurrent infections are a major cause of morbidity and mortality in Hyper-immunoglobulin E (IgE) syndrome (HIES). Mutations in the STAT3 gene have been identified in almost all classic HIES patients. Clearance of infection requires a coordinated immune response, including immune cell (e.g., neutrophil granulocyte) migration to the site of injury. The goal of this proposal is to study STAT3-dependent neutrophil granulocyte migration to understand the immune defects in HIES. This proposal will identify critical steps in the human inflammatory response and potential therapeutic targets that are currently lacking to develop specific therapies for HIES.

Carrie L. Lucas, PhD, Yale University
TLR aberrations in a novel primary immunodeficiency disorder
The research team recently expanded its genetic analyses in primary immunodeficiency patients with a focus on PI3K gene mutations and have discovered a new disease involving recurrent infections, autoimmune complications, and immune cell accumulation in lung/gut disease that is caused by mutations that turn off a related PI3K molecule. The goal of this proposal is to investigate the mechanistic link between the inherited mutations and defects in innate immunity that underlie disease. This work will help define potential new therapies for this disease and related disorders and will advance our understanding of PI3K in immune function, a topic emerging as central to a spectrum of immune diseases.

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