This $2,507,286.11 Project Grant awarded by the National Institutes of Health (CFDA 93.310 Trans-NIH Research Support) aims to advance the understanding and treatment of Down Syndrome Regression Disorder (DSRD). The primary objectives are to: 1) Define the relative safety profile of three potential DSRD therapies - the benzodiazepine lorazepam, intravenous immunoglobulin (IVIG), and the JAK inhibitor tofacitinib; 2) Compare the efficacy of these three therapies across key neurological and...
This $3.386 million project grant from the National Institutes of Health's Trans-NIH Research Support program (CFDA 93.310) will fund research at Beth Israel Deaconess Medical Center to develop a potential treatment for Down syndrome. The grantee will assess the efficiency of using a modified CRISPR approach and single nucleotide polymorphism-based guide RNA targeting to silence one of three copies of human chromosome 21 in the Tc1 mouse model of Down syndrome. If successful, this research could...
This Project Grant award from the National Cancer Institute's Cancer Biology Research Program (CFDA 93.396) supports research to investigate the role of panoptosis (a collective term for pyroptosis, apoptosis, and necroptosis) in the treatment of myelodysplastic syndromes (MDS). The $344,111 award to Loyola University of Chicago's Health Sciences Campus, effective April 1, 2025 through March 31, 2030, aims to determine whether genetic or pharmacological inhibition of RIPK1 and TBK1 can restore...
This Project Grant award from the National Institutes of Health (NIH) Office of the Director, under the Trans-NIH Research Support program (CFDA 93.310), will provide $10,000,000 to Colorado State University over a 5-year period starting on September 4, 2024. The project aims to characterize early cognitive development in young children with Down syndrome, with a focus on understanding the origins of severe or profound intellectual disability (S/PID). The research will involve comprehensive...
This Project Grant award from the National Institute of Child Health and Human Development (NICHD), under the Child Health and Human Development Extramural Research program (CFDA 93.865), provides $429,000.00 to the Regents of the University of Michigan to study the molecular mechanisms underlying changes in inhibitory synapses in Down syndrome. The primary goal is to discover how the overexpression of the Down Syndrome Cell Adhesion Molecule (DSCAM) gene, resulting from trisomy 21, causes...
This $1,633,451 federal Project Grant award from the National Institutes of Health (NIH) Trans-NIH Research Support program (CFDA 93.310) will fund a research project at Texas A&M AgriLife Research to determine the cell-specific mechanisms driving aberrant bone regeneration in Down syndrome. The 3-year project aims to characterize the transcriptome, osteoclast/osteoblast activity, and sexually dimorphic impacts on bone healing in multiple murine models of Down syndrome. The research will...
This Project Grant award of $458,698 from the National Cancer Institute (CFDA 93.396 - Cancer Biology Research) supports research at the University of Michigan to study novel genes that influence therapy resistance and relapse in acute myeloid leukemia (AML). The research aims to identify cellular and molecular mechanisms underlying the persistence and regrowth of leukemic cells after treatment, with the goal of improving AML therapy and patient outcomes. Over the 5-year project period from...
This federal Project Grant award of $584,872 from the National Cancer Institute (NCI) under the Cancer Treatment Research program (CFDA 93.395) supports research to investigate targeting R-loop-induced genomic instability as a potential therapeutic strategy for myelodysplastic syndrome (MDS) patients with endogenous mutations in RNA splicing factor genes. The two main aims of the research are: 1) to dissect the molecular mechanisms underlying the sensitivity of splicing mutant MDS cells to...
The National Heart, Lung, and Blood Institute (NHLBI) awarded a $435,804 Project Grant under the Cardiovascular Diseases Research (CFDA 93.837) program to Childrens Hospital Medical Center in Cincinnati, Ohio. The grant will fund research to elucidate the mechanistic basis for the selective advantage of the acquired DDX41R525H mutation in hematopoietic stem cells (HSCs) of patients with germline DDX41 mutations, who develop myelodysplastic syndrome (MDS) and related myeloid malignancies. The...
This Project Grant award from the National Cancer Institute (CFDA 93.396 - Cancer Biology Research) provides funding to the University of California, San Diego (UCSD) to investigate the role of base deaminase deregulation in the progression of myeloproliferative neoplasms (MPNs) to secondary acute myeloid leukemia (sAML). The key products and services to be delivered under this $444,952 award, with a performance period from December 1, 2024 to November 30, 2029, include: Elucidating the relative...