This federal 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), will fund the design and preparation of diagnostic biomarker reference standards for mucopolysaccharidosis type I (MPS-I) and type II (MPS-II). These lysosomal storage disorders are included in newborn screening programs, but current first-tier enzyme activity screening has a high rate of false...
This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) will provide $415,712 to Research Triangle Institute (RTI International) to study how public health newborn screening programs should determine which genes to include in sequencing panels. The key objectives are to: Appraise and contrast the approaches and criteria used by experts conducting newborn sequencing studies to determine which genes to screen, synthesizing decision...
The National Institute of Child Health and Human Development (NICHD) awarded a $295,923 Project Grant to Biostrategies LC under the Child Health and Human Development Extramural Research program (CFDA 93.865). The purpose of the award is to develop a "delivery-enhanced" gene therapy drug comprising an RTB:GALNS fusion protein for treating the rare metabolic disorder Mucopolysaccharidosis Type IVA (Morquio A Syndrome). The key objectives are to: 1) optimize the RTB:GALNS construct for...
This Project Grant award from the National Center for Advancing Translational Sciences (NCATS) under CFDA 93.350 will provide $463,150 to The Regents of the University of California, San Francisco (UCSF) to establish proof-of-concept for enzyme replacement therapy (ERT) as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndrome (SPLIS), an ultra-rare and often lethal metabolic disorder. The project aims to demonstrate the efficacy of ERT in preserving kidney function and...
This Project Grant award from the National Institute of Neurological Disorders and Stroke (NINDS), under the Extramural Research Programs in the Neurosciences and Neurological Disorders (CFDA 93.853) program, provides $461,701 to Tega Therapeutics Inc. to develop and validate an intracerebroventricular (ICV) enzyme replacement therapy for the treatment of GM1 gangliosidosis, a rare lysosomal storage disease affecting the central nervous system. The key objectives are to engineer cell lines to...
This $153,252 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) supports research to develop strategies for identifying individuals at high risk for genetic diseases in order to enable earlier diagnosis and treatment. The award has two key aims: 1) Reevaluating guidelines for universal preconception carrier screening to improve uptake and include new actionable...
This $2,442,535 Project Grant award from the National Institute of Child Health and Human Development (CFDA 93.865) will fund research to understand the long-term impact and value of implementing newborn genomic sequencing. The key objectives are to: Conduct interviews with clinicians, health system leaders, and newborn screening program coordinators to understand their needs and concerns regarding integrating newborn genomic sequencing with traditional screening programs. Follow up with...
This $2,190,307 federal Project Grant award, made by the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865), aims to characterize the natural history and identify early detection methods for the rare and often lethal genetic disorder Sphingosine-1-Phosphate Lyase Insufficiency Syndrome (SPLIS). The award to the Regents of the University of California, San Francisco (UCSF) will enable the...
This Project Grant award from the National Institute of General Medical Sciences (NIGMS), under the Biomedical Research and Research Training program (CFDA 93.859), provides $350,000 to Electronic Biosciences, Inc. to develop and demonstrate a novel enzyme-based, single-molecule protein sequencing system. The innovative platform aims to leverage enzyme-driven processing and sequencing of individual proteins and peptides, combined with advanced bioinformatics, to achieve high accuracy and...
This $427,625 Project Grant awarded by the National Institute on Aging (CFDA 93.866 Aging Research) to the University of Washington aims to develop and optimize two novel blood-based biomarker assays to improve clinical diagnosis and differential diagnosis of Parkinson's disease (PD) and multiple system atrophy (MSA). The key products and services to be delivered under this 2-year grant include: Further development and optimization of a flow cytometry-based assay (APOGEE) to directly quantify...