This federal Project Grant award of $189,056 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 by Neurosant Therapeutics LLC to develop therapeutics that can correct the underlying genetic cause of Smith-Magenis Syndrome (SMS). The key goals of the project are to demonstrate that the expression of the RAI1 gene, which is reduced in SMS due to a genetic deletion,...
The federal Project Grant award R01HD113778, totaling $2,245,254.00, was provided by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865). The award aims to characterize the natural history and progression of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS), an ultra-rare and often lethal metabolic disorder. Key objectives include: 1) Defining the spectrum of...
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 Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), under the Child Health and Human Development Extramural Research program (CFDA 93.865), provides $201,875 to Duke University to conduct research on the developmental origins of Sturge Weber Syndrome (SWS). The goal is to identify the specific fetal cell type and developmental timeframe in which the causative somatic mutation occurs, in order to generate a faithful animal...
This federal Project Grant award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) under CFDA 93.865 - Child Health and Human Development Extramural Research program supports a 5-year research project focused on pharmacogenomic factors impacting the biotransformation and precision dosing of the drug trihexyphenidyl (THP) for children with dystonia and cerebral palsy. The $164,160 award aims to: 1) Determine how CYP2D6 and CYP2C19 genotypes affect...
This Project Grant award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), under the Child Health and Human Development Extramural Research program (CFDA 93.865), provides $661,575 to Children's Hospital LOS Angeles to conduct a 5-year study on Down Syndrome Regression Disorder (DSRD). The research aims to utilize neurodiagnostic studies, proteomic, and metabolomic analyses to compare individuals with DSRD to those with Down Syndrome who do not...
This federal Project Grant award of $249,000 from 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 identify new therapeutics and understand molecular mechanisms for Congenital Disorders of Glycosylation (CDGs). The key objectives are to: 1) Determine the mechanisms of modifier genes that can rescue a DPAGT1-CDG cell model, 2) Conduct a drug repurposing screen in a DPAGT1-CDG...
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) provides $395,009 to the University of California, Davis to lay the foundation for developing a molecular therapy for ADNP syndrome. The key products and services to be delivered under this 2-year award include: Testing the presumed mechanism of action of antisense oligonucleotides (ASOs) that can...
This Project Grant award of $1,819,296.00, issued by 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 research to unravel the genomic causes for unsolved leukodystrophy patients. The award will utilize long-read genome sequencing (HiFi-GS) to identify complex genetic variants, such as repeat expansions and structural variants, that are often missed by standard short-read genome...
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...