Dustin Baldridge
A5068371988- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Peptidase Inhibition and Analysis
- Pluripotent Stem Cells Research
- Epigenetics and DNA Methylation
- Cellular transport and secretion
- Connective tissue disorders research
- RNA modifications and cancer
- Cell Adhesion Molecules Research
- RNA and protein synthesis mechanisms
- Neurogenetic and Muscular Disorders Research
- RNA Interference and Gene Delivery
- Genomics and Chromatin Dynamics
- Cancer-related gene regulation
- Ubiquitin and proteasome pathways
- Genetic and Kidney Cyst Diseases
- CRISPR and Genetic Engineering
- Mitochondrial Function and Pathology
- Endoplasmic Reticulum Stress and Disease
- Genetics, Aging, and Longevity in Model Organisms
- Muscle Physiology and Disorders
Washington University in St. Louis
2015-2025
Mallinckrodt (United States)
2017-2023
Pediatrics and Genetics
2023
University of California System
2022
St. Louis Children's Hospital
2017-2020
Baylor College of Medicine
2007-2014
Howard Hughes Medical Institute
2007
Barnes-Jewish Hospital
2001
Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management.To determine the WGS management in racially ethnically diverse geographically distributed population infants US.This randomized, time-delayed trial enrolled participants from September 11, 2017, to April 30, 2019, with observation period extending July 2, 2019. The study was conducted at 5 US...
Nucleic acid-sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease virus-associated immunopathology. Here, we report a systematic scanning-alanine mutagenesis screen of all cytosolic luminal residues the TLR chaperone protein UNC93B1, which identified both negative positive regulatory regions affecting TLR3, TLR7, TLR9 responses. We subsequently two families harboring...
Genetic testing is critical for optimal diagnosis and management of pediatric neurology patients, but access challenging. We investigated whether social determinants health (SDOH) were associated with genetic among patients in a retrospective observational study. Electronic record data extracted from outpatients (0-18 years) evaluated at single tertiary care institution between July 2018 January 2020. requests, insurance denials, test completion rates compared non-Hispanic single-racial or...
Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding chains of type I collagen. Recently, dysregulation hydroxylation a single proline residue at position 986 both triple-helical domains collagen alpha1(I) and II alpha1(II) has been implicated pathogenesis recessive forms OI. Two proteins, cartilage-associated protein (CRTAP) prolyl-3-hydroxylase-1 (P3H1, encoded LEPRE1 gene) form complex that performs brings prolyl cis-trans...
Abstract Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis posttranslational modification type I collagen. Autosomal dominant OI caused mutations the genes (COL1A1 or COL1A2) encoding chains Bruck syndrome recessive featuring congenital contractures addition to fragility; 2 PLOD2 collagen lysyl hydroxylase, whereas 1 has been mapped chromosome 17, with evidence suggesting region 17p12, but gene remained elusive...
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition urinary catheterization. The cause has remained mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger cohort patients MMIHS intestinal...
Decreased sequencing costs have led to an explosion of genetic and genomic data. These data revealed thousands candidate human disease variants. Establishing which variants cause phenotypes diseases, however, has remained challenging. Significant progress been made, including advances by the National Institutes Health (NIH)-funded Undiagnosed Diseases Network (UDN). However, 6000-13,000 additional genes remain be identified. The continued discovery rare diseases their underpinnings provides...
In a large cohort of osteogenesis imperfecta type V (OI V) patients (17 individuals from 12 families), we identified the same mutation in 5' untranslated region (5'UTR) interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.-14C > T) provide detailed description their phenotype. This leads to creation novel start codon adding five residues IFITM5 was recently reported several other OI families. The variability phenotype quite even within...
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are required for degradation proteins 26 S proteasomes. Here, we identified 15 de novo missense variants PSMC3 gene encoding subunit PSMC3/Rpt5 23 unrelated heterozygous patients an autosomal dominant form neurodevelopmental delay intellectual disability....
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, de novo heterozygous bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1). We demonstrate a reduction NARS1 mRNA expression as well enzyme levels activity both individual...
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants core protein-folding machinery TRiC/CCT individuals with malformations, intellectual disability, seizures. The chaperonin TRiC is an obligate hetero-oligomer, identify seven its eight subunits, all which impair function or assembly through different mechanisms. Transcriptome proteome analyses patient-derived...
The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult discern. Understanding these mechanisms is critical for developing treatments address underlying causes of diseases rather than merely presenting symptoms. Moreover, same dysfunctional series interrelated implicated in recessive may also lead milder potentially preventable carriers general population. Seizures a common phenotype can result from diverse...
Objectives/Goals: Returning genetic research results to participants can improve community engagement and enhance health equity. Providing investigators with a convenient cost-effective pathway for returning findings, along ensuring the necessary criteria validity utility, may reduce barriers results. Methods/Study Population: The ICTS Precision Health Genomic Return of Research Service Core (ICTS PH gROR) developed process findings who have indicated their preference be notified any that...