Pagé C. Goddard
A5037246698- Genomics and Rare Diseases
- Asthma and respiratory diseases
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Chronic Obstructive Pulmonary Disease (COPD) Research
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Telomeres, Telomerase, and Senescence
- Neurogenetic and Muscular Disorders Research
- Ethics in Clinical Research
- Ecology and Vegetation Dynamics Studies
- Plant and animal studies
- Congenital heart defects research
- Helicobacter pylori-related gastroenterology studies
- Genomics and Phylogenetic Studies
- Renal and related cancers
- Sensory Analysis and Statistical Methods
- IL-33, ST2, and ILC Pathways
- Bioinformatics and Genomic Networks
- RNA and protein synthesis mechanisms
- Cellular transport and secretion
- Cancer Genomics and Diagnostics
- Genetics, Bioinformatics, and Biomedical Research
Stanford University
2020-2025
University of California, San Francisco
2016-2021
National Institute of Diabetes and Digestive and Kidney Diseases
2021
National Institutes of Health
2021
University of California, Los Angeles
2016-2017
Chitose Institute of Science and Technology
1995
New York University Press
1977-1995
Cambridge University Press
1981-1986
Cambridge Philosophical Society
1982
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...
Rationale: Albuterol, a bronchodilator medication, is the first-line therapy for asthma worldwide. There are significant racial/ethnic differences in albuterol drug response.Objectives: To identify genetic variants important response (BDR) racially diverse children.Methods: We performed first whole-genome sequencing pharmacogenetics study from 1,441 children with tails of BDR distribution to association BDR.Measurements and Main Results: identified population-specific shared associated BDR,...
Invertebrate tropomyosin homologs are ligands for dectin-1.
Rare structural variants (SVs) – insertions, deletions, and complex rearrangements can cause Mendelian disease, yet they remain difficult to accurately detect interpret. We sequenced analyzed Oxford Nanopore long-read genomes of 68 individuals from the Undiagnosed Disease Network (UDN) with no previously identified diagnostic mutations short-read sequencing. Using our optimized SV detection pipelines 571 control genomes, we detected 716 rare (MAF < 0.01) alleles per genome on average,...
ABSTRACT Priority effects, where the order and timing of species arrival influence assembly ecological communities, have been observed in a variety taxa habitats. However, genetic molecular basis priority effects remains unclear, hindering better understanding when will be strong. We sought to gain such an for nectar yeast Metschnikowia reukaufii commonly found our study plant, hummingbird‐pollinated Diplacus ( Mimulus ) aurantiacus . In this M can experience strong it reaches flowers after...
RNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting variants within or near gene. This approach overlooks causal trans-acting effects splicing transcriptome-wide, such as impacting spliceosome function. We present a transcriptomics-first method diagnose diseases by examining transcriptome-wide patterns outliers. Using outlier detection methods -...
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...
Rare structural variants (SVs)-insertions, deletions, and complex rearrangements-can cause Mendelian disease, yet they remain difficult to accurately detect interpret. We sequenced analyzed Oxford Nanopore Technologies long-read genomes of 68 individuals from the undiagnosed disease network (UDN) with no previously identified diagnostic mutations short-read sequencing. Using our optimized SV detection pipelines 571 control genomes, we detected 716 rare (MAF < 0.01) alleles per genome on...
Abstract Single‐allele study designs, commonly used in genome‐wide association studies (GWAS) as well the more recently developed whole genome sequencing (WGS) studies, are a standard approach for investigating relationship of common variation within human to given phenotype interest. However, single‐allele results published many GWAS represent only tip iceberg information that can be extracted from these datasets. The primary analysis strategy entails which single nucleotide polymorphisms...
Abstract Autophagy regulates the degradation of damaged organelles and protein aggregates, is critical for neuronal development, homeostasis, maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in genes encoding autophagy-related proteins. We report three individuals from two unrelated families a disorder characterized by speech motor impairment, similar facial characteristics. Rare, conserved, bi-allelic were identified ATG4D , one four ATG4...
Mapping the functional human genome and impact of genetic variants is often limited to European-descendent population samples. To aid in overcoming this limitation, we measured gene expression using RNA sequencing lymphoblastoid cell lines (LCLs) from 599 individuals six African populations identify novel transcripts including those not represented hg38 reference genome. We used whole genomes 1000 Genomes Project 164 Maasai 8,881 6,949 splicing quantitative trait loci (eQTLs/sQTLs), 2,611...
Abstract Telomere length (TL) is associated with numerous disease states and affected by genetic environmental factors. However, TL has been mostly studied in adult populations of European or Asian ancestry. These studies have identified 34 TL-associated variants recently used as proxies for TL. The generalizability these associations to pediatric racially diverse populations, specifically African ancestry, remains unclear. Furthermore, six novel a population children but not validated. We...
Despite the profound impacts of scientific research, few scientists have received necessary training to productively discuss ethical and societal implications their work. To address this critical gap, we-a group predominantly human genetics trainees-developed a course on genetics, ethics, society. We intend for serve as template other institutions disciplines. Our curriculum positions within its historical context encourages students evaluate how norms structures impact conduct research....
Abstract Introduction The Undiagnosed Diseases Network (UDN), a clinical research study funded by the National Institutes of Health, aims to provide answers for patients with undiagnosed conditions and generate knowledge about underlying disease mechanisms. UDN evaluations involve collaboration between clinicians researchers go beyond what is possible in settings. While medical outcomes have been explored, this first formal assessment patient caregiver experience. Methods We invited...