A5011562752- Genomics and Rare Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Single-cell and spatial transcriptomics
- Biochemical Analysis and Sensing Techniques
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Neuroscience and Neuropharmacology Research
- Neural dynamics and brain function
- Genetic factors in colorectal cancer
- Muscle Physiology and Disorders
- CRISPR and Genetic Engineering
- Neuroscience and Music Perception
- Genetic Neurodegenerative Diseases
- bioluminescence and chemiluminescence research
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Animal Behavior and Reproduction
- Cancer-related molecular mechanisms research
- Hearing Loss and Rehabilitation
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Nicotinic Acetylcholine Receptors Study
- Amphibian and Reptile Biology
- Cardiomyopathy and Myosin Studies
- Aquatic life and conservation
Illumina (United States)
2019-2024
Washington University in St. Louis
2024
University of Pittsburgh
2008-2023
Massachusetts Eye and Ear Infirmary
2014-2017
Center for the Neural Basis of Cognition
2011-2017
Harvard University
2014-2015
Carnegie Mellon University
2011
Eye and Ear Foundation
2009
Bucknell University
2006
Abstract Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the “diagnostic odyssey”. in resource-limited areas face even greater challenges—a definitive diagnosis may never be reached due difficulties gaining access clinicians, appropriate specialists, and diagnostic testing. Here, we report on a collaboration Illumina iHope Program Foundation for Children Californias Hospital Infantil de Las Californias, enable...
Sound processing in the cochlea is modulated by cholinergic efferent axons arising from medial olivocochlear neurons brainstem. These contact outer hair cells mature and inner during development activate nicotinic acetylcholine receptors composed of α9 α10 subunits. The subunit necessary for mediating effects on as genetic deletion results functional de-efferentation cochlea. Cholinergic modulation spontaneous cochlear activity before hearing onset important maturation central auditory...
The maturation of the brain involves coordinated expression thousands genes, proteins and regulatory elements over time. In sensory pathways, gene profiles are modified by age experience in a manner that differs between regions cell types. auditory system altricial animals, neuronal activity increases markedly after opening ear canals, initiating events culminate circuitry brain. This window provides unique opportunity to study how patterns onset through maturity. As tool for capturing these...
The use of whole-genome sequencing (WGS) has accelerated the pace gene discovery and highlighted need for open collaborative data sharing in search novel disease genes variants. GeneMatcher (GM) is designed to facilitate connections between researchers, clinicians, health-care providers, others help identification additional patients with variants same candidate genes. Illumina Clinical Services Laboratory offers a WGS test suspected rare undiagnosed genetic regularly submits potential GM...
There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) underserved individuals with signs or symptoms of rare diseases no testing. Here we describe the performance impact cGS 247 patients from three clinics Peru. Although had at least one test prior (70.9%), frequent was karyotyping (53.4%). diagnostic yield 54.3%, candidate variants reported an additional 22.3% patients. Clinical GS results...
Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with spectrum brain malformations. One these is <i>TUBB2A</i>-related tubulinopathy. Currently, there 9 reported individuals pathogenic within the <i>TUBB2A</i> gene, common manifestations including, but not limited to, global developmental delay, seizures, cortical dysplasia, and dysmorphic corpus callosum. We report 3 patients identified exome genome sequencing to have...
Current standards in clinical genetics recognize the need to establish validity of gene-disease relationships as a first step interpretation sequence variants. We describe our experience incorporating ClinGen Gene-Disease Clinical Validity framework and reporting workflow for genome sequencing (cGS) test individuals with rare undiagnosed genetic diseases. This “reactive” gene curation is completed upon identification candidate variants during active case analysis within turn-around time by...
Abstract Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree phenotypic homogeneity. LGMD is defined as having onset >2 years age progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to surge genes linked LGMD. Methods The ClinGen Muscular Dystrophies Myopathies gene curation expert panel (MDM GCEP,...
The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.
Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree phenotypic homogeneity. LGMD is defined as having onset >2 years age progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to surge genes linked LGMD.
Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with complex phenotype. Here we present child suspected leukodystrophy the context of additional features, including hearing loss, clinodactyly, rotated thumbs, tapered fingers, simplified palmar crease. Trio genome sequencing (GS) identified three molecular diagnoses this individual: compound heterozygous missense variants associated polymerase III (Pol III)–related...
Objectives: Pediatric intestinal pseudo-obstruction (PIPO) is a heterogeneous condition characterized by impaired gastrointestinal propulsion, broad clinical spectrum, and variable severity. Several molecular bases underlying primary PIPO have been identified, of which autosomal dominant ACTG2-related visceral myopathy the most common in both familial or sporadic cases. We present family with recessive disease parents mild symptoms sons severe bladder dysfunction. Methods: Clinical genome...
The use of whole-genome sequencing (WGS) has accelerated the pace gene discovery and highlighted need for open collaborative data sharing in search novel disease genes variants. GeneMatcher (GM) is designed to facilitate connections between researchers, clinicians, health-care providers others help identification additional patients with variants same candidate genes. Illumina Clinical Services Laboratory offers a WGS test suspected rare undiagnosed genetic regularly submits potential GM...
The medial nucleus of the trapezoid body (MNTB) in auditory brainstem is principal source synaptic inhibition to several functionally distinct nuclei. Prominent projections individual MNTB neurons comprise major binaural nuclei that are involved early processing stages sound localization as well superior paraolivary (SPON), which contains monaural extract rapid changes intensity detect gaps and rhythmic oscillations commonly occur animal calls human speech. While processes guide development...