Brent L. Fogel
A5066130759- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Ubiquitin and proteasome pathways
- Genetic factors in colorectal cancer
- Cellular transport and secretion
- Neurogenetic and Muscular Disorders Research
- Lysosomal Storage Disorders Research
- Congenital heart defects research
- RNA and protein synthesis mechanisms
- Amyotrophic Lateral Sclerosis Research
- Neurological diseases and metabolism
- Glycogen Storage Diseases and Myoclonus
- Endoplasmic Reticulum Stress and Disease
- Hereditary Neurological Disorders
- Retinal Development and Disorders
University of California, Los Angeles
2016-2025
UCLA Health
2013-2025
University of California System
2022-2023
NYU Langone Health
2022
University Medical Center
2022
University of Utah
2021
University of Chicago
2019-2020
Harvard University
2020
Murdoch Children's Research Institute
2020
Tel Aviv University
2018-2020
Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders.To report on initial clinical indications CES referrals and rates different types.Clinical was performed 814 consecutive patients undiagnosed, suspected conditions at the University of California, Los Angeles, Genomics Center between January 2012 August 2014. conducted as trio-CES (both parents their affected child sequenced simultaneously) to effectively detect...
<h3>Importance</h3> Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions. Numerous have been associated chronic progressive ataxia and this consequently presents diagnostic challenge for the clinician regarding how approach prioritize testing in patients such clinically heterogeneous phenotypes. Additionally, while value early-onset and/or familial cases seems clear, many present sporadically adult...
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded sequences in NGS data. We performed genetic studies cohort 35 individuals from 22 families with diagnosis cerebellar ataxia neuropathy bilateral vestibular...
The diagnosis of Parkinson's disease (PD) and atypical parkinsonian syndromes is difficult due to the lack reliable, easily accessible biomarkers. Multiple system atrophy (MSA) a synucleinopathy whose symptoms often overlap with PD. Exosomes isolated from blood by immunoprecipitation using CNS markers provide window into brain's biochemistry may assist in distinguishing between PD MSA. Thus, we asked whether α-synuclein (α-syn) such exosomes could distinguish among healthy individuals,...
RNA splicing plays a critical role in the programming of neuronal differentiation and, consequently, normal human neurodevelopment, and its disruption may underlie neurodevelopmental neuropsychiatric disorders. The RNA-binding protein, fox-1 homolog (RBFOX1; also termed A2BP1 or FOX1), is neuron-specific factor predicted to regulate networks clinically implicated disease, including autism spectrum disorder (ASD), but only few targets have been experimentally identified. We used sequencing...
To determine whether recombinant human granulocyte colony-stimulating factor (rhG-CSF) can accelerate recovery after high-dose combination chemotherapy with autologous bone marrow transplantation (ABMT) in patients Hodgkin's disease, we performed a nonrandomized phase II study using historical controls as comparison. Eighteen relapsed/refractory disease who received cyclophosphamide at 1.5 g/m2/day (days -6 to -3), carmustine (BCNU) 300 mg/m2 (day -6), and etoposide (VP-16) 125 every 12...
Abstract Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central nervous systems are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis enable future evaluation of therapeutic strategies, we conducted a multinational study natural history imaging features APBD. Methods: We...
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities suspected diagnosis leukodystrophy or genetic leukoencephalopathy. WES analyses were performed trio, greater, family groups. Diagnostic pathogenic variants identified in 35% (25 71) patients. Potentially clinically relevant genes further 7% (5 cases, giving total yield clinical diagnoses 42% individuals. These findings provide evidence that can substantially decrease...
Abstract Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at presentation, evolving through a caudocranial pattern into generalized dystonia, prominent oromandibular, laryngeal cervical involvement. Although KMT2B-related is emerging as one the most common causes early-onset genetic much remains to be understood about full spectrum disease. We describe cohort...
Abstract Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with rare neurodevelopmental disorder structural brain anomalies facial dysmorphism. We investigated cohort 10 unrelated participants presenting global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures musculoskeletal abnormalities. MRI revealed complex pattern...
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...
Abstract Parkinson’s disease (PD), the second most common neurodegenerative disorder, develops sporadically, likely through a combination of polygenic and environmental factors. Previous studies associate pesticide exposure genes involved in lysosomal function with PD risk. We evaluated frequency variants among patients from Parkinson’s, Environment, Genes (PEG) study ambient agricultural sources. 757 patients, primarily White European/non-Hispanic ancestry (75%), were screened for 85 using...