Miguel Verbitsky
A5028201197- Renal and related cancers
- Parkinson's Disease Mechanisms and Treatments
- Nicotinic Acetylcholine Receptors Study
- Receptor Mechanisms and Signaling
- Pediatric Urology and Nephrology Studies
- Genomic variations and chromosomal abnormalities
- Renal Diseases and Glomerulopathies
- Ion channel regulation and function
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Neuroscience and Neuropharmacology Research
- BRCA gene mutations in cancer
- Autism Spectrum Disorder Research
- Urological Disorders and Treatments
- Chronic Kidney Disease and Diabetes
- Prenatal Screening and Diagnostics
- Ginkgo biloba and Cashew Applications
- Genetic Associations and Epidemiology
- Neuropeptides and Animal Physiology
- Lysosomal Storage Disorders Research
- Nuclear Receptors and Signaling
- Neurological disorders and treatments
- Gene expression and cancer classification
- Cancer Genomics and Diagnostics
Columbia University
2014-2025
Columbia University Irving Medical Center
2012-2024
University of Genoa
2023
Istituto Giannina Gaslini
2023
Morgan Stanley Children's Hospital
2023
Center for Human Genetics
2010
Clark Art Institute
2009
Icahn School of Medicine at Mount Sinai
2007
New York Genome Center
2004-2005
Experimental Medicine and Biology Institute
2000-2005
To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD).We administered a neuropsychological battery and University Pennsylvania Smell Identification Test (UPSIT) to participants in CORE-PD study who were tested for mutations PARKIN, LRRK2, GBA. Participants included 33 GBA 60 noncarriers any genetic mutation. Primary analyses performed on 26 heterozygous without additional 39 age- PD duration-matched noncarriers. Five domains,...
Background: The utility of whole-exome sequencing (WES) for the diagnosis and management adult-onset constitutional disorders has not been adequately studied. Genetic diagnostics may be advantageous in adults with chronic kidney disease (CKD), whom cause failure often remains unknown. Objective: To study diagnostic WES a selected referral population CKD. Design: Observational cohort. Setting: A major academic medical center. Patients: 92 CKD unknown or familial nephropathy hypertension....
<h3>Background</h3> Mutations in the glucocerebrosidase (<i>GBA</i>) gene are associated with Lewy body (LB) disorders. <h3>Objective</h3> To determine relationship of<i>GBA</i>mutations and<i>APOE4</i>genotype to LB and Alzheimer disease (AD) pathological findings. <h3>Design</h3> Case-control study. <h3>Setting</h3> Academic research. <h3>Participants</h3> The 187 subjects included patients primary neuropathological diagnoses of disorders or without AD changes (95 cases), randomly selected...
Abstract Background To date, nine Parkinson disease (PD) genome-wide association studies in North American, European and Asian populations have been published. The majority of confirmed the previously identified genetic risk factors, SNCA MAPT , two three new PD susceptibility loci/genes ( PARK16, BST1 HLA-DRB5 ). In a recent meta-analysis datasets from five published GWAS an additional 6 novel candidate genes SYT11, ACMSD, STK39, MCCC1/LAMP3, GAK CCDC62/HIP1R ) were identified. Collectively...
The full complement of molecular pathways contributing to the pathogenesis Parkinson disease (PD) remains unknown. Here we address this issue by taking a broad approach, beginning using functional MRI identify brainstem regions differentially affected and resistant disease. Relying on these imaging findings, then profiled gene expression levels from postmortem regions, identifying disease-related decrease in catabolic polyamine enzyme spermidine/spermine N1-acetyltransferase 1 (SAT1). Next,...
<h3>Objective</h3> To assess the frequency and clinical characteristics of carriers previously identified mutations in 6 genes associated with early-onset Parkinson disease (PD) provide empirical data that can be used to inform genetic counseling. <h3>Design</h3> Cross-sectional observational study. <h3>Setting</h3> Thirteen movement disorders centers. <h3>Patients</h3> Nine hundred fifty-three individuals PD defined as age at onset (AAO) younger than 51 years. Participants included 77 139...
The DiGeorge syndrome, the most common of microdeletion syndromes, affects multiple organs, including heart, nervous system, and kidney. It is caused by deletions on chromosome 22q11.2; genetic driver kidney defects unknown.
Congenital abnormalities of the kidney and urinary tract are most common cause pediatric failure. These disorders highly heterogeneous, etiologic factors poorly understood.We performed genomewide linkage analysis whole-exome sequencing in a family with an autosomal dominant form congenital or (seven affected members). We also sequence 311 unrelated patients, as well histologic functional studies.Linkage identified five regions genome that were shared among all members. Exome single, rare,...
African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play major role this disparity. While 13% carry high-risk recessive genotypes, only fraction these individuals develops FSGS or failure, indicating involvement additional disease modifiers. Here, we show that presence p.N264K missense variant, when co-inherited with G2 allele,...
We have carried out a global survey of age-related changes in mRNA levels the C57BL/6NIA mouse hippocampus and found difference hippocampal gene expression profile between 2-month-old young mice 15-month-old middle-aged correlated with an cognitive deficit hippocampal-based explicit memory formation. Middle-aged displayed mild but specific spatial Morris water maze. By using Affymetrix GeneChip microarrays, we distinct pattern change, consisting mostly overexpression mice, suggesting that...
<h3>Background</h3> Mutations in the<i>parkin</i>gene are the most common genetic cause of early-onset Parkinson disease (PD). Results from a multicenter study patients with PD systematically sampled by age at onset have not been reported to date. <h3>Objective</h3> To determine risk factors associated carrying<i>parkin</i>mutations. <h3>Design</h3> Cross-sectional observational study. <h3>Setting</h3> Thirteen movement disorders centers. <h3>Participants</h3> A total 956 PD, defined as...
There is frequent uncertainty in the identification of specific etiologies chronic kidney disease (CKD) children. Recent studies indicate that chromosomal microarrays can identify rare genomic imbalances clarify etiology neurodevelopmental and cardiac disorders children; however, contribution unsuspected imbalance to incidence pediatric CKD unknown.We performed detect children enrolled Chronic Kidney Disease Children (CKiD) prospective cohort study, a longitudinal multiethnic observational...
Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood and underdiagnosed of chronic bladder/pelvic with urinary frequency urgency. Though IC/BPS can be hereditary, little known its genetic etiology. Using the eMERGE data, we confirmed phenotypic associations such as gastroesophageal reflux disease irritable bowel detected new associations, including osteoarthrosis/osteoarthritis Barretts esophagus. An exome wide ultra-rare variants analysis in 348 11,981 controls...
In the present study, we provide evidence that α9 nicotinic acetylcholine receptor (nAChR) shares pharmacological properties with members of Cys-loop family receptors. Thus, type A γ-aminobutyric acid antagonist bicuculline, glycinergic strychnine, and 3 serotonin ICS-205,930 block ACh-evoked currents in α9-injected <i>Xenopus laevis</i> oocytes following rank order potency: strychnine > bicuculline. Block by antagonists was reflected an increase (ACh) EC<sub>50</sub> value, no changes...
Background: A family history of health conditions may reflect shared genetic and/or environmental risk. It is not well known to what extent impacts outcomes among patients with chronic kidney disease (CKD). Herein, we studied the associations CKD, diabetes, and other common comorbidities progression CKD. Methods: We carried out an observational study two prospective CKD cohorts, 2,573 adults children from Cure Glomerulopathy Network (CureGN) 3,939 Chronic Renal Insufficiency Cohort (CRIC)...
Aberrant O-glycosylation of the IgA1 hinge region is a characteristic finding in patients with IgA nephropathy (IgAN) and thought to contribute immune-complex formation kidney injury. Other studies have suggested that abnormalities mucosal immunity lymphocyte homing are major contributors disease. We identified family IgAN segregating heterozygous predicted loss-of-function (LOF) variant GALNT14, gene encoding N-acetylgalactosaminyltransferase 14, one enzymes involved mucin-type protein...