A5079486496- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Neurological disorders and treatments
- DNA Repair Mechanisms
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
- Health and Lifestyle Studies
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Parkinson's Disease Mechanisms and Treatments
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Folate and B Vitamins Research
- Cellular transport and secretion
- Vitamin C and Antioxidants Research
- Cuban History and Society
- Skin and Cellular Biology Research
- Calpain Protease Function and Regulation
- Colorectal Cancer Treatments and Studies
- Vitamin D Research Studies
- Public Health and Social Inequalities
- Digestive system and related health
- Hearing, Cochlea, Tinnitus, Genetics
McGill University
2023-2025
Jewish General Hospital
2023-2024
Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean
2016-2023
McGill University Health Centre
2023
Predict (France)
2013
University of Holguín
2010-2013
Tatton-Brown-Rahman syndrome (TBRS) was recently described in 13 isolated cases with de novo mutations the DNMT3A gene. This autosomal dominant condition is characterized by tall stature, intellectual disability and a distinctive facial appearance. Here, we report six of inherited TBRS caused novel germline mutations. The affected individuals belong to two sib-ships: four from an Old Order Amish family America French Canadian Canada. All them presented characteristic features TBRS, including...
Rapid eye movement (REM) sleep disorders are commonly associated to patients with spinocerebellar ataxia type 2 (SCA2); however, these abnormalities have not been studied in presymptomatic gene carriers. To determine whether the REM pathology is detectable before clinical manifestation of SCA2 and evaluate it as a preclinical biomarker, we 36 individuals controls by video-polysomnography (VPSG) questionnaires. Presymptomatic subjects showed significant decrease percentage, REMs density,...
Abstract The presence of multiple pathogenic variants in desmosomal genes ( DSC2 , DSG2 DSP JUP and PKP2 ) patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity is reclassified frequently, which may result changed clinical risk prediction. Here, we present collection, reclassification, outcome correlation for largest series ARVC carrying date n = 331). After only 29% remained carriers two (likely) variants. They...
Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for predictive testing this condition. Between February 2001 and December 2011, total 1050 individuals requested their inclusion presymptomatic (PST) program. Their medical records were retrospectively analyzed present descriptive study. A 768 participants completed protocol, 204 withdrew 78 excluded. The PST uptake was 24.91%. Females predominated 70.96%...
Predictive testing protocols are intended to help patients affected with hereditary conditions understand their condition and make informed reproductive choices. However, predictive may expose clinicians ethical dilemmas that interfere genetic counseling the decision making process. This paper describes in a series of five cases involving for ataxias Cuba. The examples herein present evidence deeply controversial situations faced by both individuals at risk professionals charge these...
Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in ATXN3 gene. It most common autosomal dominant ataxia world, but its frequency prevalence Cuba remains uncertain. We undertook national study order to characterize gene and determine SCA3/MJD Cuba.Twenty-two individuals belonging 8 non-related families were identified as carriers an expanded allele. The affected come central western region...
Medical genetic services are facing an unprecedented demand for counseling and testing hereditary breast ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, collaborative oncogenetic model was recently developed implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present protocol C-MOnGene (Collaborative Model OncoGenetics) study, funded to examine which document lessons that can be learned optimize delivery services. Within three...
Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene essential for vitamin D activation. Although VDDR1A condition worldwide, its prevalence high Saguenay-Lac-Saint-Jean (SLSJ) region due to founder effect. Daily intake of calcitriol before onset clinical manifestations can prevent them affected children.A genetic screening test was developed and validated c.262del variant. Newborn implemented SLSJ...
In 2001 a program for predictive testing of Spinocerebellar Ataxia type 2 was developed in Cuba, based on the detection an abnormal CAG trinucleotide repeat expansion ATXN2 gene. A descriptive study designed to assess implications large normal and intermediate alleles context SCA2 Prenatal Diagnosis Program. Four clinical scenarios were selected upon behaviour when passing from one generation next, showing expansions, contractions, or stability size. some populations, traditional Mendelian...
Abstract Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS resulting from mutations keratin 5 ( KRT5) and 14 KRT14) genes encoding the keratins proteins expressed keratinocytes of basal layer epidermis. To date, seven pathogenic have been reported to be responsible for Canadian population province Quebec: p.Pro25Leu, p.Leu150Pro, p.Met327Thr p.Arg559X KRT5 ; p.Arg125Ser, p.Ile377Thr p.Ile412Phe KRT14 . Here, we present novel...