Lebanon has a high incidence of common and rare genetic diseases, due probably to the mosaic different ethnic origins and the high rate of consanguineous marriages in certain communities. Two major investigations, exploring the genetic structure of the Lebanese population, indicated the population to be caucasiods (though Oriental traits were found). These investigations involved studies of dermatoglyphics, and type and distribution of genetic markers and protein variants. Recorded genetic diseases, some characteristic of ethnic group or particular to a geographic region include familial paroxysmal polyserositis, familial hypercholesterolemia, hypothroidism, the Dyggve-Melchoir-Clausen syndrome, Sandhoff disease, and various genetic hematologic diseases. Genetic counseling and care to patients with genetic diseases is available in Beirut from the Faculty of Medicine at American University and St. Joseph University. Also, the Lebanese National Council for Scientific Research initiates and finances medical genetics programs.
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http://dx.doi.org/10.1002/ajmg.1320070212 | DOI Listing |
J Am Coll Cardiol
March 2025
Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada; Cardiovascular Genetics Centre, Montreal Heart Institute, Montreal, Quebec, Canada. Electronic address:
Background: The clinical impact of genetic testing in a contemporary real-life cohort of patients with heritable cardiomyopathies or arrhythmias is not well defined. Additionally, the genetic spectrum of these conditions in the French-Canadian population is unknown, and interpretation of genetic variants can be challenging because of a known founder effect.
Objectives: This study sought to evaluate the clinical utility of arrhythmia and cardiomyopathy genetic testing and assess the utility of allele frequency data from a local reference population.
J Am Coll Cardiol
March 2025
National Amyloidosis Centre, University College London, Royal Free Hospital, London, United Kingdom.
Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed chronic disease associated with progressive heart failure that results in impaired quality of life, repeated hospitalizations, and premature death. Acoramidis is a selective, oral transthyretin stabilizer recently approved by the U.S.
View Article and Find Full Text PDFJ Genet Eng Biotechnol
March 2025
Human Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Egypt.
Introduction: The fluorescence in situ hybridization (FISH) is a very important technique, as it can diagnose many genetic disorders and cancers. Molecular cytogenetic analysis (FISH) can diagnose numerical chromosome aberrations, sex chromosomes anomalies, and many genetic disorders.
Aim: With the limited number of commercially available probes that do not cover all research needs and the high prices of the commercial probes, our goal is to apply recent technologies to produce FISH probes that can accurately and sensitively diagnose genetic diseases and cancer in Egypt and establishing the inhouse production of different FISH probes.
J Genet Eng Biotechnol
March 2025
Department of Bioinformatics, Pharmacogenomics and CADD Lab, Alagappa University, Karaikudi, Tamil Nadu, India. Electronic address:
Hypertension is the foremost modifiable risk factor for cardiovascular and renal diseases, and overall mortality on a global scale. Genetic variants have the potential to alter an individual's drug responses. In the present study, we employed a comprehensive computational analysis to evaluate the structural and functional implications of deleterious missense variants to examine the influence of RAAS genes such as AT1R, AT2R, and MasR on susceptibility to hypertension.
View Article and Find Full Text PDFAnn Vasc Surg
April 2025
Department of Cardiology, Dongying People's Hospital (Dongying Hospital of Shandong Provincial Hospital Group), Dongying, China. Electronic address:
Background: Venous thromboembolism (VTE), including pulmonary embolism (PE) and deep vein thrombosis (DVT), is the third most common cardiovascular disease. A low amount of mitochondrial DNA copy number (mtDNA-CN) reflects mitochondrial dysfunctions and has been associations with arterial cardiovascular diseases. However, the role of mtDNA-CN in venous cardiovascular disease was unclear.
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