Literature DB >> 25261319

A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Ghunwa Nakouzi1, Khalil Kreidieh, Soha Yazbek.   

Abstract

The review lists the genetic diseases reported in Lebanese individuals, surveys genetic programs and services, and highlights the absence of basic genetic health services at the individual and community level. The incidence of individual diseases is not determined, yet the variety of genetic diseases reported is tremendous, most of which follow autosomal recessive inheritance reflecting the social norms in the population, including high rates of consanguinity, which favor the increase in incidence of these diseases. Genetic services including all activities for the diagnosis, care, and prevention of genetic diseases at community level are extremely inadequate. Services are limited to some clinical and laboratory diagnostic services with no genetic counseling. These services are localized within the capital thus preventing their accessibility to high-risk communities. Screening programs, which are at the core of public health prevention services, are minimal and not nationally mandated. The absence of adequate genetic services is attributed to many factors undermining the importance of genetic diseases and their burden on society, the most important of which is genetic illiteracy at all levels of the population, including high-risk families, the general public, and most importantly health care providers and public health officials. Thus, a country like Lebanon, where genetic diseases are expected to be highly prevalent, is in utmost need for community genetics services. Strategies need to be developed to familiarize public health officials and medical professionals with medical genetics leading to a public health infrastructure that delivers community genetics services for the prevention and care of genetic disorders at community level.

Entities:  

Year:  2014        PMID: 25261319      PMCID: PMC4286563          DOI: 10.1007/s12687-014-0203-3

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  183 in total

1.  Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

Authors:  S Corbani; E Chouery; J Fayyad; A Fawaz; O El Tourjuman; C Badens; C Lacoste; V Delague; A Megarbane
Journal:  J Intellect Disabil Res       Date:  2011-09-29

2.  Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Authors:  Caroline Lefèvre; Bakar Bouadjar; Véronique Ferrand; Gianluca Tadini; André Mégarbané; Mark Lathrop; Jean-François Prud'homme; Judith Fischer
Journal:  Hum Mol Genet       Date:  2006-01-25       Impact factor: 6.150

3.  A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes.

Authors:  André Mégarbané; Eliane Chouery; Ismat Ghanem
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

4.  Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.

Authors:  E I Traboulsi; B M Faris; V M Der Kaloustian
Journal:  Am J Med Genet       Date:  1986-05

5.  Collodion babies with Gaucher's disease.

Authors:  K Lui; C Commens; R Choong; R Jaworski
Journal:  Arch Dis Child       Date:  1988-07       Impact factor: 3.791

6.  Ocular findings in the candidiasis-endocrinopathy syndrome.

Authors:  E I Traboulsi; D T Azar; N Jarudi; V M Der Kaloustian
Journal:  Am J Ophthalmol       Date:  1985-04-15       Impact factor: 5.258

7.  Metaphyseal dysplasia-Bellini type. Report of two cases.

Authors:  K Kozlowski; F Beemer; A Lipson; M Bellemore
Journal:  Radiol Med       Date:  1995-03       Impact factor: 3.469

Review 8.  The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

Authors:  Joël Zlotogora
Journal:  Hum Genet       Date:  2010-09-18       Impact factor: 4.132

9.  Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg.

Authors:  M Lindner; G Abdoh; J Fang-Hoffmann; N Shabeck; M Al-Sayrafi; M Al-Janahi; S Ho; M O Abdelrahman; T Ben-Omran; A Bener; A Schulze; H Al-Rifai; G Al-Thani; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2007-05-12       Impact factor: 4.982

10.  A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

Authors:  Jean-Pierre de Villartay; Annick Lim; Hamoud Al-Mousa; Sophie Dupont; Julie Déchanet-Merville; Edith Coumau-Gatbois; Marie-Lise Gougeon; Arnaud Lemainque; Céline Eidenschenk; Emmanuelle Jouanguy; Laurent Abel; Jean-Laurent Casanova; Alain Fischer; Françoise Le Deist
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

View more
  5 in total

1.  Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.

Authors:  Marc Haber; Claude Doumet-Serhal; Christiana Scheib; Yali Xue; Petr Danecek; Massimo Mezzavilla; Sonia Youhanna; Rui Martiniano; Javier Prado-Martinez; Michał Szpak; Elizabeth Matisoo-Smith; Holger Schutkowski; Richard Mikulski; Pierre Zalloua; Toomas Kivisild; Chris Tyler-Smith
Journal:  Am J Hum Genet       Date:  2017-07-27       Impact factor: 11.025

2.  Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.

Authors:  Lama Jaffal; Wissam H Joumaa; Alexandre Assi; Charles Helou; Christel Condroyer; Maya El Dor; Georges Cherfan; Christina Zeitz; Isabelle Audo; Kazem Zibara; Said El Shamieh
Journal:  Genes (Basel)       Date:  2019-02-18       Impact factor: 4.096

3.  DALIA- a comprehensive resource of Disease Alleles in Arab population.

Authors:  Aastha Vatsyayan; Parul Sharma; Shrey Gupta; Sumiti Sandhu; Seetha Lakshmi Venu; Vandana Sharma; Bouabid Badaoui; Kaidi Azedine; Serti Youssef; Anna Rajab; Alaaeldin Fayez; Seema Madinur; Anop Ranawat; Kavita Pandhare; Srinivasan Ramachandran; Sridhar Sivasubbu; Vinod Scaria
Journal:  PLoS One       Date:  2021-01-13       Impact factor: 3.240

Review 4.  Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Authors:  Sami Bizzari; Pratibha Nair; Asha Deepthi; Sayeeda Hana; Mahmoud Taleb Al-Ali; André Megarbané; Stephany El-Hayek
Journal:  Genes (Basel)       Date:  2021-09-27       Impact factor: 4.096

5.  Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Authors:  Pratibha Nair; Sandra Sabbagh; Hicham Mansour; Ali Fawaz; Ghassan Hmaimess; Peter Noun; Rawane Dagher; Hala Megarbane; Sayeeda Hana; Saada Alame; Maher Lamaa; Dana Hasbini; Roula Farah; Mariam Rajab; Samantha Stora; Oulfat El-Tourjuman; Pauline Abou Jaoude; Gihad Chalouhi; Rony Sayad; Anne-Celine Gillart; Mahmoud Al-Ali; Valerie Delague; Stephany El-Hayek; André Mégarbané
Journal:  Mol Genet Genomic Med       Date:  2018-10-07       Impact factor: 2.183

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.