Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
    Users Online: 200
Home Print this page Email this page Small font size Default font size Increase font size
REVIEW ARTICLE
Year : 2016  |  Volume : 5  |  Issue : 3  |  Page : 105-117

An overview of rare genetic disorders and recent diagnostic approaches


Genetics Laboratory, Faculty of Allied Health Sciences, Chettinad Academy of Research and Education, Chennai, Tamil Nadu, India

Correspondence Address:
V Ramakrishnan
Faculty of Allied Health Sciences, Chettinad Academy of Research and Education, Chettinad Health City, Kelambakkam - 603 103, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2278-0521.195812

Rights and Permissions

Genetic disorders are the leading causes of mortality and morbidity in humans. The prevalence of genetic diseases varies widely between different clusters depending on their organization, reproductive practices, and various other sociocultural factors. These disorders are mainly caused by mutations in monogenic, polygenic or the combination of gene mutations, consanguineous marriage practices, and environmental factors leading to damage of chromosomes. Nearly 7000 different types of rare genetic diseases/disorders are being discovered frequently. Cytogenetic and molecular techniques have been widely implicated to detect variations in the chromosomes and in genes. Several innovative and extremely robust methods for sequencing the nucleic acids such as next-generation sequencing have become available in the past few years for diagnosing chromosomal and genetic disorders. We have summarized the rare genetic disorders, their cytogenetic location, candidate genes, novel mutations identified, and advanced diagnostic tools that are currently being used for rapid detection of these abnormalities. The application of advanced technologies is rapidly changing the background of genetic research and also in clinical practice. The identification of novel disease-causing genes, mutations, and predisposing genetic variants data is getting into accelerated. The availability of huge genetic information will uphold a better indulgent of genetic disease etiology, permit early, even per-symptomatic diagnosis, and preventive measures to avoid the onset of the disease. This review will make clinicians/pediatricians to classify rare disorders with their genes responsible, leading for accurate genetic diagnosis.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1710    
    Printed25    
    Emailed0    
    PDF Downloaded206    
    Comments [Add]    

Recommend this journal