single gene disorder

single gene disorder

A hereditary disorder caused by a mutant allele of a single gene—e.g., achondroplastic dwarfism, autosomal dominant polycystic kidney disease, cystic fibrosis, Duchenne muscular dystrophy, familial polyposis coli, haemophilia, Huntington’s disease, retinoblastoma, sickle cell disease, etc.
References in periodicals archive ?
The research and validation behind the FEC's single gene disorder (SGD) preimplantatation genetic diagnosis (PGD) test, IdentifySGD, was published by Fertility and Sterility, the American Society of Reproductive Medicine's prestigious scientific journal, in October.
It is not surprising that thalassaemia is the most common single gene disorder found in their descendents in Natal.
The most common single gene disorder in India was beta thallassemia and Dr Verma was drawn to the idea of reducing the number of children born with this problem.
5m is expected to be made available over five years to support gene therapy research for cystic fibrosis which is the most common single gene disorder in the UK.
NeoGenomics' laboratory will perform such evaluations, by single gene disorder testing, carrier testing, and more.
Overall, hundreds of thousands of Americans are impacted by one of the three conditions, and researchers from around the world are actively engaged in studies of this single gene disorder.
In principle, we know a single gene disorder can be treated by replacing a defective gene," said Paul D.
Fertile couples with a high risk of transmitting the single gene disorder cystic fibrosis are being qualified for enrollment in the first project to begin later this month.
The inherited hemoglobin disorders are the commonest single gene disorders in India.
Single gene disorders, such as cystic fibrosis, haemophilia, Huntington's chorea and muscular dystrophy can be detected using it, too.
Setting up a National Referral Centre for single gene disorders viz.
We also had to choose between screening the embryos for abnormalities of chromosomal number like Down syndrome and screening for single gene disorders like Tay-Sachs.

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