CADASIL is a single gene disorder
caused by mutations on the Notch 3 gene.
Pakistan has a population of over 170 million and it contains a huge burden of hereditary hemoglobin disorders.1 Thalassemia syndromes are the most common single gene disorder
throughout the world and have a carrier rate of 3%.
Combined Factor V and FVIII deficiency has an autosomal recessive inheritance and this condition is related with single gene disorder
. Combined Factor V and FVIII deficiency occurs as a result of mutation in two different genes including lectin mannose binding protein 1 (LAMN1) (its other name is endoplasmic reticulum and golgi intermediate compartment protein (ERGIC) and multiple coagulation factor deficiency 2 (MCFD2).
If your child had cystic fibrosis, a single gene disorder
, would you like to use some genetic tool to remove the faulty gene?"
The findings in Timothy syndrome patient iPSCs follow those in Rett syndrome, another single gene disorder
that often includes autism-like symptoms.
It is not surprising that thalassaemia is the most common single gene disorder
found in their descendents in Natal.
For example, results of a test for a single gene disorder
might uncover a previously unknown change in the child's DNA.
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.
A further pounds 2.5m 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.
As the precision of non-invasive prenatal screening using SNP technology has narrowed in on CNVs, this screening can then focus even further to single gene disorders
Single gene disorders
, such as cystic fibrosis, haemophilia, Huntington's disease and muscular dystrophy, can be detected using CVS.
In addition to the above single gene disorders
leading to proteinuric disorders, many common genetic polymorphisms have been found to predispose to disease, alter its course, response to treatment or rate of progression to ESRD.