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Abstract

April-June 2016 | Vol. 9 | Issue 2 | Page No 30-31
Therapy for genetic disorders: How far have we come
Dhanya Lakshmi
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: dhanyalakshmi@gmail.com
 
Abstract
Achondroplasia is the most common chondrodysplasia in humans. Gain of function mutation in the FGFR3 causes achondroplasia. FGFR3 is a receptor tyrosine kinase, which negatively regulates growth plate activity, leading to short stature. C Natriuretic Peptide (CNP) was identified as an antagonist of fgfr3 in mouse models. CNP has a low plasma half life and hence a synthetic analogue, BMN111 was developed. BMN111 (Vosoritide) is the only candidate therapy to enter clinical trial. Recently the data of treatment of 26 children with a dosage of 15micro g/kg/ day for 6 months was released. Ten children showed 50% increase in annual growth velocity compared to their pretreatment rate. Only mild adverse effects like head ache,
 
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