Let's focus on what we can do!

By Disabled People for Disabled People

Let's focus on what we can do, not what we can't!

Online Platform By Disabled People for Disabled People

Let's focus on what we can do, not what we can't!

Online Platform By Disabled People for Disabled People

  • Home
  • >
  • Latest Headlines
  • >
  • University of Oxford: First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford – India Education Diary

University of Oxford: First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford – India Education Diary

Friday, 18 March, 2022

University of Oxford: First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford – India Education Diary


Oxford University is initiating a population-based newborn screening study in the Thames Valley. This study aims to make it possible to detect SMA within days of birth, before symptoms develop, so that any affected newborn can receive diagnosis and treatment at the earliest possible opportunity. It is hoped that it will pave the way for a national newborn screening that will save about 70 babies each year in the UK from disability.
Spinal muscular atrophy (SMA) is a rare, but treatable, genetic disease affecting approximately 1 in 10,000 births, and it typically presents in infancy and early childhood. SMA is caused when part of a gene is found to be missing (deletions) or disrupted (mutations). This gene is called survival motor neuron 1 (SMN1), which is important to maintain motor neurons (nerve cells). SMA progressively, and irreversibly, destroys the nerve cells in the brain and spinal cord, that control movement. This leads to progressive and irreversible muscle weakness.
Read more at: https://indiaeducationdiary.in/university-of-oxford-first-uk-pilot-study-of-newborn-screening-for-spinal-muscular-atrophy-launched-in-oxford/

Categories :
  • Latest Headlines
  • Spinal muscular atrophy
Socials :

Recent posts