Therapeutic strategies for spinal muscular atrophy

A Biological & Medical Sciences project

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Spinal muscular atrophy (SMA) is a genetic disorder resulting
from defective production of a protein called Survival Motor Neuron, causing
damage to the motor neurons that control muscles needed for basic functions
such as breathing, swallowing and walking, leading to muscle weakness and loss.
The objective of this project is to use genetic modification technology to
understand fundamental processes occurring in motor neurons, allowing us to
understand how these processes go awry in SMA and how these might be treated
using delivery of functional genes to the motor neurons. This objective will be
carried out using viral vector technology, which are viruses derived from HIV
with all disease-causing genes removed and without the ability to permanently
insert themselves into the cell’s genetic material. This means that these
viruses can then safely deliver genetic material to the motor neurons. This
project will further develop viral vector technology with the aim of delivering
the gene Survival Motor Neuron 1 to both cells grown in a laboratory
environment and fetal mice. Genome editing (the inventors of which received the
2007 Nobel Prize in Physiology and Medicine) via a bacterial editing system
known as CRISPR-Cas will also be used to inactivate another protein that
accumulates in cells affected by SMA, causing further problems to these cells.
These objectives will elucidate further information that is necessary for the
next step using this tecnhology. This next step involves translation of this
information into therapeutic strategies which can be used in a clinical setting
to treat SMA.

Ellie Crompton

Academic Institution: Royal Holloway, University of London
Course: PhD Biology, 2017-2021
User Profile:Ellie Crompton

What is your motivation for doing a PhD?

Research into new subjects is really exciting and feeds my curiosity

Why did you choose your research topic/title

I really want to research new treatments for a rare genetic disease!

Your achievments

1) Achieving first class honours in my undergraduate degree. 2) Presenting my own project research at a meeting of the London Cardiovascular Society. 3) Publishing my research in a well-respected American medical journal. 4) Volunteering as much as possible at events like Rare Disease Day and Science Festival whilst at university

What difference will this research make in your life and the lives of others?

If successful, my research could lead to the development of a new and improved genetic drug, similar to one currently in clinical trials, to improve survival and quality of life in children suffering from spinal muscular atrophy. In my own life, my research will help to expand my scientific knowledge and make me more determined to find ways to help those around me.

Therapeutic strategies for spinal muscular atrophy

A Biological & Medical Sciences project

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Therapeutic strategies for spinal muscular atrophy

A Biological & Medical Sciences project

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