Rebecca Ellis

Rebecca's fundraiser for University of Sheffield

Fundraising for University of Sheffield
£1,853
raised of £1,000 target
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University of Sheffield

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Hi, I’m Harry’s mum and I’m trying to raise as much money as possible to help fund research into Harry’s genetic condition. He has a rare condition called NBAS which is a life limiting condition and causes him to have a small stature, visual impairment, a weakened immune system, to go into liver failure, he also has autism and type 1 diabetes. The genetic team needs funds to continue their research into NBAS, which could potentially lengthen the lives of children with this condition and hopefully one day cure them. Here are a few words from Harry’s geneticist

Meena Balasubramanian, Clinician looking after HarryChildren like Harry who carry mistakes in a gene known as NBAS are subjected to a lifetime of recurrent fractures, repeated episodes of liver failure needing recurrent hospital admissions and immune deficiency. Developing druggable targets to progress towards making this condition better would have a positive impact on quality of life for children with this condition.We were the first international group to describe the role of NBAS in causing fractures and published this study in 2017. Since then, I have been working in the lab on a study designed to investigate why faults in the NBAS gene cause their clinical features, this is something we do not understand at present. By working out what goes wrong in this condition, I hope to find new treatments to make this condition better for children like Harry. Funds raised for NBAS research will help me progress with this work in my lab by conducting experiments to see how cells function when NBAS is removed. I have also generated two types of zebrafish models which can be utilised to see how we can reverse the condition and move things forward with new therapies.Ultimately, my aim would be to develop gene-directed therapies to cure this condition.

Thank you so much to everyone who makes a donation , any donations are greatly appreciated.

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About the charity

University of Sheffield

Verified by JustGiving

RCN HMRC Registered
Gifts to University of Sheffield help fund areas such as student hardship, equipment, and groundbreaking research. Thank you for your support.

Donation summary

Total raised
£1,852.61
+ £177.96 Gift Aid
Online donations
£1,852.61
Offline donations
£0.00

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