Metabolic Genetics (GMDS)

By Kaustuv Bhattacharya

Let's raise funds for Sydney Children's Hospitals Foundation!

Let's support an amazing organisation.


Genetic metabolic disorders are a group of  rare,  inherited conditions that affect  the body’s metabolism. These are usually caused by a chemical reaction not functioning adequately and affects the way the body can handle substances like amino acids, protein, fats or carbohydrates. Sometimes other chemicals in the body are affected by these genetic conditions. The Metabolic Genetics service at Randwick and Westmead manages over 100 different rare conditions. The team diagnose very sick children in intensive care with rare metabolic genetic conditions, some of which have been treated with novel medicines. The service is affiliated with the NSW newborn bloodspot screening programme and state-wide Biochemical Genetics laboratory which identify rare metabolic genetic conditions. Treatment depends on the specific biochemical pathway that has been affected. This may include a specialised diet therapy and/or medications. For some disorders bone marrowliver, or kidney transplantation may be required. The Metabolic Genetic team has participated in international multi-centre clinical research of novel therapeutics and is preparing for the implementation of selected genetic therapies for patients going forward.

The service is raising money to support new treatments for rare diseases in the future

Thank you to my Supporters

$1.02k

Ann Simon

Thanks for all you did for Sofia

$400

Nick, Sarah, Lilly & Henry Simon

Thank you for all you have done for our gorgeous niece Sofia, forever grateful xx

$313.20

Kate Simon

Kaustuv you and your team do such amazing work!!! Thank you for taking such great care of Sofia

$261

Phoebe & Daniel O’loughlin

Amazing work making such a big difference to children’s live.

$250

Fleur & Jamie

$208.80

R And R Thomas

Thank you

$156.60

Caroline Gibbons

$156.60

James Simon

Good luck in hitting your target, we are big supporters of this cause

$104.40

Leanne Higgins

Keep up the amazing work that you do.

$52.20

Laura Youl

$52.20

Jessica Liston

We couldn’t be prouder of Sophia and her incredible parents for raising her and supporting her to be the beautiful, kind and cheeky girl she is today! Thanks to all the doctors and researchers for making miracles happen for our friends too.

$52.20

Amy Park

Thank you for your care and looking after Sofia, Kate and Jonathan, a very special family. A great cause. Amy x

$52.20

Catherine Fogarty

Incredible work! Thank you!

$52.20

Leanne Wells

$52.20

Wendy Ladhams

$52.20

Damian Bromley

$52.20

Austin Feldman And Krystal Whitlow

$52.20

Gem Egelton

We’re in awe of the wonderful work you do! Thanks for looking after Sofia, Kate and Jonathan xx

$52.20

Kathy Pitts

$50

Kelly Mcfarlane

❤️❤️❤️

$26.10

Alice Summers

For taking such good care of incredible Sofia, and other babies like her X

$26.10

Yvette Wright

$26.10

Kate Burns

Amazing work! Sending love and support!

$20.88

Sue Anic