Genetic Conditions and Rare Disorders

First things first – what exactly are genes?

Every human body is made of billions of cells – the very small units that make up all living things (so small you can only see them with a very strong microscope). Genes contain the information that controls how you grow, develop and function. And they determine most of your physical characteristics, including your gender, blood type, eye colour and height. Many health conditions and diseases are also carried in our genes.

What is a genetic condition?

A genetic condition typically occurs when you inherit an altered gene from your parents that increases your risk of developing that particular condition

Are all genetic conditions inherited?
No, some genetic changes occur randomly before you are born – so not all genetic conditions are passed down from your parents. Environmental or social factors can also cause or contribute to a genetic condition, e.g. being exposed to certain chemicals or radiation. 

The New Zealand situation
The most common life threatening genetic condition affecting New Zealand children is Cystic Fibrosis (CF) – a genetically inherited condition (some people are born with it) mainly affecting the lungs and digestive system.

Why research matters?
27% of unexplained deaths in young people result from a previously undiagnosed genetic condition. And this knowledge is critical to other family members who may have the same condition.

What are we doing to help?

Here are just some of the research projects we are funding to help progress scientific discovery – and improve, extend and save the lives of Kiwi kids living with genetic conditions.

Testing a new drug to improve muscle function for
those with muscular dystrophy

Cystinosis is a rare genetic disorder that affects every cell in the human body. Currently, children with cystinosis have only one treatment option – a medication (cysteamine) that is challenging to take and has significant side effects. But researchers from the University of Auckland might have the solution. Dr Hollywood has teamed up with Prof Herbie Newell from the University of Sunderland and will be testing a new drug called CF10, to see if it can reduce cystine and preserve kidney function more effectively than cysteamine does without the horrible side-effects. 

Research into a rare genetic disorder – a novel microcephaly gene which reduces brain size in children

Microcephaly is a rare developmental disorder resulting in reduced brain size. Many of the genes involved affect the ability of brain cells to grow and divide. Dr Bicknell and her team have used zebrafish as an animal model of disease to prove that a New Zealand family have a unique disorder which has not been recorded previously. This study will explore how genetic alterations to the newly identified gene disrupts brain development in this family and others like it.

A study of whether a molecule called Nox4 can reduce calcium leak and improve muscle function for those with Duchene muscular dystrophy

Despite being first identified in 1868, Duchene muscular dystrophy leads to progressive weakness and eventual cardiac and respiratory failure, and still has no readily available cure. This study will test a drug which is already in clinical trials for other diseases to target calcium leak in dystrophy, and therefore prevent damage and inflammation in the muscle.