Saturday, July 9, 2011

Genetic mysteries

Cystic Fibrosis is just one of many genetic illnesses which bring heartbreak to many families, but new research could lead to a cure
I’ve had a persistent cough for almost two weeks now and it’s driving me (and my family) crazy.
But I cannot complain, because this week I’ve been reading about what it’s like to live with Cystic Fibrosis.
The reason I was reading about CF is because a news story caught my attention.
Recently an international team of scientists at Queen’s University in Belfast has developed a new drug to treat Cystic Fibrosis.
The drug specifically targets the so-called Celtic gene which is common in Ireland.
But the researchers believe the breakthrough will have significant implications for all CF sufferers.
The scientists from Europe, America and Australia developed a drug that significantly improved lung function, quality of life and a reduction in disease flare ups.
“This is a ground-breaking treatment because it treats the basic defect caused by the gene mutation in patients,” said Dr Judy Bradley from the University of Ulster.
“Correcting the cells with this mutation shows that treatments aimed at the basic mutation can work leading to improvements in lung function and symptoms.”
As a result of their work, the researchers have been selected to join the European Cystic Fibrosis Society Clinical Trials Network.
The new drug will be submitted for licensing and is expected to be available to patients by as early as next year.
To understand just how significant this research is, you first have to understand the disease.
Cystic Fibrosis is the most common life threatening recessive gene condition affecting Australian children.
CF affects a number of organs in the body, especially the lungs and pancreas, by clogging them with thick, sticky mucus (which is no doubt why a persistent cough is one of the symptoms).

Repeated infections and blockages can cause irreversible lung damage and death.
Mucus can also cause problems in the pancreas preventing the release of enzymes needed for the digestion of food. This means that people with CF can have problems with nutrition.
Symptoms of CF include poor weight gain, troublesome coughs, repeated chest infections, salty sweat and abnormal stools.
Children and adults with CF must use intensive daily airway clearance techniques (physiotherapy) to combat the build up of mucus in the lungs.
Many people with CF also take up to 40 enzyme replacement tablets each day to aid digestion. They must also follow high energy diets with added vitamins and salt.
It is common for CF sufferers to have regular visits to clinics, hospitalisation and antibiotic treatment, and in severe cases, there is the option of a lung transplant however there is a shortage of donor organs, and the waiting time is on average nine to 12 months.
This is an inherited condition, and for a child to be born with CF, both parents must be genetic carriers.
All babies are screened at birth for CF from a blood sample, and if this is positive, then further genetic testing is done to confirm the result.
In Australia, about one in every 2500 babies will be born with CF.
Special tests can be carried out during pregnancy to determine if the baby will have CF.
These are available to people who already have a child with CF, or if you or your partner are known genetic carriers.
Genetic carrier testing is done for people who don’t have CF to find out if they have the mutation. This is most relevant for people who have a close blood relative who has CF, or the partner of a person already known to be a genetic carrier.
It is estimated that there are about 1 million genetic carriers of CF in Australia.
There is no cure for CF, but the faulty gene has been identified and scientists have been working for years to find ways to repair or replace it.
About 3000 people are living with CF in Australia and due to advancements in treatment, the average life expectancy of somone living with CF is now mid-thirties, but there are still many children who do not reach adulthood.
65 Roses Day is the national fundraising and awareness campaign for Cystic Fibrosis held in May every year but you can still give your support via the website
As well as CF, there are many other genetic illnesses that are still incurable.
The Children’s Medical Research Institute (CMRI) aims to research the very beginnings of diseases in order to reduce the number of children born with genetic illnesses.
There are hundreds of genetic diseases from leukaemia, haemophilia, Down syndrome, Huntington’s disease, muscular dystrophy and congenital heart disease and in Australia, roughly one in 20 children are born with one.
CMRI’s research has already led to treatment and prevention of genetic diseases such as Rubella.
Today, thousands of babies are no longer being born with Rubella’s devastating affects such as deafness, blindness, congenitla heart disease and mental retardation.
CMRI’s major fundraiser is Jeans for Genes Day to be held on Friday, August 5.
Everyone is encouraged to wear their favourite jeans to work or school, and make a donation or buy a badge for the privilege.
For more information visit


Tinka_07 said...

Thank you for this article. I am a 25 year old CF sufferer & am getting over having to explain to people that my cough is not contagious. I wish people knew more about this disease so we could get more funding & support. CF is known to the government as a Chronic Illness, not a disability so our families lack a lot of support that disabled people get. I am fighting to change this.

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