Raising awareness about genetic disorders
These genetic conditions are estimated to affect over 25 000 South Africans.
October 1 (today) is National Inherited Disorders Day.
Inherited disorders cover a huge diversity of diseases that affect hundreds of thousands of South Africans and millions of people worldwide.
They affect people from all walks of life and can cause serious health issues.
Genetic components have been implicated in cancer, heart disease, diabetes, metal health, blindness and many more.
We have thousands of genes that are microscopic bits of biological information that we inherit from our parents.
This information is stored in every cell of the body in volumes of information called chromosomes and the chapters in these “Books of life” are called genes.
These genes spell out the codes for the various cells in the body to produce proteins which are the building blocks of life.
Errors in the code are called gene mutations and lead to missing or toxic forms of proteins affecting the cells efficiency and even causing cell death.
The resulting diseases are called inherited or genetic disorders or diseases.
The unlocking of the human genome and the advancement of technology has allowed researchers to make huge progress in our basic understanding of the complexity of human genes.
The science of human genetics is now discovering the gene mutations that cause disease and ways of intervening to treat these disorders.
The study of the gene mutations that cause inherited retinal vision loss have been boosted over the last 35 years due to the proactive involvement by patient groups- such as Retina South Africa.
They are in partnership with the Division of Human Genetics at the University of Cape Town to identify the gene mutation in South Africans affected by genetic retinal blinding conditions such as Retinitis Pigmentosa [RP], Macular dystrophy [MD] and Usher Syndrome- RP accompanied by profound hearing loss.
These genetic conditions are estimated to affect over 25 000 South Africans and are generally diagnosed in young or pre-teen children, most often from families with no previous history of blindness.
This is due to the fact that the most common form of inheritance in this group of vision stealing conditions is recessive inheritance.
This is where unaffected parents unknowingly carry a single copy of a gene mutation.
When two carriers marry the child may inherit a gene mutation from both parents and then have the disorder.
Where the child inherits a gene mutation from only one parent the child again becomes a carrier of the gene.
Retina South Africa estimates that there are 10 million South Africans carrying a single copy of a gene mutation in one of the 280 genes that have been associated with genetic retinal blindness.
World-wide research has led to dozens of clinical trials being conducted to test promising treatments for these devastating forms of vision loss.
Remarkable progress has been achieved in the fields of gene replacement, stem cells, artificial vision, Opto- bionics and many more.
Retina South Africa is collaborating with local and international researchers to bring promising clinical trials and therapies to South Africa.
“We are targeting the younger patients facing a lifetime of vision loss,” said Claudette Medefindt, head of Science for Retina South Africa.
“If we can treat all young South Africans who have retinal degeneration we can save 1 million blind years.”
Visit www.retinasa.org.za for more information.
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