National Inherited Disorders Day – the dangers
Did you know that today is National Inherited Disorders Day?
Most people don’t, but here is a rundown of what it means and the effects of these disorders.
Inherited disorders are diseases that are passed down from generation to generation by means of genes.
These “family” 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, mental health, blindness and many more.
It’s all very scientific with tons of big words that are hard to understand, but to put it simply:
Every person has 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.
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 death of cells.
The resulting diseases are called inherited or genetic disorders or diseases.
Retina SA, in partnership with the Division of Human Genetics at the University of Cape Town, works 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.
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Where the child inherits a gene mutation from only one parent the child again becomes a carrier of the gene.
“We are targeting the younger patients facing a lifetime of vision loss,” says Claudette Medefindt, head of science for Retina South Africa.
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“If we can treat all young South Africans who have retinal degeneration we can save one million blind years.”
South Africans can donate R10 and invest in this miracle by sending an SMS with the word Dream to 38267.
Larger donations are tax deductible, visit www.retinasa.org.za for more information.
