Today marks National Inherited Disorders Day
Inherited disorders can cause serious health issues says the head of science at Retina South Africa.
NATIONAL Inherited Disorders Day is marked on October 1. Inherited disorders according to the head of science Retina South Africa, Claudette Medefindt cover a huge diversity of diseases that affect millions worldwide.
“They can cause serious health issues. Genetic components have been implicated in cancer, heart disease, Diabetes, metal health and blindness. We have thousands of genes that are microscopic bits of biological information that we inherit from our parents that 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,” Medefindt said.
She added that 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.
The genetic conditions are estimated to affect over 25 000 South Africans and are generally diagnosed in young or pre-teen children.
“We are targeting the younger patients facing a lifetime of vision loss.” said Medefindt, . “If we can treat all young South Africans who have retinal degeneration we can save 1 million blind years.”
There are between 4 000 and 6 000 diagnosed genetic disorders, with an estimated one in 25 children affected by such a disorder.
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. See www.retinasa.org.za.
