What Have Genetics Got to Do with Rare Diseases?
Rare diseases have been an increasing focus of attention over the last few years, with an EU definition of rare disease being 1 in 2000 people or fewer affected. According to science, there are more than 7,000 rare diseases, and between them, in the region of, 350 million people around the world are affected. While they affect just a small number of individuals, rare diseases represent a significant source of morbidity and adverse impact.
When discoveries are made by geneticists, they can provide a foundation for the development of pharmaceuticals, such as statins for hypercholesterolemia. As such, Geneticists play an important part in improving the quality of management for millions of lives across the world.
Rare Diseases Often Have Genetic Links
Often, rare diseases are genetically determined. Genetic research in these rare diseases is vital for the identification of molecular and cellular pathways associated with their development. Approximately 80% of rare diseases have a genetic disorder at its root. The first step for any patient with a rare disease is that they receive a diagnosis. Only then can there be a sense of direction and purpose to management.
Mostly, these genetic disorders arise because of a single gene mutation - hence the need for detailed analysis of the gene itself, its function and the protein it encodes. The knowledge gained can help scientists to understand normal processes like ageing and cancer development. One of the greatest challenges which a Clinical geneticist faces in clinical practice is establishing cause and determining if there is a link between a DNA variant and the clinical condition in the patient.
Moreover, common diseases may also share genetic pathways with rare diseases, and the identification of rare variants can lead to the uncovering of new targets that are vital to the creation and development of new drugs.
A Wide Range of Genetic Testing Services
The Genetics.ie team, under the stewardship of renowned geneticist and founder Dr Willie Reardon, offers a wide range of genetic testing services relating to rare diseases, chromosome disorders, muscular dystrophies, birth defects and more.
If you'd like to know more about us and what we offer, please take the time to visit us online at www.genetics.ie. Alternatively, to speak to us about your personal needs, just call 087 4037149.