Medical Breakthrough: First gene-editing in human

Chromosomes on blue background, scientific concept 3d illustration

Brian Madeux, 44, from Arizona, USA has been dealing with Hunter syndrome his entire life. He never expected to live past his early 20s and although he has surpassed his life expectancy, he experiences pain every second of the day.

A team of pioneering doctors in California proposed that Brian partake in an experimental trial that could change medical history forever. Brian was recently infused with the first gene-editing therapy directly in his bloodstream at Oakland's UCSF Benioff Children's Hospital. The Mayo Clinic classifies Hunter syndrome as “a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. Because the body doesn't have enough of the enzyme to break down certain complex molecules, the molecules build up in harmful amounts. In Hunter syndrome, the buildup of massive amounts of these harmful substances eventually causes permanent, progressive damage affecting appearance, Read more

Disease and genetic inheritance

Today we are going to comment on the Best Doctors Blog about the close relationship between some diseases and the genetic inheritance that parents pass on to their children through their genes.

It is safe to say that genes are the cornerstone of genetic inheritance, in so far as they contain our DNA, which in turn determines the instructions for making proteins in our body. Proteins carry out most of the functions within our cells: building structures, moving molecules and decomposing different types of toxins – to name but a few activities.

What is DNA? Deoxyribonucleic acid (abbreviated as DNA) is a nucleic acid whose content contains the genetic instructions used in the development of all living organisms that we know of. If we address the nature of the deoxyribonucleic acid molecule, we will find that its natural purpose is the long-term conservation of genetic information. As far as its structure is concerned, DNA takes the form of a double helix in which the information is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C) and thymine (T). Now that we have learnt a little more about what Read more