Emedgene Honors Rare Disease Day. With 8% of the world’s population affected by rare diseases, rare is actually not that rare
In our work with clinicians and genetic institutes worldwide for the past years, we encountered countless of patients with undiagnosed diseases, who’s been sent from specialist to specialist, from one examination to the next, with no conclusion or result.
This decade presents a unique opportunity to finally bring advanced genetic diagnostics and treatment to practical use, and improve the lives of the hundreds of millions of patients worldwide who suffer rare diseases.
There is still a lot to be researched and discovered before we can bring genetics to full clinical use, but the gaps between what is known in the scientific community and what is actually being used in clinical care are already too dramatic to sustain.
We are always in awe of the commitment of our users to find a resolution for their patients. Over the years we heard countless of stories, and many a time, were fortunate enough to take part in their personal story and help find a resolution to their case. We are humbled by this opportunity to take part in ending what has become negatively known as “The Diagnostics Audyssey” and help bring a relief to these patients and their families.
And this is one more opportunity to be reminded of the truly remarkable story of Sam Berns, a progeria patient, who inspired us every step of the way.