I always dream about it. I really believe that in the next decades, we’re going to find a cure or at least a proper treatment for all the important genetic conditions/diseases. Until then, people struggling with these disorders have to learn how to handle their problem. First, here is a beautiful example:
Now, let’s see how we can get closer to that dream-world. I know it’s not going to be a patient-based post, but please forgive me this time. Here are 3 major improvements around muscular dystrophies, the first two articles present new diagnostic possibilities, while the third one is about the therapy:
A new genetic test targeting the most common types of muscular dystrophy–those caused by mutations in the dystrophin gene–is far quicker with greater accuracy and sensitivity than existing tests. It can be used to confirm clinical diagnoses, to test female family members who may be carriers, and to perform prenatal testing.
The average human gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases… Now researchers at Emory university has developed a microarray based test to check for mutations in this gene… Mutations in the dystrophin such as point mutations in a sequence of DNA can result in mistakes in gene expression and non-functional proteins that causes Duchenne muscular dystrophy (DMD).
Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and partially functional dystrophins are produced.
What is also crucial regarding genetic conditions? To avoid the diagnostic delay (so to diagnose the disorders in time):
The Sun Center of Excellence for Visual Genomics has been working towards using visual data exploration as a means to shed light on the causes of genetics disease.
Recently they developed 4D visualization virtual real atlas of the human body and other organism, with time being the fourth dimension. 4D enables you to virtually view the changes occurring in diseased state or genetically affected individuals and can be used for surgical studies.
Source: Christoph W. Sensen (via)
Japanese investigators from the RIKEN Research Institute are reporting that they created fluorescent DNA probes that can attach to a specific DNA gene sequence, and detect single nucleotide alterations. The development of such PRODAN-conjugated DNA probes can pave the way for a diagnostic modality to identify single nucleotide polymorphisms (SNPs) responsible for a wide variety of genetic disorders.
And an other interesting essay on an important question: Why a genetic defect present at birth manifests in disease only in later life?
Many innovational diagnostic/therapeutic possibilities. Anyway, I’ve been thinking for a while about a Diagnosaurus-like software for physicians to let them diagnose genetic conditions easier and faster. What do you think? Are you interested in collaborate?