Drug for a genetic disease - more and more are sure to come.

Cystic fibrosis causes the body to produce an unusually thick, sticky mucus that clogs the lungs and obstructs the pancreas and stops enzymes from helping the body break down and absorb food. These patients are prone to infections and progressively lose the ability to breathe. The disease is caused by genetic mutations in a gene called cystic fibrosis transmembrane conductance regulator (CFTR) which regulates the transport of chloride and water in the body. The US Food and Drug Administration has approved "the first therapy to treat an underlying cause of cystic fibrosis”. The drug targets the most common mutation in the gene and restores the function (of CFTR protein) and not the symptoms of it. Approximately 4% of cystic fibrosis patients can be benefitted from this expensive therapy costing $294,000 a year.

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your hypothesis failed ?? cheer up !! you can still publish.

BioFlukes, a publisher based in Banglore, India have launched a new journal called 'Journal of Errology' and are accepting articles which explain failed hypotheses. Its a bold step though and i am sure they will have tons of articles being submitted for review. The reviewers and editors are going to be really busy. So friends, the next time your boss or PI asks you to work on a crazy hypothesis, don't panic. The hypothesis works or not, you will have a publication either way. That said, now anyone can come up with a hypothesis...........I personally feel the publishers are crazy. But all those out there, go back to your log notes and write up an article on the failed hypothesis.

Can’t escape being a couch-potato? No worries for here’s Irisin.

Researchers at Dana-Farber Cancer Institute have identified a new hormone called Irisin. It’s a hormone that’s secreted in every healthy being (more during exercise) and circulates in blood. The researchers discovered that Irisin transforms bad fat in the body into good fat. Fat, we all know accumulates in our body in adipose tissue. It actually is of two types - BAT and WAT. BAT (brown adipose tissue) is the one that burns calories to provide energy during exercise (and so is good fat), while WAT (White adipose tissue) is the one that adamantly stores calories (and so is bad fat). The identification of Irisin and its potential role in converting WAT into BAT may be revolutionary in checking obesity now. Taking Irisin pills may burn your fat without having to do any exercise at all. No need to go to a gym, the gym is all in you……..you may just need to trigger it with a pill.

Peek-a-boo.......I see you (a cancer cell) !!!!

A Team led by John Viator at University of Missouri have developed a new way to detect melanoma cancer cells in a patients blood sample using photoacoustics. It uses a simple principle. A laser light shoot into a blood sample, is absorbed by excessive melanin in cancer cells, thereby expanding them. Then the detection of cancer cell is as simple as spotting a black 18-wheeler truck in the midst of an eight-lane highway full of white compact cars. The device is yet to be approved by FDA for clinical use. SO COOOOL !!!

Personalized Therapy and Whole Exomes/Genomes

Genetics is driving the medical field into a new world.......where drugs and therapeutic strategies will be tailored and customized as per the individual's genotype or haplotype. This is being done by endorsing whole exome/genome analysis for clinical diagnosis. Application of whole exome sequencing for clinical diagnosis is however a big challenge. Promises are being made that the technology is going to be an affordable alternative to disease diagnosis and mutation detection. But in reality the success rate in finding a causative mutation through these fancy technologies has been really low. So much is yet to be done to even sound sensible. 

The era of genoscopy

Gone are the days of horoscopy. Its time for genoscopy. For everyone out there, its wise to compare your genomes rather than horoscopes for compatibility, before marriage. You may end up on the safe side personally, but your kid will be the most affected one. Recently, I worked on some Agrawal patients from India........several of them; each belonging to a different unrelated family. When I looked at their genomes, what I found was interesting. The disease causing mutation was the same in all of them. They harbored the same mutation in one of their genes. This is called a founder mutation; a mutation inherited by several of the descendants form a common ancestor, perhaps long long ago. Even though the parents did not have the disorder, the kids got it, because each of the parent had one of their two copies of the gene mutated. The kids unfortunately inherited the mutated copies of the gene from each parent and ended up having both copies mutated and hence the disorder. Only if the couple got their genomes checked for compatibility, they would have known the risks involved. This is just an example, there are several other examples involving even devastating and fatal disorders. So, BETTER BE CAUTIOUS AND EDUCATED.