Looking forward to bio-boosts in India

Well, China is making a big leap in the field of biotechnology and modern medicine. It is planning to make a total output value of $630 billion by the end of the year 2015. This involves modernizing the traditional and old Chinese medicine. India has a rich heritage of traditional medicine. I wonder when the government will wake up and start revolutionizing it..........before it gets lost and loses faith. 

Scientists have now got to be good videographers

Scientific publications are even more fascinating now. A new journal called JoVE is publishing videos of the research conducted in lab. So if you want to believe science you can go to this journal website and watch the videos. Science is cool but this is even cooler. I am not sure how much effort goes into producing a publishable video, but probably should start thinking of it now.

Muscular Dystrophy

Muscular dystrophy is an open access book published by the InTech publishing house.With more than 30 different types and subtypes known and many more yet to be classified and characterized, muscular dystrophy is a highly heterogeneous group of inherited neuromuscular disorders. This book provides a comprehensive overview of the various types of muscular dystrophies, genes associated with each subtype, disease diagnosis, management as well as available treatment options. Though each different type and subtype of muscular dystrophy is associated with a different causative gene, the majority of them have overlapping clinical presentations, making molecular diagnosis inevitable for both disease diagnosis as well as patient management. This book discusses the currently available diagnostic approaches that have revolutionized clinical research. Pathophysiology of the different muscular dystrophies, multifaceted functions of the involved genes as well as efforts towards diagnosis and effective patient management, are also discussed. Adding value to the book are the included reports on ongoing studies that show a promise for future therapeutic strategies. 

Whole Exome OR Hole Exome?? education is essential

I had been to the annual ACMG (now ACMGG) conference recently and its all been about whole exome sequencing. Everyone is talking about whole exome sequencing and its potential. But one thing is to be understood, especially by the public that whole exome is still not whole exome. Many genes and exons cannot still be captured and sequenced even by the latest and greatest technology. Lots of false positives and false negatives show up through the assay and I am really surprised how it is being offered as a clinical diagnostic test in some of the labs in the country. I myself have been analyzing whole exomes and has still been a big challenge even in research labs, forget about clinical labs. So please be educated well, before you start opting the test or even supporting the idea.

There are more blood groups than you know............Not just A, B, AB or O.

Recent discovery of two new blood proteins by researchers at University of Vermont, have totaled the number of known blood groups to 32. Blood groups are determined by the presence or absence of a certain protein or group of proteins (called antigens) on the surface of the red blood cells of an individual. So with the discovery of the two new proteins 'junior' and 'Langereis', new blood groups namely junior positive or junior negative and like wise have come into existence. These are more common in Japanese population. What is the importance of this discovery or what actually is the importance of knowing the blood group of any individual. Its significant for blood transfusions or pregnancy compatibility. The proteins or  antigens present on one's own blood cells may  trigger production of counter acting proteins called antibodies when transfused into someone else who naturally did not have these antigens. This may result in clump formation and eventual death. Nobel Laureate Karl Landsteiner was the one who first discovered the existence of different blood groups 1901. I wonder how we managed blood transfusions then and the Japanese until now.

What have you done that wasn't for your own benefit?.......honestly????

Before I get into the details of the current post, I admit I haven't done anything worth mention. However, I take personal pride in referring one of my former students Sandeep, who is a fellow at TEACH for INDIA. I personally believe its an amazing program and i respect the youngsters who have participated in this program and dedicated 'two' crucial years of their career building period. I honestly admit that committing two years to something like this, needs self-motivation and visionary thinking. When it comes to just donating few bucks from our pocket to someone who is in dire need, we often ask ourselves; " REALLY! My little contribution is gonna make a difference to his/her life?" and most often we hear a negative response from within us and we skip donating. But to believe that their contribution will bring difference and to work towards it, one has to be visionary and philanthropic. Though I regret, I could not do it myself, I am glad I am able to appreciate someone who has done it. My appreciation extends to every young Indian who has participated in the 'Teach for India' program and served the nation.

Its a viral protein that helps you grow healthy in mother's womb.....Amazing!!!

We all know how bad viruses are. From common cold to the deadly AIDS, they affect us in many ways. But it is amazing and startling to know the fact that they have played a crucial role in our (human) life cycle. If not for these certain viruses, we would be hatching out of eggs like birds or reptiles. In the year 2000, a group of scientists from Genetics Institute Inc., Cambridge, Massachusetts identified a new human gene that expresses a protein called syncytin. Though Syncytin gene is a part of human genome now, it has been incorporated there by viruses. This original viral protein would be expressed by the invading virus to spread along the host body and cause infection. However, the protein served a different function for the human or more precisely mammals by forming placenta. Placenta is the connecting tube between a growing fetus and the mother’s uterus which serves nutrient uptake and ensures fetal development.  It is believed that human or mammalian placentae are formed by fusion of the cytotrophoblast cells through expression of syncytin. If there were no viral gene syncytin, there would have been no placenta formation. Several forms of syncytin are being discovered in different mammalian species piecing together the story of evolution. Not just syncytin, there are several other genes that make up the human DNA accounting for atleast 8% of human DNA.

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.

                                                             SEQUENCING MENU

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.