Finding Clues in Genes of 'Exceptional Responders'

        Grace Silva pictured above of Dartmouth, Massachusetts was diagnosed in 2010 with anaplastic thyroid cancer following symptoms of a swollen neck and throat at the Dana-Farber Cancer Institute in Boston. Most patients die within months of finding out they have this type of cancer. Her doctor attempted to treat her with antibiotics but was not successful. Her thyroid gland was removed along with the tumor, and after chemotherapy and radiation treatments the cancer kept coming back. Dana-Farber Institute began studying a drug called everolimus in thyroid cancer due to studies of success in labs with mice. This drug was successful with Mrs. Silva, shrinking her tumors and disappearing for about a year and a half. 

       Researchers sequenced her tumor's genes, finding a mutation that made her cancer dependent on mTOR, and everolimus is able to oppress the production of that protein. Her tumors did begin to grow again and a second genetic analysis found a second mutation in the mTOR gene was allowing the cancer evade the drug and grow. Mrs. Silva is now receiving an experimental drug to take over the mutation's effect and stop cancer growth. Researchers can now just look for that mutation to help other patients because it is seen in hundred of other cancer types. 

      Cancer doctors are using 'exceptional responders' by testing them with a drug a doctor truly feels could work without really knowing if it will and in some cases this person responds positively. Studies are now being done to do this with gene sequencing. In one study at Memorial Sloan-Kettering Cancer Center a woman was treated with everolimus with bladder cancer. Her cancer was spreading rapidly and was told she had about a year to live. This drug caused her tumors to vanish. A variety of studies have been done to find these responders, which opens many doors for curing cancer.  

    This article really intrigued me, considering cancer is among a large portion of humans in the United States alone. A relative of a good friend of mine has just recently been diagnosed with liver cancer and my heart sank. I believe it is so important that research is done to help these victims and stop them from suffering. This may not be the cure for all cancer, but it is definitely a step in the right direction.

Article: http://www.nytimes.com/2014/10/09/health/in-genes-of-exceptional-responders-clues-to-fighting-disease.html?ref=science

Related Article: http://www.biomedcentral.com/1471-2482/13/S2/S44

Diseases in A Dish

Human diseases are often hard to treat due to the regulations on human testing and the years of clinical research to get FDA approval. How ever there is a new technological breakthrough that is allowing the culturing of human cells in a petri-dish, so they can be experimented on. This is all possible by the newly developed induced pluripotent stem cells or iPS cells.

These iPs cells were recently developed by Shinya Yamanaka, a Japanese scientist who created them from taking ordinary cells and putting them through a process that allowed them to go back to a stem cell like phase. Stem cells are so important because they are harvested at a stage where they have the capability to grow into any type of cell in the body with the right manipulation. However, due to there source, unborn babies, they have been outlawed to use in several countries. So with this accomplishment, the use of embryonic stem cells has become obsolete. Scientists in Germany have recently used iPs cells to create cardiac tissue that has a pulse and beats on its own, within a petri-dish. Science can now continue on in an extraordinary way.



This break through is one that has immense potential in the scientific field. Shinya Yamanaka recently won the noble prize for his work with iPS cells and I believe it will allow research that will lead to many diseases being cured.  iPs cells will have tremendous value in the years to come, and they will be instrumental in our understanding of biology.

The Orderly Choas Of Proteins

It is a widespread misconception that all proteins need to fold into their rigid 4° structure before they are active. They are required to be shaped specifically for target molecules with precise active sites and catalytic sites. However it is beginning to emerge that there are many proteins that don't take on a structure at all. And they are extremely active.



The lack of folding was always considered pathology, that lead to disease and limited function, but to be fluid is now believed to be crucial for some proteins functions. In fact, about 1/3 of the body's proteins are thought to be "intrinsically Disordered" having at least some unfolded or disordered parts. This fluidity allows proteins to adapt to different target molecules and perform more than the traditionally thought one task. There is also evidence that these types of proteins may have been the first to evolve, performing several tasks in life's early evolution.

I think there is a lot of sense behind this discovery. Our body's functions and different metabolic pathways are so complex and efficient, that modern science can't duplicate them. Science has come along way in the past couple hundred years, but do to the technological evolution that we live in, there will be a lot more advances, and insights to come. This is still the beginning.