#scientificdevelopments

Núria Romero is the Managing Director of Asphalion, a Regulatory and Scientific Consulting in Life Sciences founded in 2000.

"As a young scientist it can be liberating to not have expectations placed on you; if you can work quietly, if you can obtain funds for your work. And I could obtain modest funds for my work and I could work in a way that allowed me the time and space to develop evidence until I was convinced of it. That's of course the highest bar — that you convince yourself that your evidence is good. Once you present your evidence then of course you're no longer being ignored. You're being attacked from all sides. Then you need to defend your evidence. But if you've had 17 years to do it, to build it, then you're in a much better position to defend it well." ▼ Reshared Post From Frank Elliott ▼ Mary Claire King was a young scientist in 1974, but wondered how so many families had women with breast cancer.   She decided to find out despite the derision of her colleagues.  Seventeen years later she pinned down the gene, BRCA1, whose malfunction caused a huge number of breast cancers.  Not all women with defective BRCA1 genes developed breast or ovarian cancer, but there was a very strong disposition.  This was the start to a set of huge paradigm changing advances that helped scientists and medical research to understand disease and illness and treatment in an entirely new way.   Here's the link for this story on NPR and the interview from today if it is broken below the image just below: http://www.kpbs.org/news/2014/mar/27/how-being-ignored-helped-a-woman-discover-the/ Later on she found a related gene, BRCA2.  These two genes function to repair double strand DNA damage.  When they malfunction because of a mutation or other damage, those defects are not repaired and cancer often results.    Scientists back in the 1970's didn't believe that genes could cause major diseases like cancer.  Dr. King, by finding that no alternative mechanism seemed to explain what was occurring believed that some genetic defect must be at fault.   She was correct, but feels she had an advantage.  Her career had not been so far along that she felt the huge pressure to conform and go along. You will really enjoy her clear explanation of how this occurred and how very determined she needed to be to follow the science and the leads.  I'm also going to include two additional links.  The first is a very good explanation in Wikipedia about how these genes function when they are working correctly.   Here's that link: http://en.wikipedia.org/wiki/BRCA1           You will also enjoy the podcast from Science Magazine from today.   Science is one of the very most important science news and research reporting journals with a long, long tradition of excellence.  I know many public libraries and academic libraries buy Science in paper and also purchase and license it for electronic access.  Here's the link for the podcast.  You can also subscribe to all Science Podcasts. http://www.sciencemag.org/content/343/6178/1545.2.full It's the 20th Anniversary Today of the discovery of this gene. I am one of the beneficiaries of technology behind being able to genetically engineer medications that save lives thanks to Xolair, a genetically engineering monoclonal antibody that prevents my body from being flooded with histamines and a host of other damaging molecules.  Thank you Dr. King for helping physicians to understand that defective genes are responsible for all kinds of illnesses. #breastcancer #geneticdisorder #geneticdisease #brca1 #scientificdevelopments #paradigmshift #dnasequencing http://click-to-read-mo.re/p/6iFf