A Look Into the World of Spina Bifida

One in one thousand births are affected by neural tube defects, second most common in humans. Two particular defects include anencephaly and spina bifida, caused by the neural tube’s failure to close early on during the development of the brain and spinal cord. If the neural tube that forms the brain does not close, it is known as anencephaly and this results in the brain forming completely abnormally and the cranium being absent. The results are death at birth.
In mice, this defect is known as exencephaly. Which is where Dr. Heather Mcdermid and her research staff base their studies and experiments. Mutation of the gene Cecr2 causes exencephaly in mice in a strain dependent manner. For example a BALB/c strain on a mouse, when mutated, shows exencephaly in 75% of mouse embryos. Studing of the gene Cecr2 and its major modifier, a gene located on chromosome 19, will hopefully add to their field of research and understanding of the mechanisms of normal neurulation and neural tube defects.
Dr. Mcdermid went to school at the University of Western Ontario, where she would receive her bachelors of science in zoology; then, due to marriage, Dr. Mcdermid moved to Kingston and through observing a prof of the field, became avidaly interestd in human genetics. Going on to receive her P.H.d. Upon returning to Edmonton
Currently engaged in two projects, Dr. Mcdermid and her team are looking at Neural Tube Defects in mice, a lot of different aspects being associated to this, however this one being newer; it’s the mutation of a gene that prohibits the production of protein which in turn leads to NTD(Neural Tube Defect). The particular defect that Dr. Mcdermid is studying, turns into an equivalent of anencephaly, where the brain and spine form very early. In mice there are at least two hundred and forty different mutations that are likely to play a part in the defect. The brain is supposed to be a tube, but in the case of this particular defect, the brain remains flat and completely develops abnormally; now open to the amniotic fluid, which causes the brain to degrade over time. We see this in babies, when they are born and there is essentially nothing. No higher brain function at all, leading to death in just days after birth if not sooner. This has led to the studying of a gene that affects the expression of other genes. In this case, the gene that “turns on” or “turns off” the cause of the defect. However in humans it is a lot more complicated, because it is not a single gene defect, it is a multi factorial including: the environment as well as multiple genes, so it varies differently than in mice. So they hope that with the studying and understanding of all the different pathways in mice, where it is simpler, this can help them apply it to humans. All of this could not be done without the help of technology. And the advancement of technology over the years has helped immensely in their research. For example, if they wanted to sequence something, they would actually have to run gels and look at x rays. Now however there are sequencing machines where a little reaction is done and then it is sent off. In some of these next generation sequencing, they are able to get millions of reads, that allows for the ability to do a lot of things in a different way, in a much more accurate way. Even though it can be a long and tedious process, the discoveries are worth it. She comparing the tedious and long processes to the valleys, that can sometimes be very low, long valleys and the discoveries, the peaks, that make going through the valleys worth while.