Wednesday, August 13, 2014

The Father of Modern Genetics

             *Forward edit*  I apologize for not writing last week. I was on vacation, and could not bring myself to finish this post in time. Mendel was a fascinating man, I hope this post is capable of honoring the memory of a paragon of Science.   - Cameron


       Who is the Father of Modern Genetics?  When did he live?  Why is he considered the Father of Modern Genetics? Finally, what did he discover and does that differ from what is generally thought to be "known" about him?  These are all questions that have been rolling in my head since I have begun my study of Genetics. Until now though, I have never felt the need to really know the answers. In the larger scheme of my work, and genetics as a whole, it is not necessary to know about the man behind the science. What is truly important is knowing the science. Passion does not often just manifest in just one facet of a subject though, passion leads to the yearning to understand the entirety of the topic. I hope to share with you some of the fruits of my passion as my journey progresses.

Gregor Mendel
     
       To begin with the most basic of questions, who is the Father of Modern Genetics? Gregor Mendel. This is commonly one of those basic answers that sticks with people from high school biology, along with "Darwin discovered the theory of Evolution" and "E=MC² ". Often that is the extent of what is remembered, a very astute person might mention something about Peas, and maybe that Mendel was a monk (as it turns out he was a Friar, not a monk, think Friar Tuck vs clammed up shut-in) in the 17 or 1800's. As you can see even the information remembered by some is not completely accurate. So who was this mysterious friar?  What did he really discover and was he really such an important figure in modern science? 


       In 1865, the same year President Lincoln was assassinated and Lewis Carroll wrote about Alice's Adventures in Wonderland,  a short man with a receding hair line and gold framed classes walks up to a podium in front of an assembly to give his first of two lectures on the hybridization of plants. In attendance at both of the lectures were the forty members of the Brunn Society for Natural Science. Mendel explains his research over the last eight years and his discoveries about heredity and promptly drowns his audience in the vast statistics that correspond with his studies. At the end of the lecture, the audience politely applauds and then begins an animated discussion about Darwin's "Newly published" (6 years previous) Origin of Species. Mendel went back to his studies, started a letter correspondence with Carl von Nageli a famous and esteemed theorist of the time, who discredits Mendel's research, and one of the most influential discovery's of the time, fades into the background. 

Two papers that have significantly influenced the study of science for more than 150 years.
Experiments in Plant Hybridization (Left) and The Origin of Species (Right)
       Mendel discovered the existence of heritable factors or what we now call genes. How is it possible that this discovery went by unremarked for 35 years? It is hard to say exactly because it seems so obvious to us how important this discovery was, but I think it has to do with two important facets that are needed in order to have an idea spread. The first facet being popularity. We see everyday how much popularity has an effect on the dispersal of information. Let's think about Neil deGrass Tyson vs any other Anonymous Scientist on TV for a moment. Dr. Tyson is able to sway the opinions of many more people because he is substantially more publicized. An anonymous scientist doesn't have the inherent trust of the audience, so they would have to work to gain that trust which means they probably won't hold the audiences attention in the same way. Mendel was basically an anonymous scientist. Those who knew him, would have said he was a good scientist, but in the Scientific community at large, he was relatively unknown. The second facet is a bit more philosophical, but boils down to, Mendel's idea was too advanced for the time period or the people who came across it. At the time, the scientific lexicon was missing some key words, and what comes with those words, their definition or an understood description of the concept. To better understand what the times were like, think about anything you know intimately. Think of all of the minute details, how seemingly perfect it appears. Is there anything that could make this object or concept better without changing any part of it? If it was truly perfect there shouldn't be anything to add or fix. Now if someone started describing an addition to your object but was speaking in conversational gibberish, it would be natural to give odd looks at the person or ignore them. This was the second facet of Mendel's problem. People did not understand what he was talking about, because there was a different popular theory of how heritage was passed on to offspring. This must have caused Mendel great distress and sadness in the years going forth.

       There are two main "Laws" that have been attributed to Mendel and a third law which is less discussed but is critical to why Mendel has the title as "The Father of Modern Genetics" instead of some other scientist of the time.
   
     Mendel's First Law (The Law of Segregation): During gamete formation, the alleles for each gene segregate from each other so that each gamete carries only one allele for each gene.  In more plain scientific terms that means, gamete cells only have one copy of a gene (haploid), opposed to two copies (dipoid) like the parent cells do.

     Mendel's Second Law (The Law of Independent Assortment): Genes for different traits can segregate independently during the formation of gametes.  That is to say, genes are in general not linked to other genes, enabling the progeny to have an equal chance of obtaining each gene independent of other genes.

    Law of Dominance: Genes are either recessive or dominant.  Dominant genes will always show over recessive genes in the phenotype of the organism.

       While these definitions are technical, they can be understood with some basic scientific understanding.  All three of the definitions are quite dependent on the word gene. Without that understanding, these Laws are quite a bit more complicated. 

       What caused a friar from the modern day Czech Republic to discover these laws was the same problem that caused his audience in 1865 find his lecture dull and uneventful, the shear amount of controlled experimental data that he obtained to establish these findings. Undoubtedly other scientists had observed similar occurrences as Mendel, but did not have same statistical load. It is reported that Mendel grew around 29,000 pea plants. This absolute commitment which to most would border on the edge of fanatical, allowed Mendel to understand a concept that until that point did not exist in any lexicon, and gave him an understanding without knowing. The laws above have been credited to Mendel, but were derived some time after, when the lexicon of genetics had been more defined.  

       As has been mentioned previously, Mendel's research went basically unremarked by the scientific community at large. The logical leading question is then, "How are we now talking about him?" This is one of those seemingly perfect convergences of science lore and a bit of almost plagiarism. Popular opinion would have us believe that in the Spring of 1900, three scientists independently rediscovered Mendel's work, Hugo de Vries, Carl Correns, and Erich von Tschermak. I suspect that there was a bit of chicanery that went on in order to attempt take credit for a groundbreaking discovery. There was an initial publication by de Vries sent to a French journal in early 1900 that did not mention Mendel's work, though it used almost identical terminology as Mendel. Next, seeing what de Vries had published, Correns sent de Vries a copy of Mendel's work, and wrote a letter to a popular journal at the time basically establishing Mendel's a priori discovery. A month later, de Vries had a different publication to a German journal that was quite similar to the French publication, but was much more in depth, and also had an added tip of the hat to Mendel.  Finally, nearly four decades after Mendel's discovery of how inheritance is passed on and almost two decades after his death, his ideas were able to take root, and grow into the study we now call Mendelian Genetics. 

       I find it quite sad that he died without knowing if he had really made an impact. He was a brilliant man, who through much hard work and dedication was able to unravel one of the great mysteries of science, and he never truly knew for himself that what he discovered was not just an anomaly that he saw in his plants. I think this is a fairly common fear for most scientists. We strive to understand the world around us, and to discover new fascinating properties of that world in order to share the knowledge that we had obtained with the world. To unravel such a monumental truth and never have the validation must has been deeply sorrowful for Mendel. I like to hope that he did not struggle with the uncertainty or the feeling of incompetence that I would have, that he was steadfast in his resolve, knowing that one day, the rest of science would follow the trail the he began to forge. 


 "You move forward through knowledge. You prevail through knowledge.  I love the word 'prevail'. Prevail!!"   -James D. Watson


- Cameron

Wednesday, July 30, 2014

On Courting Science and Homunculi


       It is not uncommon to hear science referred to as a tempting mistress or a lovely lady.  Scientists see their study as more than just observations and measurements, but as a fascinating and complex entity that never fails to surprise and entice them to continue learning. Hearing stories of how researchers lost track of time and worked through the night are not shocking or awe-inspiring any more. It is just taken as a part how Scientists function. How does an area of study that is so diverse lead so many people to become obsessive and passionate?

       I don't have an simple answer to that question. I could go into my personal thoughts or share philosophy of others on the subject, and thought I am not saying it will never be discussed, for now I will just comment that science is the study of the world around us; The heartbeat, the breathe, the touch, of the world on our collective perceptions of nature.  It is as vast as the stars millions and billions of light-years away, as common as a slight breeze rustling the trees, and as minute as the electrons in the atoms in the DNA, in each one of our cells. Though it is my intention to write about science in a broad matter, I will often focus on the tiny "worlds" that make up cells and how that works, since that is often where my mind wonders during idle moments.

        A vast array of past anecdotes and philosophy tends to be the common intro, but I find that becomes repetitive and is often the fasted way to get people to tune out. Genetics is no more complex than any other branch of science, but often, because it deals with molecules that can not be seen without very expensive and technical equipment, I find that it is easy to feel overwhelmed by the subject for those who tend to shy away form discussions of science. So our problem becomes how to reasonably arrive at a common ground where factual information is being disseminated but does not lead to an overwhelming feeling for readers. That has to start from understanding a few basic principles of science, and occasionally taking a leap of faith and believing me when I skim over details that would take too long to explain in a post. I also want to warn you, it is also easy to get overwhelmed by the language of science. The jargon that escapes so freely out of a scientists mouth. I will often refer to acronyms or long complicated words, I will do my best to define each one, but I encourage you to follow these adventures in science with me, please ask me for clarity on anything that you do not understand. We are also living in a miraculous age which gives of close to the breadth of human knowledge at our finger tips, so for questions that I can not answer to your satisfaction, I encourage you to begin your study for yourself. Curiosity leads to the best types of discovery.

                      An intro into my World of Genetics

Figure 1.
       Genetics began as the study heredity. Curiosity of why families resembled each other, why some people had red hair, while others had black hair. Why some breeds of dogs grew larger, while others diminished in size. Questions of heredity lead to a discipline that has become widely famous by Mendel, and has since moved from being a study of why/how heredity occurs, to what is the source of this heredity. Of the various old theories of what was the cause of heredity in the 'PreMendelian' era, my favorite is the idea of the homunculus, or "Man the seed, woman the incubator". The idea was that most of the heritable characteristics come from the father, and the mother was basically a human incubator. Figure 1 is a drawing by Nicolaus Hartsoeker in 1694 which shows a preformed body within the man's seed.  This idea now seems ludicrous, but at the time it was one of the possible explanations in a time without sufficient technology to test the theory. Since Mendel, and much later with the help of Watson and Crick, we have discovered What is the basis for heredity, Deoxyribonucleic acid (DNA). To read a pretty fascinating letter about the discovery from Francis Crick to his son Michael, click this link.

       DNA is commonly referred to as the "Building blocks of life". It is made up of molecules that fit together to form long very complex strands. Each DNA molecule makes up the "letters" in a set of blueprints (genes). For a size estimate,  if an animo acid (which is coded for by three molecules of DNA) was the size of a ping pong ball, the size of the nucleus (which is the cellular compartment which contains the DNA) would be a sphere that was 2.5 miles across.  As you can imagine, this gives ample space for the "letters" to arrange themselves in basically limitless possibilities. These limitless possibilities are what has allowed the vast diversity of life in the world around us, from the lovely aromas of the lilies in the morning, to the smiles from a stranger you see every day. DNA is made up of four different molecules, Adenine, Thiamine, Guanine, and Cytosine. These four molecules are referred to as the 'bases'.  They make up the "letters" in the blueprint as referred to above. Unlike the English alphabet, there are only four "letters" in the genomic code. A combination of these letters in varying length compose the blueprints of the living universe. In humans, this works out to be about 25,000 different blueprints (genes). Tiny variations/mutations in these blueprints encode for all of the variety that we see among humans, from eye color to skin pigmentation.

       It is clear to see how quickly genetics can become overly complex. I have just brushed the surface of the topic and have skimmed/skipped most of the gritty detail. We will be taking a calm stroll through the literature as this blog progresses. Expounding on small topics so that we don't lose perspective as we cover each one.  Next week we will focus on Gregor Mendel and his Peas as well as other experiments which lead to a better understand of heritable traits.


"Still round the corner there may wait
A new road or a secret gate
And though I oft have passed them by
A day will come at last when I
Shall take the hidden paths that run
West of the Moon, East of the Sun."


-Cameron 

Saturday, July 26, 2014

New Beginnings

How does one start a blog?

I have had blogs in the past that never seem to work out.  Most of the time they start with some grand idea that has been making the rounds in my brain until I had not other choice but to put the idea down on paper. After that first post, the fire has settled down and I feel that I don't have much else to write about. This time I intend to set aside specific time to write so that I can make this a much more regular publication and hopefully write about enough interesting ideas that some of you look forward to learning a bit about how laboratory science works. I am still working out the details on how often I plan on posting and on what days.  For now, I will post once a week on Wednesdays and might throw in a few bonus posts here and there.

I also have a non scientific blog which I post on occasionally. It is called Echoes through the Darkness.You are welcome to check there intermittently if you would like to learn more about my travels through he world. You will be able to see my stresses, my joys, some of my sadness, and occasionally a real gem of a thought. I will do my best to remember to post links when I have new articles up.  On that blog I will also be posting about non-science books that I have been reading or am currently reading. I encourage you to join me in my literary adventures if you are looking for a new book to read.

My next post, and I suppose my first actual science post will be up on Wednesday.  It will be on overview of what I feel science is, and an introduction into genetics. As I mentioned in my first post, Of Articles To Come, I am a Ph.D. student in Genetics. So the next article will focus on introducing you to my world of genetics.

 Keep Science in your Hearts

  -Cameron

"It is my desire to view nature through nature's eyes... to truly become... a part of the very earth, thus to view the inner surfaces and the life elements."  - Isamu Noguchi

Friday, July 25, 2014

Of Articles To Come

Welcome to Imagination Science.

The aim of the blog is to discuss Science.  I am currently getting my Ph.D. in Genetics and would like to have an outlet to explain different pieces of Science that I come across.  Spanning from Popular Science articles, to explanations of Scientific Approaches/Theories/Protocols,  and a bit of insight into my journey to become a Scientist, I would like to explain to you the how science works in a way that is informative and understandable.

Hopefully I will be able to impart a bit a insight into how one scientist processes information.  I can not guarantee that the information henceforth will be completely accurate, but ideally it won't be too far from the truth.

I wish you all a pleasant experience as we journey through the world of science and theory together.


Cameron Hunter