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EW NEWS & OPINION 28 T he ASCRS Lecture on Science and Medicine at the 2014 ASCRS•ASOA Symposium & Congress featured Adam Rutherford, PhD, London, speaking about "Stories From the Genome," which he said would be the topic of his next book. He detailed a number of topics related to inherited genes and traits, DNA, and the Human Genome Project. Dr. Rutherford began by speak- ing about King Charles II of Spain, discussing his family history and characteristics, specifically focusing on the inbreeding of the family. He was the last ruling member of the Habsburg dynasty in Spain and died at the age of 38 with no heir. King Charles II was disabled, often referred to as "el Hechizado," or "the bewitched." His troubled life was almost certainly a result of the profound degree of inbreeding the royal family indulged in, Dr. Rutherford said. "Inbreeding is a fascinating subject, and it's incredibly important for geneticists," he said. "Almost all the genetics that we understand until about the 1970s or the 1980s was derived from looking at inbred family trees." Tree of life Dr. Rutherford discussed Charles Darwin's first sketch of the tree of life from his notebooks in 1837. He then showed an updated tree of life from 2003, which has been made circular to show more species. There is a fringe around the circle that represents individual species, he said; science has 2 million species currently. "We also know that 97% of all species that have existed on Earth for the past 4 billion years are al- ready extinct," Dr. Rutherford said. Those species shown on the tree of life are a tiny fraction of all the species that have ever existed, and when looking at humans positioned on this tree of life, our place is relatively insignificant. Dr. Rutherford spoke about ge- netics, referencing Gregor Mendel and his famous experiments with pea plants. He established that par- ticular characteristics in pea plants, such as flower color, are inherited in discreet patterns. Instead of the off- spring being a blend of characteris- tics of the parent plants, traits came in certain ratios, describing the exis- tence of genes, Dr. Rutherford said. In the discussion of genomes, DNA and the iconic double helix are important. The reason that was such a significant find was not just because of biological importance but also because of its structure, Dr. Rutherford said. The double helix is vital to its function. He highlighted that the rungs of the ladder of the double helix are made up of nucleobases A, T, C, and G. "What that means is if you are to split the double helix into two then you have all the information on both strands to replace the miss- ing strands," he said. "That is what happens every time a cell divides and replicates." What all this boils down to, he said, is that humans want to know how we work and how characteris- tics are passed from generation to generation, particularly how diseases are passed from generation to generation. Human Genome Project As we advanced in our understand- ing of DNA and sequencing DNA during the mid-1980s, the first diseases with genetic bases were identified, Dr. Rutherford said. Huntington's disease was one of the first 3 genetic diseases that was char- acterized genetically. Most labs at this time were focused on a single disease or small groups of genetic diseases. Around the 1990s, many geneticists realized this was not the best way of making progress because they were competing with each other. NIH and other organizations decided to sequence the entire human genome, which was the Human Genome Project, and Dr. Rutherford called this "one of the greatest scientific endeavors of this or any age." "The Human Genome Project ran from the early 1990s until the first decade of the 21st century," he said. In 2001 the first draft of the human genome was published, and he said this was a landmark of staggering importance. There were some surprises that the Human Genome Project yielded, Dr. Rutherford said. "There didn't appear to be nearly enough genes," he said, adding that the number that humans had was 22,000. This is less than many other species. "What this meant was we didn't quite under- stand how human genetics worked," he said. "Until this point, we thought we understood how human genetics worked," he said. We have spent the last decade filling in those gaps. There have been studies of pat- terns of inheritance to try and figure out if certain traits, attributes, and abilities are inherited through family generations. Traits such as eye color have been studied. There is also the question of whether violence is inherited, Dr. Rutherford said. This topic has sur- faced in court cases as to whether people who commit a violent act had a gene that predisposed them to violence. Studies continue to be done looking at the genomes of famous figures trying to determine if there are genetic markers to identify why these people were particularly signif- icant. Dr. Rutherford mentioned studies looking into Elvis Presley, Ludwig van Beethoven, John Lennon, and Adolf Hitler, trying to find a connection between these individuals' genes and why they stood out in history. "We've been trying to find sim- plistic answers to complex questions for as long as we've been looking at how humans work," Dr. Rutherford said. He said that instead we should revel in the bounty of our sophisti- cation and continue to try to under- stand how we work as a species. Finally, he discussed a graphic that resembled a peacock's spread feathers and illustrated the genetic component of ancestors. The bot- tom represented the individual, and moving back generations, black spots became evident. Dr. Rutherford said this shows there are gaps because there are ancestors who have contributed no DNA to the individual at present. "By the time you get to 11 generations back, around half of your ancestors did not contribute any DNA to you right now," he said. Dr. Rutherford finished his lec- ture by expressing his excitement about our evolutionary past. He discussed recent discoveries looking at the genomes of humans, Neanderthals, and a species that has characteristics of both but is com- pletely different. This subject area has changed significantly in the last 10 years because DNA from long dead species can be sequenced. About 5 years ago, a single tooth and a single fingertip from a female were found in a cave in Siberia. By extracting the full genome of this human ancestor, it was discovered that it was neither human nor Neanderthal. EW Editors' note: Dr. Rutherford has no financial interests related to this article. For more information or to contact Dr. Rutherford, visit his website at adamrutherford.com. July 2014 by Ellen Stodola EyeWorld Staff Writer Author discusses 'Stories From the Genome' Dr. Rutherford delivers the ASCRS Lecture on Science and Medicine at the 2014 ASCRS•ASOA Symposium & Congress in Boston. Source: EyeWorld 12-29 News_EW July 2014-DL_Layout 1 6/26/14 4:05 PM Page 28

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