Punit Virk Transforming Pathology: Biotechnology as a positive feedback loop for the evolution of anatomical pathology
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Punit Virk presents Transforming Pathology: Biotechnology as a positive feedback loop for the evolution of anatomical pathology at Pathology-2015 in New Orleans, July 15, 2015
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Punit Virk Transforming Pathology: Biotechnology as a positive feedback loop for the evolution of anatomical pathology
- 1. { Punit Virk
- 2. Genetics and Pathology Genomics and Moore’s Law Current Limitations of Genomics A Genomic Singularity Painless, Satiated, Designer Babies- combating Pathology You and Me—Juggling Humanity Outline
- 3. { Why Genomics? • Genetically information forms the basis of some of the most intriguing biological phenomena. • Genomics plays a role in 9/10 leading causes of death, including: Heart Disease, Cancer, Stroke, Diabetes, and Alzheimer's.
- 4. Genomics and Moore's Law • DNA sequencing technology have arguably exceeded Moore’s law. • Speed of genome sequencing has far better than doubled every two years. • What now? How does this sequence data connect with anatomical pathology?
- 5. What stimulates advances in biotechnology?
- 6. Myth: Our genome has been completely sequenced
- 7. Pathology and AI “With too little data, you won’t be able to make any conclusions you trust. With loads of data you will find relationships that are not real.”- Douglas Merrill
- 8. What could genomics look like in the future?
- 9. Ending World Hunger? Is genetically-engineered and lab-grown food the remedy for worldwide malnutrition and hunger?
- 10. Designer Babies Will biotechnology breakthroughs during the technological singularity enable us to manipulate what it means to be human? And our relationship with pathology
- 11. Technology and Pathology Would we really be manipulating our own genetics? Are we vulnerable for entrusting our code life in the hands of strong, self-aware AI?
- 12. Genomics and Everyday Life 1. Could individuals start imposing limitations upon themselves if genetic profiles become available? 2. What if employers and universities eventually gained access to such information, could affect admission or employment? 3. Could discrimination based on genetic information present a drawback for advances in genetic research?
- 13. 2 Moms + 1 Dad The British government recently legalized 3-parent babies. A child can be born with 3 genetic parents. Is this a step towards ‘designer babies,’ or a innovative technique to eliminate mitochondrial disorders
- 14. The Red Queen Hypothesis? Could we end up in an arms race between pathology and genetic engineering?
- 15. Agar, Nicholas. (2006, April). Designer Babies: Ethical Considerations. Retrieved from: http://www.actionbioscience.org/biotechnology/agar.html#top Baker, Catherine. Your Genes, Your Choices: Exploring the Issues Raised by Genetic Research . (1999). Retrieved from http://ehrweb.aaas.org/ehr/books/index.html Borlaug, Norman. E. (2000). Ending World Hunger. The Promise of Biotechnology and the Threat of Anticscience Zealotry. Plant Physiology, 124(3), 487-490. Burt, R.K., Slavin, S., Burns, W.H., Marmont, A.M. (2002). Induction of tolerance in automimmune diseases by stem cell transplantation: getting closer to a cure? Blood, 99 (3), 768-784. http://bloodjournal.hematologylibrary.org/content/99/3/768.full.pdf Carr, Geoffrey (2010, June 17). Biology 2.0. The Economist. Retrieved from http://www.economist.com/node/16349358 Danaylov, Nikola. Mind Over Matter: The Future of Human-Computer Interfaces. Retrieved from: http://www.singularityweblog.com/mind-over-matter-the-future-of-human-computer-interfaces/#disqus_thread Enriquez, Juan (2012, June 4). Will our kids be a different species? Retrieved from: http://www.ted.com/talks/juan_enriquez_will_our_kids_be_a_different_species.html Gerlinger, Marco. (2012). Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 367 (10), 883-892. Giles, Chrissie. (2010, June 24). Great expectations: Celebrating a decade of research from the human genome sequence. Wellcome News, 63, 10-13. Kurzweil, Ray. (2005). The Singularity Is Near. New York: Penguin, Print Merrill, Douglas. (2013, October 30). Beyond R and Ph.Ds: The Mythology of Data Science. Retrieved from: http://www.youtube.com/watch?v=J2sgObXbIWY Muehlhauser, Luke., Salamon, Anna. 2012. “Intelligence Explosion: Evidence and Import.” In Singularity Hypotheses: A Scientific and Philosophical Assessment. Mueller, Thomas. Genomics and The Future of Medicine: Gene chip diagnoses and designing ourselves. Retrieved from Lectures Notes Online Web site: http://cybernephrology.ualberta.ca/LabMP_590/Fall2012/Mueller_genomics%20THM%20talk%20Nov%2002,%202011.pdf Pearce, David. (2013, October 15). Transhumanist Philosopher David Pearce on Singularity 1 on1: Giving Up Eating Meat. Retrieved from: https://www.youtube.com/watch?v=2wv8Hytp-c8&feature=player_embedded Pearce, David. (2013, October 17). Abolition of Suffering/Will Humanity’s Successors Be our Descendents? Retrieved from: http://www.youtube.com/watch?v=l4upY7aKEQ4&feature=c4-overview&list=UU3l8ghdgNRdRGa7MeMn9Sdw Van Valen, Leigh. M. (1972). Laws in biolog and history: structural similarities of academic disciplines. New Literary History 3, 409-419. Wasi, Safia. (2003, May). RNA Interference: The Next Genetics Revolution? Retrieved from: http://www.nature.com/horizon/rna/background/pdf/interference.pdf Wilson, Edward. O. (1998). Consilience: The Unity of Knowledge. New York: Vintage Books, Print. Citations
Editor's Notes
- Heart Disease: Changes on chromosome 9 of human DNA indicate a direct correlations to increased risks of heart attack (The Tech Museum of Innovation). Cancer: We know that mutation of proto-oncogenes (genes responsible for normal cell division and growth), result in uncontrollable cell division and growth, these cells can metastasize to different parts of the body (thus be malignant and cancerous). Additionally, mutations in tumor suppressor genes. Many pathological states (at birth or in life) can be linked back to genetics in the form of mutations or epigenetics. Whether it’s deletion mutation in a specific gene or substitution, or addition… changes our genetic fabric can draw consequences that manifest themselves in the form of anatomical pathologies.
- At this exponential pace, by 2020 it may be feasible mathematically to decode the DNA of every member of humanity in a single 12-month stretch. More importantly, what purpose does sequencing serve? How can we process genomic information? Utilize it to devise cures for chronic diseases? What use is genomic information. There’s isn’t currently a clear connection with pathology, many diseases are polygenic and rely on the interacts of more than one gene. The sequences and known mutations can only play, at most, a limited role even today.
- Pathology, but also in particular pathologies associated with specific organ-systems. There is a desire to make revisions at the DNA or gene expression level and prevent a cascade of downstream of events that would eventually result in some pathological condition or state. BUT… Where does current genomic research put us? Despite more than 700 genome scanning publications and nearly $100 billion dollars spent, geneticists still haven’t found more than a fractional basis’ for human disease from the genome. Ever since the first draft of the human genome was released in 2003, scientists are slowly beginning to realize that the genome isn’t just a human blue print, but rather layers and layers of regulatory mechanisms that govern the end result. We’ve also come to realize that nearly 85% of human DNA doesn’t encode protein (‘junk’ DNA), however we’re slowly unraveling that this DNA has regulatory roles for gene expression. Going forward, one of the main challenges that’ll surround breakthroughs in genomics will really be our understanding of genetic features and components and what implications they may have on: behavior, cognition, circadian rhythms, and physical fitness. There’s still a lot of unknown territory.
- To really put into perspective how little we actually know about the genome… About 10% of the genome has yet to be sequenced. So that’s DNA that exists but hasn’t been sequenced. Gene-environment interactions and epigenetic factors are poorly understood and hard to study in human populations. Mutigene effects are likely to be a common phenomenon, and account for a complete phenotype. ‘Rare’ genetic variants for certain diseases, are better understood as being surprisingly common.
- Douglas Merrill in a 2013 presentation, what we can sort of assume from this is that our data dredging as humans can potentially lead to the acceptance of inexistent relationships from large sets of data. This could inadvertently result in misdiagnoses and maybe even ineffective or incorrect treatment plans. Essentially we create room for error, and can miss the mark on some underlying genetic association with a disease. With the rise of a technological singularity and development of robust AI. AI have would the potential to process not only large sets of genomes collectively, but also individually and personal ones. Unlike the limitations of current computing technology and there reliance on human programming, self-aware, conscious, and developed AI will exceed the intellectual capacity of the human brain. Consequently, AI would take into consideration factors neglected, uncalculated, known or even considered by humans when processing genomic information. This would provide a much more whole understanding pathology and also pave the way for personalized treatment plans. Organization of genetic data may also make it more accessible for the purposes of research, when studying specific pathologies and their genetic influence more closely. Additionally, the strong processivity would allow AI to take a multiplicity of factors into consideration at once. Such as biostatistics, demographics, environmental factors, and genealogical comparisons- in addition to a persons genetics when looking at a diseased state. Existing bioinformatics issues are namely concerned with data storage, and analysis, AI would be able internalize the information, secure it and analyze –allow it to serve a multi-facetted function. So where then does the role of flesh and blood pathologists fit?
- With the enforcement of AI, improved understanding of genetic information, of both protein-coding genes, regulatory regions, mutations and multiple variants… genomics is an untapped potential in redefining what the limitations of being human essentially and our understanding of human ailments. Will we use genomics to formulate designer babes? abolition pain entirely? (as David Pearce had mentioned in one our course lectures) elevate world hunger? genetically enhance baby boomers?
- The United Nations estimates that nearly 870 million people of the 7.1 billion people in the world, nearly 1 in 8 people are suffering from chronic undernourishment between 2010-2012. There are numerous hunger associated diseases such as: iron deficiency (causing blindness and anemia), iodine deficiency (swelling of the thyroid gland/ in some cases doubling the necks size). These pathological states, parts of the body enter all tie back to starvation and impoverishing the body of essential nutrients. How then could bioengineering and sophisticated AI play-out in this context? Many proponents of the technological singularity, including Ray Kurzweil agree that cloning technologies in the future could create meat and other protein sources (in mass production) without animals, by cloning animal muscle tissues. his could significantly reduce the cost of food, avoidance of pesticides, and greatly reduce the environmental impact ensued by factory farming. Addition of specific nutrients could also serve as a preventative measure against diseases associated with malnutrition as well.
- Genetic engineering would give parents the option to modify their unborn child, not only could this pare offspring from disease, but conceivably, make them tall, well-muscled, intelligent, essentially blessed with desirable traits. This would not only serve to prevent the occurrence of congenital genetic diseases but rather enhance ones in-born features to resist disease and pathology in-life. This would be a dramatic shift to what’s available today, of course it would have numerous implications… Advocates for genetic engineering argue that it would eliminate disease, but also that intellectual and physical enhancements would better prepare our descendants for severe environmental conditions in the future. It would also better equip our descendants to deal with international political crisis’, healthcare problems etc. Opponents argue that this technology would take socio-economic divisions to a new level. The rich would prosper and the poor would continue to remain disadvantaged. There’s also the question of diversity, our diversity would dwindle to the point all humans are either “Ken” or “Barbie” or both. Another implication that arises from genetic engineering is whether our descendants would even be considered humans?
- What we’ve sort of established now, essentially a satiated, painless, super child. What’s interesting with this is that this presents a different outlook on the technological singularity, in this instant technology would necessarily become some external or even internal device that’s independent or linked to the body, but rather a direct means of fabricating human biology. We would essentially use technology as a means to genetically engineer and rapidly accelerate our own evolution. Our production and development transcends our control. This sort of goes back to the title in humanity becomes its own positive feedback loop. As the technology we established, now reciprocates that role in developing and improving us. Technological advances of the singularity would allow us to overcome existing human limitations. Of course this is only one possibility.
- If genetic information became so processible and accessible- would information on our individual susceptibilities for specific pathologies be used against us?
- Could this be a step towards ‘designer babies’. In our efforts to avoid mitochondrial diseases and highly pathological conditions inherited from the biological mother… Legalizing this bypasses the risk of the child inheriting any pathology from his mother’s mitochondria, by using the egg nucleus of the in-tended mother, a donor egg (with no nucleus) a child effectively has two mothers, but bypasses the possibility of mitochondrial diseases if his mother has known mutations.
- In simplest terms the Red Queen Hypothesis dawns in Lewis Carroll’s sequel to Alice in Wonderland, ‘Through the Looking Glass’. The dialogue goes as follows: “Well, in our country,” said Alice, still panting a little, “you’d generally get to somewhere else — if you run very fast for a long time, as we’ve been doing.” “A slow sort of country!” said the Queen. “Now, here, you see, it takes all the running you can do, to keep in the same place. If you want to get somewhere else, you must run at least twice as fast as that!” With biotechnology and the introduction of genetic engineering, could we be inadvertently introduce pathologies to the body? Or could we become so quickly adapted to our engineering we need to endlessly evolve? Could we end up in an arms race between genetics and pathology, where as one advances the other stays up to par? Regardless of how this relationship could play out, it is possible the two propel one another. Pathology catalyzes our desire to modify our genetic code, while genetic alterations could unbeknownst to us, create new pathological states. In this arms race, for us, it would become a matter of biotechnology and genetic engineering maintaining a step up, rather than having to catch-up to pathological developments.