How new web technologies and innovations are impacting our society

January 29th, 2012

The blog post today will focus on the impact that novel web technologies such as social media and search engine tools (i.e.: Google) have in our society. These tools have been used to track diseases and to better understand different trends online. If you are like millions (or billions) of people around the world that can access the internet, you somehow engage in internet-enabled self-diagnosis for diseases (among other types of queries) using search engines and other web tools. In today’s hyper-connected world, these tools are not just used to do self-diagnosis or track diseases in populations but to evaluate different topics that are discussed in social media (for example, trend topics in social medias such as Twitter, Facebook and others). First let’s analyze how a search engine can be helpful in predicting epidemic outbreaks of a disease caused by viruses or bacteria. Google Inc. did a very interesting study to evaluate if their search engine was able to detect areas that an influenza epidemic could be eminent (for more details see the article “Detecting influenza epidemics using search engine query data” on Nature). The study was very straightforward since it evaluated queries that were done at Google using keywords containing anything related to influenza. Using this approach, they were able to track areas that could be having an epidemic of influenza. Their results were compared to the CDC (Center for Disease Control, a United States government organization) in terms of which of them could get areas affected earlier and Google’s algorithm won. Google web search logs could provide one of the most timely, broad-reaching disease monitoring systems to date. Whereas traditional monitoring systems used by CDC and the government require 1-2 weeks to gather and process the data, Google’s estimates are in a daily basis. Now both Google and CDC work together in any disease outbreak showing how this tool can help the government in tracking disease outbreaks. The second tool that is revolutionizing various sectors in our society is social media. Two recent studies were able to show, using the Twitter platform, that we can monitor trends based on the posts of users. PacSocial, which is a corporation that is focused on the development of technologies that enable large-scale shaping of social communities online was able to use “socialbots” to influence connections and interactions between two users (see “PacSocial: Field Test Report” for more details). They were able, for the first time, to show how tools such as “socialbots” can influence human connection online. This study is crucial for a better understanding on how social media is shaping our society. Another study focused on Twitter users designed by professors from MIT (see “Modeling the adoption of innovations in the presence of geographic and media influences” recently published in PLoS ONE) examined the effects of social network structure innovation adoption creating a model based on geography and mass media. The authors showed that mass media was responsible for increasing Twitter users with time. Interestingly, the authors also show how powerful is the mouth-to-mouth spread of these medias between the young. Cities with the most early adopters of Twitter tended to have large universities or technology centers attracting younger people. Twitter was launched in the Bay area in San Francisco and the other users started to come from the east cost, basically Cambridge and Boston where both MIT and Harvard University are located. These reports on new technologies influencing society and decisions, especially in epidemic outbreaks, show how empowering search engines and social media have become to our society. I suppose that several other scientific studies, especially using the Facebook platform that now have more than 800 million users will be done. I hope that these new web tools will help our society in different ways, especially for disease monitoring. This could be important to understand the trends that are influencing our society online. (Image credits: Sociology World)

Sharing results in science – a new revolution?

December 29th, 2011

Science is generally a closed society organized into little circles of highly trained specialists, meaning that only a few specific minds engage to solve any given problem. The system is closed and is shaped in part by the force of tradition, but the larger challenge is that most scientific data is proprietary and the scientists are competing for the first place. A scientist works long and hard to generate original data, and then expects to get the reward in the form of publishing the first research paper to describe some new phenomenon. The researcher is not going to share his data with others, particularly strangers, any more than say, an investigative reporter would want to share his notes before a story has been written and published in the front page of The New York Times. Harnessing non-scientists to help in specific scientific problems requires sending your data out into the world – something that science is afraid to do. The scientist’s interest in keeping things private and getting credit, in other words, is directly opposed to society’s interest in tackling some problems with the help of the best minds. There are exceptions, such as large astronomical and biological data sets that are available for anyone. For example, particle accelerators have produced a new collaborative working model for science and globalization, with hundreds of specialists all over the globe working to solve a specific problem in physics. Most data generated by these experiments are stored in the “cloud”, using the advent of cloud computing. Biological databases that are supported by the US government, such as the National Center for Biotechnology Information (NCBI), store data from whole genomes of several organisms (including our genome) and are opened to the general public – something unusual. However, in the last 10 years, there has been a boom in technology that allows large numbers of people to do amazing and cooperative things with information, but the scientific establishment has taken only baby steps toward figuring out ways to share it productively. According to the former theoretical physicist Michael Nielsen that wrote the book “Reinventing Discovery: The New Era of Networked Science”, sharing in science will become something more common than we expect, specially now that social media is reshaping society. To encourage this shift, the federal government, which funds the United States research, has been pressuring scientists to work more cooperatively, in groups, and share more of what they find faster. In addition, there are nascent efforts within academia in order to identify ways that scientists might be recognized for their contributions to the community as a whole, beyond the publication of their individual discoveries. Scientists need to get rewards for what they are able to share – this will be the new trend in science. Cloud computing, the emergence of different types of social media and the possibility to transfer and share data faster and more reliably will open new ways of doing collaborative science. Society will gain a lot with this trend in science and technology. I believe that contemporary science will be all about sharing information. We might be experiencing now what will become the “open science” era. That is my hope…

Geniuses and creativity

November 29th, 2011

What it takes to be a genius and put your mark in history? How can we account for the sudden appearance of dazzling artists and scientists such as Leonardo da Vinci, Mozart, Shakespeare, Darwin, or Einstein? How can we define a genius? And what conditions or personality traits seem to produce exceptionally creative people in the history of humankind such as Abraham Lincoln, Vincent van Gogh, Salvador Dali, Howard Hughes, and others? Several research groups trying to understand not just the environment, life history and other personality features of famous geniuses, but also the brain of these people, have raised these questions. Famous artists, painters and people that created technologies that disrupted specific fields have strange personality and most lived isolated from society. Scientists have started to shed some light on why these historical figures are remembered in their fields. Geniuses have the ability to legate an impressive and influential body of work to future generations. However, strong creativity could be a link between genius and mental illness (Darwin was emotionally and mentally ill), high incidence of childhood trauma, especially loss of a parent, and genetic defects that are the cause of rare genetic diseases. An example is the american inventor and entrepreneur Howard Hughes. He was later diagnosed with a type of Obsessive Compulsive Disorder (OCD) that probably explains his obsession with perfection in designing airplanes. He was also known for his strong and strange personality. There is indeed a link between geniality and insanity. For instance, Darwin was a very lonely person with psychological distress. Vincent Van Gogh was also an eccentric person and socially awkward. The history of humanity has shown that the advancement of specific fields is accompanied by geniuses that are able to do things that disrupt the “status quo” of that time. Most of these individuals have some psychological problem, and science started to show that this could be explained by genetic defects and the presence of rare genetic diseases. Some studies claim that Salvador Dali had a mental disease that could be very similar to schizophrenia. Even Albert Einstein was not very comfortable with the impact that the relativity theory could cause to society. Einstein was a very isolated person and had sparks of depression late in his career. Interesting examples from our times include personalities such as Steve Jobs, Michael Phelps and Mark Zuckerberg. Steve Jobs, the CEO and founder of Apple, was adopted early in life. Jobs was extremely obsessed with product design and perfection as a response to childhood abandonment. This was probably a way to prove to the world that even with these personal problems he would succeed. An interesting example on how a genetic defect can give advantages to the person carrying it instead of being deleterious is the case of the swimmer Michael Phelps. He was diagnosed with a rare genetic disease named Marfan Syndrome (see article “Marfan’s Syndrome: Michael Phelps’ Blessing or Curse?“) which is characterized with long limbs and a different structure of the body compared to a regular person; features that were crucial for his 8 gold medal win in the last Olympics in China. The last example is Mark Zuckerberg, the founder and CEO of Facebook. Zuckerberg was elected person of the year by the TIME Magazine and has changed the “status quo” of social media in the internet. However, some analysts and scientists believe, mainly based on the way he talks and look at cameras in interviews, that his success could be attributed to a mild form of Asperger’s Syndrome. This genetic disease is in the spectrum of the diseases related to autism. The diagnosis was not confirmed yet, but Zuckerberg has several characteristics of a person with this disease. Well, to impact society and humanity with new forms of arts, technologies, theories, etc in a way that you will never be forgotten is something of a genius. The fact is that, as shown by the examples I gave, we need the “geniuses” in our society to improve fields such as arts, technology and science. If we look at the paintings from Van Gogh (illustration shown in this blog post), listen to songs from Mozart, analyze the planes that Howard Hughes designed, watch Michael Phelps swim and Zuckerberg create technologies that will impact in our society, we can conclude that humanity definitely needs a touch of a genius.

Illinois – a hub state for technology development and creation?

October 30th, 2011

We were always told that big technology drivers in the US are institutions such as MIT, Harvard, Caltech, Stanford and other well known for their disruptive inventions and creations. They are indeed very important with their creative environment and technology development. Companies such as Google and Facebook were born in Stanford and Harvard, respectively. Others such as Bose were created in MIT, and the list is extensive. Well, I live in Chicago, Illinois, in the Midwest area of the US and anybody would think the environment here is not very creative or full of innovations. I had no idea that Illinois was also a hub for creations and inventions, especially in very important areas of Information Technology (IT) and the internet. Since the beginning of the 1950s, for example, The University of Illinois in Urbana-Champaign (and not University of Chicago or Northwestern, as anybody would think…) has a legacy of IT Excellence at Illinois with several game-changing breakthroughs in hardware, software, algorithms, and networking. The story of re-imagining how humans interact with computers and with one another, and the power of having immediate access to millions of sources of information was developed in this environment (for more details check the link: http://www.it.illinois.edu/legacy/). These breakthroughs include the invention of the transistor in 1947, which is the precursor of the microprocessor used in computers today. John Bardeen co-invented the transistor while at Bell Labs and subsequently joined the Illinois engineering faculty and physics faculty, where he co-developed the theory of superconductivity. Professor Bardeen became the first person to win two Nobel Prizes in the same field (in 1956 for inventing the transistor and in 1972 for his work on superconductivity). The first computer entirely built and owned by an educational institution was also located in the University of Illinois in Urbana-Champaign. Other examples in the past include Illinois alumnus Jack Kilby (BS, 1947) that invented the integrated circuit, for which he was subsequently awarded a Nobel Prize. Interestingly, the LED concept and PLASMA screens that are used today in flat screen TVs were invented in the same university. The first practical visible spectrum LED was invented by Nick Holonyak, Jr. Don Bitzer and Gene Slottow, two Illinois alumni and professors, and Illinois graduate student Robert Willson invented the plasma display while working on the PLATO system (the first computer-assisted instruction system). In the 1970s, other technologies included the first parallel supercomputer, the UNIX system license from Bell Labs (which later became the LINUX Operating System). Importantly, in the 1990s, the first popular graphical Web browser named Mosaic (which later became Netscape and then Firefox) was developed by Marc Andreessen and Eric Bina while working for this university. It was initially viewed as an exciting new tool, but no one at the time could have predicted that its wide adoption would lead to e-commerce, online classrooms, downloadable music and films, and new worldwide communities of people with shared interests that we see today. Marc Andreessen later became an icon in Venture Capital investments and later founded a VC Fund that helps develop several other interfaces and technologies that are becoming companies of success today (see Marc Andreessen’s TIME Magazine cover when he invented the Netscape browser). Finally, alumnus Max Levchin co-founded PayPal, allowing payments and money transfers to be made via the Internet. In 2005, two Illinois alumni, Jawed Karim and Steve Chen, along with Chad Hurley, were co-creators of YouTube, which has had global impact on everything from popular culture to governmental policies on video sharing in the internet. I did not imagine how many good technologies came out from Illinois and maybe several people out there did not know either. But, Illinois is an important hub for inventions and creations in several aspects of IT and the internet. Who knows what disruptive technology will be invented in Illinois in the future and became a worldwide success? Let’s wait and see…

My thoughts on biomedicine in Brazil

October 19th, 2011

This blog post will focus on the recent cover of Nature Medicine discussing brazilian biomedicne and how the country – Brazil – has evolved in several fields but still lags behind in others (for a full story check the October issue of Nature Medicine). Well, I remember perfectly when I was studying in a private high school back in Brazil how difficult it was to enter in the best universities and get a degree (most of the universities are public and funded by the government, some are federal and some are state-funded). My high school was very good but expensive and my parents had a tight budget to maintain both me and my brother in one of these. Difficult times for them, but they made through it. It was also difficult to get into the public universities since we had (and still have) to do an exam (like in America, but here most universities are private). I passed the test and entered in one of the best universities there – the Federal University of Minas Gerais. I remember clearly that the first time I entered in one of the university’s building, it was falling apart… On the other hand, the parking lot of the university was full of fancy and expensive cars. The interpretation is that most students were rich and came from good schools. Moreover, when I started doing a training program in a laboratory inside the university, the infrastructure was awful compared to the ones I see in the USA. Well, I started my blog discussing about the Nature Medicine special and want to go back to this topic since I was interviewed for one of the articles (read the full story “Brazilians lured back home with research funding and stability”). There is no doubt that things in my home country are much better for academic research as discussed in these articles. Brazil contributes today with 2% of the world’s biomedical publication output; however this is slim compared to countries such as the USA and Germany. Even pharmaceutical companies are starting to invest in Brazil. Brazil is indeed becoming the 5th largest pharmaceutical market in the world (read the story “Brazilian drug companies hope to benefit from foreign investment”). I was brainstorming about this topic after reading all articles and came up with a list of pros and cons of doing academic research in each place. First, let’s start with the USA. Things that still attach me here are the quality of research that is done (even though we can expect the same in some places in Brazil such as the state of Sao Paulo, Rio de Janeiro, Minas Gerais and others), most laboratories are well-equipped, the environment is very competitive, publishing articles and patenting ideas is much faster and has little bureaucracy, and I see that the relationship between academic and private sectors is somewhat good and productive (one example is the Silicon Valley close to Stanford University where most tech companies are located, although MIT in Boston is also a good example). The cons that I can point today in the USA are the budget cuts by the government (believe me it is affecting everybody in academia), the tenure track system that is obsolete and broken (this is terrible for young scientist like me that are starting and have new ideas), and the system is very conservative giving a lot of priority to well-established scientists. In the case of my home country, I see a lot of improvement and the pros of coming back to do academic research there are that the system is improving with much more opportunities compared to the USA, more money is being spent with research (which is very little compared to the USA and Europe, but there was a huge increase during the past years), new companies (not just spinoff) are being created coming from academia (much more than before, but I believe that some started in the academic sector in the past; one example was Biobras that started in the 1970s in the Federal University of Minas Gerais). The government together with the Ministry of Science have created incentives and “packages” for young scientists to attract scientists abroad to come back and the stability in the job as an academic professor (which in the USA is not possible until you are tenured…) is also a plus. The cons of coming back are the same old problems I saw when I left. For example, the infrastructure in most places is terrible, the word “bureaucracy” works for everything and I mean everything; the salaries are still low (even though in the USA they are not outstanding…), the relationship between academic and private sectors are still bad, publishing articles and patenting ideas is a painful process and the most important issue for a citizen that was not touched in the Nature Medicine special – social problems and violence in the big centers are still frightening. The amount of poor and miserable people is still alarming and the percentage of people that goes to universities is low compared to the USA. I think Brazil’s economy and science as a whole has improved a lot, but it still has a lot of regulatory issues and problems that somehow keep me in the USA. These are just my thoughts on the American dream slipping away and the idea of coming back starting to tingle. One lesson I have learned is that no place is perfect and you always face difficulties and problems anywhere not just in science. If I am going back or staying here in America just time will tell. For now I am still here…

Genes, patents and arts – copyrights on our DNA?

September 24th, 2011

This blog post is a mix of a scientific controversy with an artistic vision. There has been growing concern with the idea of patenting or “copyrighting” genes from human genomes. The debate has been on and off after the sequence of the first draft of the human genome in 2001. Recently, it came back again after the company Myriad Genetics won a case in court for the patents of both breast cancer genes BRCA1 and 2. And what does arts has to do with genes and “copyrights”? The first artist to depict the structure of the DNA was Salvador Dali, who included DNA spirals in his surreal, phantasmagoric paintings in the 1950s. Dali was ahead of his time as most artists living in Europe, especially in Paris (for more information see the article “The art of DNA – Back to bases” in The Economist). It took the publication of Dr Watson’s book, “The Double Helix”, in 1968, the emergence of biotechnology and the manipulation of genetic material or “genes” in the 1970s, to edge the DNA molecule towards the centre of the public gaze. Since then, many artists have followed in Dali’s wake. Well, paintings, masterpieces, books, images and every creation and invention is patentable. But can we say that a piece of our own self, our DNA, the molecule of life is a creation or invention? Since it is already in our cells, the answer is no. The claim that lawyers are using is that as soon as the piece of the DNA corresponding to a gene is taken out of the cells and manipulated by molecular biology it could be considered a creation. Could this be? To understand this issue better we need to define how the word patent applies to genetics. A gene patent is a patent on a specific gene sequence, its usage, and often its chemical composition. The problem is that there is a big debate over whether these patents advance technology by providing scientists with an incentive to create, or hinder research by creating a lot of barriers and licensing fees to utilize research that is patented. In the case of both BRCA1 and 2, the company that holds the patents provides genetic testing for women that has familial history of breast cancer. This helps to identify the carriers of mutations and improve preventive medicine. However, the discussion is why just one specific company can hold the rights to a specific test? Should this be opened to other companies to reach more people with lower prices? The answer is yes I believe, but the law for gene patenting went to the other direction some years ago. The comparison with arts is that the creation and invention such as paintings or machines can be patented since they were designed from “nothing”. In the case of genes, even after being manipulated, they were already in our DNA inside our cells. In a NYTimes article by Andrew Pollack some time ago (“Ruling Upholds Gene Patent in Cancer Test”), the controversy is cautiously discussed and the decision on the patentability of genes and DNA was well accepted by most of the biotechnology industry. The point is that thousands of human genes have been patented, and some biotechnology executives say such patents are essential for encouraging innovation. Is that the case? In my opinion, genes are not a creation or invention even if they were manipulated by molecular biology. On the other hand, the genetic test used to detect the mutation or the defect in the gene is an innovation and can be patented. The controversy still continues since even though the court maintained the patents of both BRCA 1 and 2 to Myriad Genetics, court appeals will probably happen. For now, it looks like genes are still patentable. But we never know what the future holds for such cases…

Computers, internet and our brain – the extended mind?

August 17th, 2011

The history of the Internet started in the 1950s and 1960s with the development of computers. The beginning of the web was mainly point-to-point communication between mainframe computers and terminals and it was further expanded to point-to-point connections between computers. The internet has evolved since then and some even say that the web as we know it is dying or is already dead (see the Wired Magazine article about it – “The web is dead”). The web was very disorganized (and still is) until the launch of search engines with several links and lots of information spread all over the “cyberspace”. Search engines such as Google changed this by facilitating us in finding whatever we want in the web. If you want to search for a specific word or name, you just need to find a computer connected to the internet and type it. It is like magic and you get several webpages related to your query. The recent emergence of different types of social media such as Facebook, Twitter and others has made accessing information even easier and more organized. The web is evolving towards less entropy, and by entropy I mean disorganization. The information is becoming more detailed and the “socialization” of it is helping. Interestingly, the information stored in the web, especially in search engines such as Google and other databases has become our external memory source that we can eventually access at any time. Although the concept of knowledge seems to prime thoughts of computers, even when answers are known, we are becoming dependent on the computers and internet (see the article “Google Effects on Memory: Cognitive Consequences of Having Information at Our Fingertips” in Science, 2011). Studies have been showing that we are becoming symbiotic with our computer tools growing into interconnected systems to remember less by knowing information where it can be found; for example googling it. Another example of connection between our brains (or mind) and the computers are studies that the brazilian born scientist Miguel Nicolelis and colleagues at Duke University are conducting. They were able to taught monkeys to use brain signals to control the movements of a robot on the other side of the world (Nicolelis MA. Brain-machine interfaces to restore motor function and probe neural circuits. Nat Rev Neurosci. 4: 417-422, 2003). The researchers trained some of the monkey’s neurons to “adopt” the machine’s locomotion as its own. This is a strong and physical example on how we can become more and more connected not just to the information that computers provide us today but, to a further extent, hybrid systems of man associated to machines. Our society is becoming totally dependent on the computers and how they bring us the information we need at the exact moment we want. This unification of our brain with the machines (computers in this case) is slowly taking place and changing human evolution. I wish I could live for more than a century to see what is going to happen then…But I am just a human being like any other, not a machine-man.

The dancing “noncoding” universe

July 31st, 2011

Today my blog post will be devoted to a very controversial topic not just in physics, but also in biology. For those who do not know, both biology and physics have what we call “dark matter”. Whereas cosmological dark matter represents the gravitational effects that cannot be explained by known bodies in the universe, genomic dark matter emerged from the application of new technologies to the analysis of the transcriptome (all genes expressed in a genome), and could not have been inferred from any known biological principle. In physics, it represents everything that is not matter (basically, matter is any substance which has mass and occupies space in the universe such as the planets, us, etc; and the “dark matter” represents everything else). In biology, it corresponds to regions of the DNA in living cells, especially humans, which are noncoding or do not code for proteins (our building blocks in the cells). The dark matter in both fields account for more than 90% when compared to matter in the case of physics and to regions of the DNA that produce functional elements such as proteins and regulatory RNAs in molecular biology. The term “dark matter” was postulated by a researcher named Fritz Zwicky in 1934 to account for evidence of “missing mass” in the galaxies. At first, researchers thought that both “dark matters” had no function or did not represent anything important, just something that was there. Nobody knew why. However, it is becoming clear that “dark matter” plays a central role in state-of-the-art modeling of structure formation and galaxy evolution in astronomy. The same way, in biology, parts of DNA that were considered “junk” probably have functional importance. Studies have been showing that more than 50% of eukaryotic genomes is transcribed into RNA, but these are not translated in proteins. A recent editorial piece from BMC Biology (“The noncoding universe”, BMC Biology 2011, 9: 52) have discussed this topic claiming that the “dark matter” of genomes probably have function and are evolutionarily important for humans. Maybe they could also explain human complexity (for more details see the article that I wrote about this topic – “Non-coding RNAs, epigenetics and complexity”. Gene 2008, 410: 9-17). The debate on the functionality of “noncoding” parts of genomes recently took central stage in several debates in the scientific community with articles and editorials covering this topic. Some believe most of the transcribed regions of genomes represent by-products of the transcription itself and have no function. Others believe non-coding regions generating non-coding RNAs are important for gene regulation and even in evolution. Growing evidence with examples of RNAs coming from the “dark matter” of the genome that are functional and have roles similar to that of proteins have surfaced. But what function really means in genomics? What can be a good definition for function? Well, if gene expression control relies on the expression of non-coding regions for genome stability, maybe genome stabilization could be assigned as a function. The controversy will continue for some time, but in my opinion the noncoding regions probably have roles we do not even imagine yet. Similarly to the “dark matter” of the universe in physics, noncoding parts of genomes are still full of mysteries. This is a very philosophical controversy – the same way the universe, which is big, has a “dark matter”, the very small in the cells, specifically the DNA, have the same conundrum. The next years will be very exciting since researchers in these fields will try to understand both “dark matters”. The future is promising for astronomy and molecular biology…I am excited with this debate!

Genetic Tests: facts and fictions

June 23rd, 2011

Are you more susceptible to developing cancer? Are you getting heart disease? Is obesity in your future? Your risk for many diseases and health conditions is just partly written in your genes. One day soon we will be able to visit our doctor and find out more about our health risks for the next years through genetic testing. But scientists (and I am included in this category) have many things to learn about genes before this becomes a reality. Genetic Testing regulation turned into a controversial topic after the FDA in the USA blocked some Over The Counter Predictive Tests and started paying more attention to this market. Several companies have been offering predictive genetic tests (examples are 23andme, Navigenics, Pathway Genomics, and others); however the tests they offer can be misleading in some cases. This is mainly because the environment plays a role in complex conditions. Genetic Tests for monogenic disorders such as Cystic Fibrosis, Huntington’s disease, etc are well established and reliable in most of the cases. In monogenic disorders, the affected individual will have a mutation or a genetic defect in a single gene or just a few making it easier to detect the underlying problem. In the case of predictive tests for complex diseases such as diabetes, cancer, arthritis, and others, several genes and the environment can affect the condition making it more difficult to get conclusions. I am not saying the consumer should avoid doing these tests; they just need to be careful and if some defect is detected they need to verify the veracity of it. Predictive Tests in some cases have a lot of support in the literature for the analyses, but in most of the cases there is no scientific evidence. Some say these tests are “recreational”. I think this is a start for an area that is not very explored yet. The companies offering these services have to mature and the beginning is always difficult. I believe that what needs to be done is a better explanation to the consumer on how these tests work, what they are really paying for and a better support after they get the results. Whole Genome sequencing companies such as Knome offer the sequencing of a person’s genome with a follow-up to explain the findings. In my opinion this is good; however there are a lot of regions in the genome that we do not understand yet. In fact, these companies are offering services coupled to research. The person that pays for whole genome sequencing will sign a consent form if he/she wants that the sequenced genome become public and available for research. Maybe that is a good way to better understand human genomes. In the case of genetic tests, the results could be a “Yes” or “No” answer but for most of them it will be a “Maybe”. This happens mainly because we are realizing that the environment has a big role in interacting with genes. In conclusion, the increasing need for regulation is a fact and there is still a lot of fiction in several of these tests that companies are offering (one example is the Genetic Tests for Sports Performance; well, genes are important, but the environment that can be exemplified by nutrition and training are also important factors). I believe we need to start somewhere and that is what is happening right now. Let’s see how the regulation will shape the genetic tests’ market from now on. I am curious…

The battle between our genes and the environment: our DNA isn’t our destiny

May 15th, 2011

DNA does not make who we are, this is a fact now. Forget everything you know or think you know about genes. Recent years have accumulated scientific evidence suggesting a completely new paradigm based in the influence of the environment in changing our fate and destiny. The environment includes the diet, smoking, lifestyle, etc. Of course the genetic background is very important, but recent studies have been showing a different side of the history which is basically linked to an exciting field named epigenetics. This field studies the relationship between the environment and our genes at the organismal level. At the molecular level, it represents changes in our genetic material, especially the DNA, which modifies the structure of it without changing the blueprint of the sequence. Epigenetics has a major impact in changing gene expression and is affected directly and indirectly by the exposures we have before and after our birth. The findings in the field of epigenetics represent perhaps the most important discovery in the science of hereditary since the discovery of the gene. One classical example of the impact of the environment is the effect that the mother’s milk has for newborns (see the article “Mother’s milk: A rich opportunity” in Nature, 2010 by Anna Petherick). It is clear that breast milk feeding can affect brain development of the infants mainly as a consequence of changes in gene expression. These changes are mostly associated to compounds in the mother’s milk that affect the epigenetic mechanisms in the babies’ DNA. Lack of breast-feeding is also associated to increased risks of diseases such as diabetis and auto-immune disordes. In addition, a large study named ALSPAC (Avon Longitudinal Study of Parents and Children) has offered important insights on how the environmental pressures can influence health and development: baby lotions with peanut oil may be partly responsible for the rise in peanut allergies, high maternal anxiety during pregnancy is associated with later development of asthma by the kids and little kids who are too “clean” or living in a clean environment can have increased risks for eczema. Interestingly, epigenetics also pose a challenge for evolutionists since it brings back some of Lamarck’s theories and give us cards to play (if we are playing poker in the game of evolution…) against Darwin and his hypothesis. Lamarckism proposes that the environment directly affects the organisms and that the acquired changes can pass through generations. On the other hand, Darwin argued that evolution works indirectly through impartial selection – the more adapted would live and procreate. For a classical example, Lamarck believed that giraffes acquired long necks because recent ancestors had to get food in high trees that were rich in nutrients. For Darwin, long necks of giraffes evolved during millennia because genes for long neck had slowly gained advantage to these animals against their “competitors” with shorter necks. The conclusion is that our destinies are a product of a complex interplay between our genes and the environmental stimuli dynamics, such as the influence of our parents lifestyle, our lifestyle, diet and places we had lived. It will take geneticists several years to work out all these new implications, but we can be assured that the age of epigenetics has arrived to stay!