Archive for the ‘Society’ Category

Rare Diseases: a parent’s journey

Friday, February 2nd, 2018

Journey is really the best word.  Thirty years of researching, detoxifying the home environment, creating an organic, colorful and nutrient rich diet, increasing the oxygen infusion in the blood and to the brain, employing creative hands-on learning techniques, and working through day long sessions of physical therapy and yet there was always that feeling that we were riding a roller coaster. The neurologist had told us to expect that wild ride when they attached the diagnosis of Lennox-Gastaut Syndrome (LGS) to my daughter. “There will be bad periods of seizures and then things might get better, just for a while. Keep in mind, LGS is just a description of a group of signs and symptoms often found together in patients, it is not the organic cause for her symptoms,” he explained. For us as parents, it was a holding pattern or a waiting room, until someday we might know the real cause. That cause was to remain a mystery until just after her 30th birthday. The wait came with a good deal of wondering.  Could we have…What if… Should I be doing this or that…? Most of these questions had to do with whether we were doing our best for our precious daughter.  She was ten when a sense of peace came over me, not based on my understanding of the problem but based on faith.  This was not about whether I could solve the medical mystery; that was not going to be my discovery to claim.  Instead it was about being faithful to the care and love for my daughter.  And so we kept current on the science and dove even more deeply into the care and relied on physicians and therapists who stood beside us steadfastly. And the doctors were right about the roller coaster. There were real victories for her: she went from an ataxic awkward walk to a 12 minute mile run, single words changed to complete sentences, unable to get free from gravity to 500 jumps in a row, holding her breath in the pool to a water worm, and not recognizing letters and numbers to reading and understanding at the 5th grade level! But there were low points too, countless medication changes, daily shots for growth and allergies, loss of her front teeth as her cerebellar atrophy progressed, and most significantly, the ruptured appendix and unrelenting seizures that necessitated four successive hospitals over three months, and an induced coma resulting in paralysis. She is wheelchair bound now but still wakes every morning with joy on her face ready to take on her job, a full day of therapy, she is determined to  make more progress.  Her indomitable optimism, faith and humor have enriched all of our lives. There have been sacrifices.  Her dad has been her fearless hero with his tickles and his nicknames, her sisters have fed, slept with, and helped her with therapy when they could have been with their friends, family members have cared for those precious sisters in our absence when she was hospitalized, a law career was shelved, ball games were missed and vacations cancelled. But she has been as inspiration to all of us and has had an adhesive affect that has joined our extended family at the hip. She is our hero. We felt that someday we would know the cause of her problem and that day finally came on August 16, 2017 in the form of a genetic test and report showing a de novo mutation in the KCNA2 gene, a gain of function mutation that interferes with her brain. As far as I can tell there are seven other people in the world with the R297Q mutation.  Because of privacy rules, I have not found them, yet, but while I search, I am researching tirelessly. And when I find them (and will!) I will be armed with information to share as we march to finding a treatment together.  We are not going to ride the roller coaster anymore, we are going to put on our running shoes, find our team mates and jump the hurdles until we find hope help for my beloved daughter and for the young children whose full and happy lives will be ahead of them.

This Blog Post was written by a Mom and her journey with a daughter diagnosed with a rare genetic disorder. I will not disclose the name of both the mother and daughter for their privacy. If there are other parents, relatives and/or patients with this disease and this specific genetic mutation described here please “Contact Usat Genome For more information on rare disorders please check my last article entitled “Rare Genetic Diseases: Update on Diagnosis, Treatment and Online Resources”.

 Image Source: Global Genes – a Rare Disease Initiative

Science, Innovation and Entrepreneurship Globally

Monday, July 25th, 2016

By Octavio L. Franco, Ph.D.

Professor and Researcher at UCB and S-Inova

In Brazil, science and research have always been associated to heavy expenses and the lack of short-term results. It is a big mistake to think that science and technological breakthroughs should not be a priority, such as education, health and safety. We just need to analyze developed countries and see the differences and benefits that technological developments could bring. Last month, the prestigious Scientific journal Nature published a nice compendium of the benefits of technological developments and science for some countries. Of course, the development in this direction comes from a well-structured partnership between the three main players that include universities, the government and companies. Each of these entities has their own culture, forces and motivations. Universities and their researchers are charged to give a response to public investment for the development of innovations, the government should notably be involved in solving the problems of his citizens and companies are always pressured by competition to bring better and more competitive products to the consumers. Thus, with multiple qualities and motivations, the combination of these three can be extremely synergistic in a very powerful way. Although this combination is extremely successful, there are difficulties so that development can occur with success. First, communication between professionals can be difficult and necessary connectors are professionals who can move the flow the information in and between different fields. Second, the combination of ideas and the implementation of them are required, since without creative dreams nothing changes, but also without execution nothing happens. Third, it is essential a high financial investment to mobilize the changes in these 3 players cited above. Financing science in Brazil is almost in its entirety made by the state and the government investments. On the other hand, there is a strong rise in countries like China, in which technological development is funded by approximately 35% of its resources by companies that require the generation of innovative products. Moreover, patents and/or trade secrets, bringing in improvements to these three players are able to protect these technological innovations, products and processes that are developed by them. In addition, the champions in this endeavor have been Israel and South Korea, consisting of nations with high technology development capability. Furthermore, small companies have been encouraged to start within the academic environment to further unite researchers and entrepreneurs, further expanding the entrepreneurship efficacy. In this aspect, the champions are the United States of America (USA), with over a thousand new startup companies founded in 2015. In the USA, there are innovation clusters where universities and companies are placed side by side in locations such as technology parks and geographic proximity brings real human and technological development. It is noteworthy that Brazil does not appear in any of these rankings and this fact shows that we are getting backwards. It’s time to take our nation to a stronger and consolidated state on science and technology. Technology has been changing man’s life since the discovery of fire and the bow and arrow. Technological development brings knowledge and knowledge brings power and better living conditions for the citizens. Nowadays, discoveries in the laboratories can really change the world, but only if these discoveries are transformed into real innovation. Science is vigilant on our side, acting wisely to solve the problems of our society. So, we need to take action now. Brazil, wake up for Science, Innovation and Entrepreneurship!

Reposted from the Article in Portuguese published at the Brazilian Newspaper “Correio do Estado”

Zika Virus, Microcephaly and Brazil

Sunday, February 14th, 2016

The first indications of a connection between Zika virus and the current outbreak of microcephaly in Brazil were picked up by the HealthMap System in Portuguese alerts on November of 2015. By Saturday, November 28th, the Ministry of Health in Brazil confirmed the connection that the increase in infants born with microcephaly could be contributed to transmission of the Zika virus in pregnant women. The link was first detected when Brazilian health authorities found traces of the Zika virus in a deceased infant born with microcephaly. And what is the Zika virus? How is it transmitted? The Zika virus is a mosquito-transmitted infection related to dengue, yellow fever and West Nile virus. It is transmitted by the Aedes Aegypti mosquito bites. Although it was discovered in the Zika forest in Uganda in 1947 and is common in Africa and Asia, it did not begin spreading widely in the Western Hemisphere until last year, when an outbreak occurred in Brazil. Few people have immune defenses against the virus, so it is spreading rapidly. Millions of people in tropical regions of the Americas may now have been infected. The possibility that the Zika virus causes microcephaly – unusually small heads and often damaged brains – emerged only in October, when doctors in northern Brazil noticed a surge in babies with the condition.  It may be that other factors, such as simultaneous infection with other viruses, are contributing to the rise; investigators may even find that Zika virus is not the main cause, although right now circumstantial evidence suggests that it is. It is not known how common microcephaly has become in Brazil’s outbreak (for more details check the NY Times article “Short Answers to Hard Questions About Zika Virus”). About three million babies are born in Brazil each year. Normally, about 150 cases of microcephaly are reported, and Brazil says it is investigating nearly 4,000 cases just from November of 2015 until now. Yet reported cases usually increase when people are alerted to a potential health crisis. A recent scientific report has shown strong indications that the Zika virus is present in the brain tissue combined with the clinical signs and symptoms such as microcephaly in a fetus (for more details check “Zika Virus Associated with Microcephaly”). In that case report, an expectant mother who had a febrile illness with rash at the end of the first trimester of pregnancy while she was living in Brazil was analyzed. Ultrasonography performed at 29 weeks of gestation revealed microcephaly with calcifications in the fetal brain and placenta. Microcephaly was observed, with almost complete agyria, hydrocephalus, and multifocal dystrophic calcifications in the cortex and subcortical white matter, with associated cortical displacement and mild focal inflammation. Zika was found in the fetal brain tissue using molecular biology tools, with consistent findings confirming the clinical observations. The complete genome of the Zika was recovered from the fetal brain and sequenced. Even though it is early to draw conclusions, the presence of the virus in combination with the clinical diagnosis in the babies is clear. However, cause and consequence is still very unclear. Brazil is in the epicenter of this epidemic caos, especially because the cases are increasing very fast. The government is taking measures to fight the mosquitoes that transmit the virus, but similarly to dengue fever, it has been difficult to eradicate viruses that are transmitted by this mosquito. In addition, further scientific research in Brazil and other countries are taking place to better understand the potential implications of these connections between the virus and the clinical findings. It is likely that the rapid spread of Zika virus around the globe will be a strong impetus for collaborative research on the biologic properties of the virus, particularly since the risk of neurotropic and teratogenic virus infections places a high emotional and economic burden on society. Brazilian scientists have a lot to learn and offer. Now it is time to collaborate and get more answers!

Image Source: National Geographic

Fostering Innovation to Address Social Challenges

Monday, December 28th, 2015

Innovation has long driven advances in productivity and economic growth. While it is true that the contributions of innovation have not only been economic since innovations in industry have liberated workers from difficult and dangerous tasks through automation, it is also true that much of the thrust and focus of efforts to mobilize innovation have focused on economic objectives. However, this is changing as entrepreneurs, firms and public research actors recognize that modern economic growth must go hand in hand with societal progress. Innovation is often defined as the process of translating an idea or invention into a good or service that creates value or for which customers will pay. In order to be called an innovation, an idea must be replicable at an economical cost and must satisfy a specific need. Innovation involves deliberate application of information, imagination and initiative in deriving greater or different values from resources, and includes all processes by which new ideas are generated and converted into useful products. In business, innovation often results in ideas that are applied by the company or industry in order to further satisfy the needs and expectations of the customers. Today’s global challenges – from climate change to unemployment and poverty – are both economic and social. The recent economic crisis, which finds part of its roots in financial innovation, reminds us of the importance of mobilizing Science, Technology and Innovation (STI) not solely for generating economic benefits, but also for anticipating and responding to social problems. In this last blog post of the year 2015, I will discuss a little about why Innovation is so important no just in businesses but also to address several social challenges we have been facing these days. First, one important and new professional accomplishment for me as an Entrepreneur, Professor and Academic Researcher – I was named for an important position associated to Innovation. I was appointed as the Director of Innovation at UCB, the University I teach in Brasilia, Brazil since the Dean and the Board of the University identified this sector as an Important piece inside this Educational Institution to foster advances in Education and help students in personalized learning. This will be important, especially for students of the BEPiD Program that I am a Project Manager. Innovation is an important part of companies such as Facebook, Google, Microsoft, etc, but it could be also applied to non-profit organizations. The recent news that Mark Zuckerberg and his wife just founded the Chan-Zuckerberg Foundation (check this article from TechCrunch “The Chan-Zuckerberg Initiative May Be More Important Than Facebook”) has shown that this could be also applied to non-profit Institutions. Why am I mentioning it? Because Educational Institutions run like non-profit organizations and this new model will impact them too.  For that reason, the way Foundations work is changing a lot  since they will have both a “charity” side and a for-profit side. The Chan-Zuckerberg Foundation is an LLC and could Invest and Partner with both Companies and non-profit Institutions creating a Model with more flexibility. Zuckerberg already donated money to the Educational System in New York State and now he and his wife want to accomplish much more. Their initiative might be more important than Facebook itself. Raising money by Academic and Government Grants for social causes and research has become old-fashioned. Billionaires and Millionaires will “donate” their fortune to Research Institutes and Non-Profits and fund whatever they want without any money from Agencies and the Government (of course the Government will still play a role, but in different ways). Why is that? A justification is that budgets of all the charitable non-profits in the world combined equals only 0.0001% of all assets invested in business through the capital markets; and most Foundations from the United States only allocate 5% of their assets each year to problem-solving. To transform education (for example, in an University such as the one I work in Brazil), feed a planet of over seven billion people, or cure chronic diseases such as cancer, traditional non-profit Institutions will only ever be a tiny piece of the global puzzle.  Why is this so important? Over the past decade, thanks to a combination of philanthropy, investment, and policy, we have seen a massive transformation in Innovation in several sectors, especially Education, worldwide. Another example of a major player in this transformation is the Bill & Melinda Gates Foundation. But I believe this is just the beginning. I am very proud to start becoming a part of such an Important position related to Innovation and will follow this new trending Model to tackle social problems. So, Innovation will kind of “drive” me next year. I will keep posting updates on the Innovation Direction at UCB in Brazil. It will be a big challenge for me in 2016!

Image Source: Huffingtonpost Technology

Science matters! and why you should help…

Sunday, September 27th, 2015

Science is fundamental and ubiquitous. It underpins a multitude of different disciplines including Engineering, Medicine, Environmental Studies and Agriculture. The impact of Science is felt almost everywhere. Science affects our lives in numerous ways as it underlies many of the life-improving advancements mankind has made and virtually all of the technologies we take for granted in our daily lives. Given the pervasiveness of Science and its potential to impact us so greatly, it is important that everyone in a Society and in the World have at least a basic understanding of Science, its strengths, and its limitations. The bottom line is that Science really matters! Some time in the next days you will pick up a Newspaper and see headlines such as “Major Advance in Stem Cell Research” or “New Cancer Drug Saves Lives”. Indeed, the impact of basic and translational science is empiric. But, when some new technology is released and reaches the masses or someone in our family gets sick with a disease we try to get as much information about that specific subject as we can. Important to know is the fact that to get to a Successful discovery or new technology takes time. It demands lots of people working in that problem and tons of money. And who pays the bill? Well, taxpayers have part of their money allocated to academic science and there are some Foundations and Private Companies supporting research. However, the bulk of the money invested comes from the Government (State and Federal Tax). So, society needs to understand where this tax money is being invested. Unfortunately, for now, there are no direct ways for general people to understand about research going on in Academic Centers and how they could be applied. Why I think you should care? I think mainly because it affects everybody. Science and Innovation are in the foundations of developed countries; they depend on it. Academic research is suffering several setbacks with cuts in spending from Governmental agencies not just in the USA. In Brazil, the economic crisis is affecting research deeply. The average citizen needs to comprehend and understand the basics of the scientific world and we still do not have tools to do that. However, crowdfunding and crowdsourcing appeared as an interesting way to help funding science. In this model, anyone can invest in Scientific Projects with potential. Ph.D. Students, Post-Doctoral Fellows and Principal Investigators see this way of funding getting some momentum now that the government has cut funding resources. I believe that this model will get better and people in general will understand more what we as scientists do. Science really matters, not just for you and for me, but for a whole nation. So engage, read more, understand what a scientist do and how the research project being developed by specific researchers can (or could) impact your life or society in general. We need your help right now! (Image Source: The NY Times Magazine)

Brazil, Soccer & Science

Friday, February 6th, 2015

Brazil is changing. Once the soccer country with five World Cup Trophies, it lost to Germany in the last World Cup in 2014 and did not impress the world like it used to. Soccer is changing. European countries, especially Germany, have been training, building infrastructure and a lower base of young professionals that was able to win big last year. Following this trend, science is also changing. Brazil won the first “big league” prize in a scientific field – the Brazilian Artur Avila won the Fields Medal in Math in 2014. This International Prize is comparable to the Nobel Prize, but in this case for Mathematics. Brazil never won a Nobel Prize in Science or in any field. We are a developing country that plays soccer well. But, not anymore… In this blog post I will discuss how Brazilian Soccer and Science have been changing. I will also discuss examples of scientists that have International recognition and do research in Brazil or in the United States. Brazil is still a poor country with several problems; bureaucracy, corruption, lack of investments, violence and poor education. But, as a Brazilian, I’ve learned one thing after living abroad for a decade: we are very creative people. We can solve problems in a different way. There is also an expression for this in portuguese: “jeitinho brasileiro”. Last year Brazil lost the biggest tournament and a source of hope in a country full of maladies: the Soccer World Cup. Brazil lost in the semi-finals to Germany in the most outrageous game score ever: 7×1. Who would imagine that? Is Brazil loosing the “jeitinho brasileiro” in Soccer? The answer is yes. What makes a country good at soccer? (for more read “The Score” article about this subject). The answer is that there is no formula or rule. If you can’t study or be educated you just go and play soccer with your friends in your neighborhood. It is simple like this. But that is somehow changing. The country has changed. Artur Avila showed last year, the same year we’ve lost the World Cup in the worst manner ever, that we can win big in Science (for more check the Fields Medal Website: “A Brazilian Wunderkind Who Calms Chaos”). He won the most prestigious International Prize in Math studying the Chaos Theory. This indicates a trend: Brazil is getting better at science and loosing the soccer skills. This can’t be quantified right now, it is just my “very” subjective observation. In my last blog post I have criticized science in general and how the system is broken (for more see “Science is Broken”). And it is. But, there are some things happening here and there. Artur Avila is an example of a scientist living in Brazil (he travels to Paris, France every month to lecture and do projects in collaboration in Europe but resides in Brazil). Another example is the Brazilian Scientist living in the United States Miguel Nicolelis. He has everything to do with soccer. His research provided the resources necessary to build a machine-man interface that was used in the World Cup’s first game (see the TED Talk by Miguel Nicolelis: “Brain-to-Brain Communication has arrived”). He is a Professor at Duke University and is building a Neuroscience Program and Institute at the city Natal in Brazil. He built a Mind-controlled robotic suit that a paralyzed patient was wearing to do the first kick in the opening game of the World Cup. That is an example of a scientist from Brazil living abroad that is researching amazing things in the field of neuroscience. He was able to unite the passion of Brazil, soccer, to science (for more information check “World Cup to Debut Mind-Controlled Robotic Suit”). Thus, things have been changing in the soccer country. Maybe that is a good sign: we are getting better in science and worse in soccer. Using our minds, not just our legs to play. I believe this is just a tendency, but it is definitely a big change for Brazil. Brazil is doing science better for sure. The best part is that with less and less resources. But we, Brazilians, are creative. We always find ways to make things work.

Science gets a little help from the Crowd

Sunday, August 11th, 2013

The basic definition of crowdsourcing says that it is a process that involves outsourcing tasks to a distributed group of people. These tasks could be online or offline, paid or for free, and they are outsourced to an undefined public. So the idea behind crowdsourcing is that the more people working on a specific project, the better, faster and more varied results will be achieved. The two common functions offered by crowdsourcing are the distribution of large sets of work, and the democratization of opinion gathering, since different groups of people will be able to participate. Interestingly, crowdsourcing channels the experts’ desire to solve a problem freely sharing the answer with everyone. Different projects in a variety of fields have been using crowdsourcing. Examples include projects like GalaxyZoo in astronomy and Encyclopedia of Life in biology. Even the toy company LEGO had its own crowdsourcing project to get input on the most common designs made by customers using their building blocks. In a similar manner, crowdsourcing has been pointed out as a solution to seek for drugs that are effective for specific diseases using big data analytics. The same way crowdsourcing uses “crowds” to solve problems, crowdfunding raises money for projects from different people, mostly via web. It gives everybody the ability to raise money from a collective group of people who are connected through the internet and want to support a specific project. Successful crowdfunding platforms include Kickstarter, Indiegogo and RocketHub. However, can we use both crowdsourcing and crowdfunding in Scientific Projects? Well, since science is a very closed community with several “rules”, I would say at first that it would never work. But, recent cuts in federal funding are helping it become reality. Platforms such as Microryza, founded by two University of Washington graduates in Seattle, is one of the first crowdfunding sites for science. About 80 projects have already raised a combined U$ 200,000 through Microryza. Another specific example is uBiome, which is using crowdsourcing and crowdfunding to sequence and catalogue the microbiome of different people that is willing to participate in their project. Science is typically funded by peer-reviewed grants, however with the advent of the internet, new technologies and social networks, general people is getting the power to do the same. The scientific field could gain a lot from these types of approaches. The only risk is that the public will fund projects that are around themes or topics that they can more readily understand, such as research into Alzheimer’s disease, cancer, diabetes, while other projects may be ignored. We will see. I think that alternatives for federal and governmental funding such as those are really warranted. The use of “crowds” and the general public could be a nice and socialized solution to solve the funding problem in Science.


Celebrities, Cancer and Genetics

Tuesday, May 28th, 2013

It is interesting that it takes a celebrity, in this case the actress Angelina Jolie, to increase our awareness about a disease that kills millions around the world every year. The statistics is clear: one in three women will develop a breast neoplasm during their lifetime. Yes, I am talking about cancer, in this case, breast cancer. Angelina brought to the spotlight last week what nobody wants to talk about, or discuss, or think. The cover of TIME magazine on May 27 showed to the world how some decisions are bitter in our lives, especially when our loved ones suffered and died without knowing more about it (see more on TIME Magazine “The Angelina Effect“). Angelina was able to open a discussion around the world about breast cancer prevention (see the NYTimes article “My Medical Choice”). Breast Cancer is a disease that was once a malady of the “old”, but with more awareness it is clear that it can affect anybody at any age – you just need a defective gene. Genetics is key in some cases, especially when the disease runs in the family. Cancer is classified as “The Emperor of all Maladies” in the Biography of Cancer written by Siddhartha Mukherjee. This disease is as old as humans and the story of cancer is a story of human ingenuity, resilience, and perseverance, but also of hubris, paternalism, and misperception. Angelina was able to expose herself in a way never seen in a Hollywood Movie that she had a main role. She was able to show the world how genetics is becoming part of our daily lives, something that not even a scientist working to find a cure for cancer is able to do. Science tells us the history of the genes involved in hereditary breast cancer: BRCA1 and BRCA2 were identified in the 1990s, more than 20 years ago (for more information see the review article “The Genetics of Familial Breast Cancer“). Interestingly, methods to diagnose the likelihood of a person with mutations in BRCA1 and BRCA2 getting cancer were covered by patents owned or controlled by a company called Myriad Genetics. Myriad’s business model of exclusively offering the diagnostic test led from Myriad being a startup in 1994 to being a publicly traded company with 1,200 employees and about $500M in annual revenue in 2012. It also led to several controversies over high prices and the inability to get second opinions from other diagnostic labs, which in turn culminated in landmark lawsuits and big discussions about gene patenting (see more in the article from The GuardianAngelina Jolie’s cancer decision highlights row over genetic technology”). This is a discussion that is around for a while, since the Human Genome was sequenced in 2001. Importantly, the health care providers do not cover some of the genetic tests already available in cases like Angelina’s, since the tests are very expensive. So, how everybody with a family history for defective genetics will be tested? And how many celebrities like Angelina will take to make general people more aware of the revolution in preventive medicine that just started? I think that Angelina’s choice was the best decision, since her mother died at age 56 and her aunt just died recently of the same malady. This fuzz about Angelina’s choice was a good thing, since it is educating people about genetics, cancer and the decisions we have to make based on our family history. This could even change the scope of genetic testing for breast cancer genes, who knows? Unfortunately, somebody famous has to take the center stage to start a discussion that will probably affect every human being during his or her lifetime. Society will gain a lot with more awareness about this deadly disease. Thanks Angelina, that was a good choice for you and for all of us! (Image Source: TIME Magazine).

This Blog Post is dedicated to my brave mom Angela Falconi

Silver Linings, epigenetics and our environment

Tuesday, February 26th, 2013

After watching ‘Silver Linings Playbook‘ based on a book with the same title (the movie received eight Academy Award nominations and Jennifer Lawrence got one Oscar for her amazing performance as Tiffany) I just figured: Whom can we call as a normal person? I think that to a level we are all screwed up in the mind. We all tweak our mind to live in society; we all have our little “OCDness” and bipolarity. ‘Silver Linings Playbook’ touches something that society prefers to keep in a safe; it is ugly to say that you or a family member has any kind of mental illness. However, the world today is somehow bipolar. We all need to handle a “wired” world and be successful in all tasks at work, at home, etc. We all are scrutinized by society in a daily basis.  Who can handle that? I really liked the way the director of the movie approached mental illness, showing how family support is very important and anybody can be happy (yes, it is a love story with a happy ending) even with lots of “ups” and “downs”. Well, the environment can play a significant role in metal illness such as schizophrenia, bipolar disorders and other mood disorders. In the movie, the character played by Bradley Cooper (also nominated for an Oscar) “Pat” would always have a nervous breakdown in stressful situations or when hearing a song that reminded him of bad experiences in his life. These are all “environmental triggers”, and medication can indeed help to keep these symptoms dormant. A recent essay by Elyn R. Saks in the NYTimes (see the article “Successful and Schizophrenic”) shows that anybody with mental disorders could be happy, married and successful. Elyn writes that when she was diagnosed with schizophrenia her prognosis was “grave” and she would never live independently, hold a job, find a loving partner, or get married. Well, guess what?! She is married now, holds a Ph.D. and is a successful tenured Law Professor at the University of Southern California. She has also written books about her illness. Of course in her essay she mentions that it was never easy, with lots of treatment and medication during the course of her life. Scientifically, two fields of study – epigenetics and how the environment affects genetic profiles – have been trying to understand and study people with mental illness; cases such as Elyn that somehow control her illness and also people that have very grave symptoms without a “normal” life. Epigenetics is a field that deals with how changes in our environment could modify our molecular profiles based on our lifestyle, what we eat, where we live, if we smoke or not, etc. Studies have been showing that genetic or epigenetic differences cause discordance between monozygotic twins as a clue to a molecular basis for mental disorders (for more details check the article by Kato et al Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders”). This study points that genetics is not enough to cause and/or maintain a “mental illness state”. Interestingly, the environment can modify our genetic profile in different ways, which is mainly through epigenetics – gene expression control and phenotypic changes in our brain cells. For bipolar disorders, for example, epigenetic mechanisms might be relevant to the pathophysiology based on several lines of evidence such as the relatively high degree of discordance in monozygotic twins, characteristic age at onset, parent-of-origin effects, and fluctuation of the disease course (see the article “Epigenetics and bipolar disorder: New opportunities and challenges”). Even though there are lots of complexity involved in understanding mental illness, since all of them are classified as complex diseases and have multiple factors involved, research from the last decade pointed towards epigenetic mechanisms and the environment as factors to explain the differences in the symptoms that people have during their lifetime. Coming back to the movie ‘Silver Linings Playbook’, it is clear that mental illness is a serious condition and can have extreme impacts in a person’s life, but it is not a death sentence or a way for society to exclude these individuals completely. The take home message of the movie is that everybody during their lives will have to deal with bad and good situations and the big difference is the attitude that these individuals will have towards these events. Thus, as “Pat” says in the movie, “this is what I believe to be true; you have to do everything you can, you have to work your hardest and if you stay positive, you have a shot at a silver lining…”I see silver linings and happiness as environmental triggers that could change anybody’s life in a good way. The truth is that we all want to have the big shot at a silver lining! (Image Source: Wired Magazine)

Science and Technology as Human Endeavors

Sunday, December 30th, 2012

Science is a system of knowledge based on repeatable observation and experimentation to test different hypothesis. Technology is the application of the knowledge acquired by science to practical aims of human endeavors. Both science and technology are often interconnected. Scientific accomplishments help facilitate our daily lives, since we have evolved as rational humans. For example, the military, all businesses in general, and even the common citizen have always been interested in the advantages that scientific and technological accomplishments can bring to our homes and even to protect our countries (in the case of military research). It is common knowledge that most scientific work is funded by different federal agencies such as The National Institutes of Health (NIH), The National Science Foundation (NSF), The Department of Energy (DOE) and several others in the United States (taking the United States as an example). Liberation of human potential is something we should seek and it implies certain confidence about our nature and the value of just what the human potential is. Plato, the Greek philosopher, mathematician and student of Socrates, believed that we are human to the extent that we are rational, can think, analyze and take conclusions based on the observations of the world around us. Liberal education (geared toward leadership) and vocational training (geared towards career development) have guided curricula away from the chancy investment in someone’s possible leadership potential and toward the less speculative trainability of a person to fill a slot in the scientific culture to become a scientist. I believe that in a “healthy” society, leadership involves confrontation with the perpetual mystery of the future in concert with single-minded exploration of alternatives for adaptive change. But tragically, we are usually asked to choose and specialize prematurely in our careers; if relevance of education is equated with the ability to satisfy basic human needs; in other words, if we wish a goal-directed focus and direct engagement of practical problems, a world–vocational training is the obvious choice. If we wish to engage broad social, intellectual, or ethical problems and if we want to help provide our culture in society with the enlarged spectrum of alternatives provided by open discovery in science and technology, then liberal education is indeed the obvious choice. Alienation from either science or technology is very unhealthy for a society. The United States, for example, have been though “the atomic age” with the development of the atomic bomb, the “telecom” age with fundamental advancements in telecommunications and technology, the “space age” with the man landing in the moon in the 1960’s and nowadays we are in the “medicine and health care age” with the advances in technologies such as genomics and personalized medicine. The world is changing with globalization and faster information flow, but science and technology are still behind in transforming discoveries in products or solutions to daily problems for common citizens (specially in medicine with the development of new drugs for diseases), mainly because of the increasing lack of funding by the federal agencies lately and less career driven education for students that have great potential to become extraordinary scientists. We desperately need changes in the educational system in the United States for kids with intellectual potential and interest in becoming scientists to develop new technologies and discover cures for diseases, because in the end, science and technology are the moving gear of our society.