Archive for the ‘Society’ Category

Humankind’s Biggest Biomedical Experiment

Tuesday, December 15th, 2020
Image Source: BBC News

This year is finally coming to an end and it will make history. In one century, we have never seen something like this: a pandemia that affected every single person in the planet. Scary right? Imagine in a decade from now or even when we are old (hopefully surviving to all this craziness) telling how the world stopped because of a nanoparticle, a virus, in the year 2020. Well, this is my last blog post for the year of 2020, a year that changed the world in all countries without exception. I’ve been writing about the pandemia (or pandemic if you are british) since it started. What a year! Lockdowns, masks, social isolation, deaths, healthcare systems burning out. If we could go back in the early 2000s and would be able to tell this history to someone it would look like a Hollywood movie, however in this case no hero came to save us all. Except the scientists and healthcare workers who were the real heroes this year (even TIME magazine devoted a special issue to these heroes in their last issue). A year to be forgotten; to be remembered as an example on how unprepared all countries (no exception) are for something like this. In a recent podcast I’ve did (as soon as it is released, I will post the link) I discussed how this year was interesting in the sense that all of us had to stop our “auto-pilot” and accelerated lives to rethink everything: from family to our professional lives to who we really are as human beings. It was a “pit stop” or sabbatical for several people to re-evaluate their lives (especially for me). On the other hand, for the kids and the new generations being born this year and the teenagers, this year was confusing and will leave marks forever. The world was already virtual and mobile-driven before and now it got worse. Anyway, let’s go to the point of the post: the biggest scientific and biomedical experiment for humankind; to vaccinate 7 Billion+ people in the globe.

Vaccination Logistics

We now have around 7 options of vaccines that started to roll out to the public with the hope that it will stop the coronavirus. Now I can give some perspectives and leave some questions for the reader. Vaccines in general take 5 to 10 years to be evaluated for all their effects in long clinical trials with hundreds to thousands of people. The thing is that even after a successful vaccination we need time to see the mid to long-term side-effects. The clinical trials for all of the vaccines available now took less than a year and were done with a number of people below the regular number, even with the efficacy ranging from ~60-95%. In addition, now we have a new type of vaccine, using genetic material to make living human cells in our body produce a protein from the virus creating an immunological “memory” for the virus in a second encounter. I believe that in a year, scientists have learnt a lot and that was a kind of preparation for other pandemia(s) that could happen in the future. It is unquestionable that this is the greatest achievement in science and biomedicine this year. However, some questions still remain unanswered.

Unanswered Questions

My questions and concerns are: 1) How the logistics of the vaccination will work from country to country?; 2) which vaccine each country will choose since we know there is a lot of money involved in licensing, production and in the distribution; 3) Some protocols already have information that elderly and healthcare workers will take it first – what about the rest of us?; 4) each country will use different measures and we don’t really know if this will negatively affect developing and low-income countries; 5) with these new technologies we can expect lots of side-effects; remember we are all genetically different and scientific studies have already shown that each person responds differentially to the viral infection – what about the response to the vaccine?; 6) people that already got COVID19 and is cured can take the vaccine? – we really do not know how their bodies will respond yet; 7) International flights will go back to normal – I just read that besides the passport people will need a vaccine “passport” to start flying around the globe. How will be the logistics for this since each country will use a different vaccine and/or protocol for vaccination?; and the last one 8) How governments will “sync” the vaccination and evaluate the concerns I just pointed out above? We will be “guinea pigs” or “lab rats” in the biggest scientific experiment humankind ever had. The year of 2020 was a year of lots of learnings in the personal, professional, societal and global levels. Let’s hope the vaccines (all of the approved ones) work with few side-effects and the virus fades away so we can go back to our lives, but now with a different perspective.

Bye Bye 2020!

One thing is for sure, 2020 is gone, but 2021 will still be a year of lots of learning. And most importantly, masks and procedures to avoid viruses and bacteria that can cause another pandemia came to stay. Thus, be used to that! The world changed forever. I wish the worst is ending and good times are ahead of us. Let’s cross our fingers and continue taking care of ourselves and our loved ones. Finally I can scream: Bye Bye 2020! I wish a better 2021 to all the readers.

Updates & Lessons for a Post-pandemic World

Monday, November 16th, 2020

As I write this blog post there has been a lot of updates related to the coronavirus pandemic in the world. We are approaching the end of 2020 and there is currently a second and third waves of coronavirus infections in Europe and the United States, respectively. In the United States the number of daily confirmed cases are reaching the 200,000 mark and in Europe several countries are locking down and imposing restrictions again. The testing of the virus is still messy with misinformation and lots of false positives and false negatives. Doctors and healthcare practitioners are struggling to understand (or don’t have time) which is the best applicable test for each phase of the viral infection. For example, if the person is in the peak of the viral infection and did not develop antibodies against the virus yet, a serological rapid test will not detect the virus (false negative). If the PCR (“gold standard” test) is done after the infection phase and the body has cleared the virus, we will also see a false negative. Very confusing indeed. Regarding treatments for the infected people, I believe the healthcare systems are evolving but there is no “global protocol” to be followed by healthcare practitioners in all the countries. Thus, what we see is a trial and error, use of drugs that are not approved for viral infections, use of antibiotics in the wrong phase of the infection. Bottom line: It is still a big mess. Regarding the vaccines, in the last week we had several good news of vaccines from big pharma companies such as Pfizer, CoronaVac and the Russian Sputnik V having good efficacy (above 90%), Today I just read that Moderna Therapeutics released a statement in the media reaching almost 95% efficacy (check the NYTimes Vaccine Tracker and some other news here). I hope until the first quarter of 2021 we will have more good news for the vaccine research. However, the problems after the approvals will be the logistics to deliver it to people in poor countries (we already know that vaccines based in RNA are unstable and need very low temperatures to transport). Prices, country policies to distribute, who will get it first are also open to discussion. Well, there are several lessons we have been learning “on the go” with this pandemic. When I think in a post-pandemic world, I see a lot of people affected mentally mainly because of the restrictions, a generation of kids that will be living with fear, confused and probably still using masks (this is not going away soon). I think governments in the world need to join forces to overcome another pandemic if it comes; the response to this one was a disaster in my perspective (and from a lot of other people). With all the technological innovations and scientific accomplishments we have in the year 2020, we will probably see  around 2 million people dying (or even more) of the coronavirus globally with at least 100 million+ infected (unfortunately I have been reading a lot of reports of recovered people with long-term problems in the brain, heart, chronic fatigue, weird syndromes that will take a while to understand). Societies and political leaders will need to join forces in a world that is so divided right now. I am not talking about rich and poor, I am talking about us, humans, the human race as a whole. The world will never be the same after 2020. A “brave” new world will surface with more compassion, empathy and hope – I am trying to be an optimist. This pandemic affected everyone (of course differently) from Hollywood stars to people living in slums, from billionaires to middle class people. The world of sports such as NBA, MLB, soccer, car racing (I am a fan of Formula 1 and Indy Car Racing) were all affected in some way. Live TV shows were affected. All businesses were somehow negatively affected (exceptions are technologies such as videocalls, and retail with delivery such as the tech company Amazon, etc). The world economy is broken, a lot of people unemployed, kids having virtual classes and other changes that will need some years to go back to “normal”. And what this “normal” will be? I do not have the answer yet, but I hope next year will be better than 2020.

Coronavirus Pandemia New “Normal”: Now and Then

Monday, July 20th, 2020

Image Source: World Economic Forum, 2020

On my last blog post I wrote about the misinformation that we are having to deal with in a daily basis with the coronavirus pandemia (see my blog post here). I also discussed how this misinformation is negatively affecting our society and the individuals, especially people that are not very careful in selecting trustful media and/or social media sources to gather information. This blog post will be more “positive” since I will discuss something that I see people asking everywhere: what will be the new “normal” after the pandemia? I mean, when things get in a stage that we can be more comfortable in going out and there is a vaccine that is efficient enough in the future (hopefully!). Well, there are five specific things happening right now that we could use as examples on how things will be after the pandemia. Actually, these factors have been accelerated by the pandemia since all of them were already happening “organically” in a slower fashion. I will try to discuss and show examples on how these areas have been affected and will be completely changed forever. First, let’s talk about remote work or working from home; something that most people in countries with “lockdown” have been currently doing. I am one of these people. Actually, I have been working remotely for more than a decade now. Remote work came to stay. Some companies before the pandemia were already using the option of “working from home” for one day a week or more, however from now on I believe that this will became more of a rule than an exception. I have examples of working remotely with Teams of people in South America, Europe, Asia and other places. The technology and faster broadband internet are already here. This came to stay, however how people that needs to go to an office or a laboratory or even a production line of a factory to work will do in the near future is still a question mark. Second, in the same way remote work came to stay, telehealth and digital healthcare solutions are expanding. I see people having videocalls with their doctors, psychiatrists, family doctors, etc. Solutions and technologies that are facilitating this connection between the patients and their healthcare professional also came to stay. Of course, that a lot of things need to evolve, and the patient privacy is still an issue, but this will be the new “normal” in medicine. Third, the impact of this pandemia on education (high school and college/university levels): EdTech (or virtual education) and education online is becoming more widespread now. Before, it was just a small percentage of the schools and colleges/universities that offered online courses. Now, all students from the globe are facing a different way of getting classes via internet. This trend was already in place by companies such as edX, Coursera, Udemy, the Khan Academy, etc. During and after this pandemia, online education has become more widespread as the technology evolves and the students get more used to it. I do courses online since 2015 and I really like it; I do not see any problem here. I think that the old-fashioned “medieval” education “on-site” is gone forever. Fourth, is the e-commerce sector and how big players such as Amazon are monopolizing it and will dominate (check this article entitled: “How the coronavirus and retail closures are accelerating the rise of Amazon”). Well, commerce in general has been affected by the pandemia and now we see all the companies (small, midsize and big ones) improving their websites, apps and other ways for online sales. Since nobody is able to go to the stores, the products have to come to us. Well, this trend started more than 20 years ago and now I believe it will become something “normal”. Unfortunately, owners of stores and commerce that are or were not prepared to move their sales online will be disappearing. That is a fact. Fifth and last, I think the bigger impact now and after the pandemia will be on the way we relate to each other. The consequences of social distancing will not disappear soon. One interesting personal example is that I went to a store the other day to buy groceries (of course with a mask and hand sanitizer in my pocket) and what I felt and saw was every single person getting far away from me and the other people around. When asking questions to people that worked in that specific place, I saw fear in their eyes and trembling hands when getting “closer” to others. Social distancing came to stay for a while, and it will affect even more the way we lived before – connected all the time with our mobile devices in our hands and not socializing at all. In my opinion, this will really affect social interactions between people for some time, I would say years if not forever. These are some of my perspectives on the new “normal” that we are facing and will face from now on. The world will never be the same, that is for sure. A “brave” new world and ways to deal with people came to stay. Let’s just hope that people will become more distant socially but closer in a general perspective, aware of the human species fragility, the nature around us and our planet. We need to take really good care of our “home”; and by “home” I am referring to the globe. The virus will be controlled at some point. However, how we as humans will live after that will change completely.

Coronavirus Pandemia: Facts and “Fiction”

Thursday, July 2nd, 2020

In this blog post I will discuss about the current situation of the coronavirus pandemia and how misinformation and the so-called “fake news” is really a problem for our societies and the world in general. For those who follow my posts and read them, last month I wrote about a cousin I’ve lost in the North of Brazil for this disease (check the blog post here). My family members and his family like several other families in the world are still overcoming the sadness and trying to understand what is going on. The questions I currently see are: Why? How? When we will get a ‘cure”, an efficient treatment and/or a vaccine? The fact is that there is no “magic bullet” yet, especially when the pandemia is in the current stage. Today, the latest numbers are that at least 10.7 Million people were infected worldwide and at least 515,000 people died of complications of the coronavirus infection (for more information check the trustful website from the John’s Hopkin’s University here). Well, first of all, as a scientist I get lots of questions about the virus, how it infects people and mainly why it kills people in a current rate of 5-10% depending on the place, country and/or region. First of all, what kills is not the virus itself: the viral infection in the respiratory tract, especially the lungs (other organs are infected too, it has been already reported) causes a hyper-reaction from the immune system of the person that destroys the lung cells and open the “doors” to bacterial infections such as the one that causes pneumonia. Thus, what kills is the “auto-immune” response to the virus and not the viral agent COVID19. In this context, the age, sex, health, presence of a complex disease (diabetes, cancer, etc) will be important factors that will affect morbidity. In addition, since everyone is genetically different, even in immune response to viruses, this is probably why we see young people dying, not just elderlies. One thing is for sure: my generation and probably the one before me (my parents) and the next ones never lived through a situation like this. That is why now more than ever, the use of correct and trustful information are very important. Let’s get to 3 main important points that I would like to explore as facts and fiction: 1) Current tests that are being advertised everywhere. There are several types of tests that work very differently. The most common and fast is to check for antibodies against the virus or against proteins of the virus in the plasma of people, that is a fact. However, testing negative doesn’t mean that you are free to go outside without a mask and live like nothing is happening. I’ve had a very interesting personal experience last week since I went to the pharmacy where these “fast” tests are being offered and people have to pay (not cheap by the way…). When I was in the line waiting to get my medication, a lady got a negative result for the test and jumped saying to the pharmacist: “so now I am free and can go outside without a mask!”. The pharmacist very gently told her: “Well, please understand that having a negative result for this test doesn’t mean that you could get the virus or that you’ve already got it and have no antibodies against it”. The lady turned to him very angry and said; “Then why I am doing this test and paying for it!”. This is the main problem right now: people do not understand that the tests are not a way of “getting out and living free”. The other tests that are more specific for the virus such as the “famous” PCR are more expensive and laborious. Not a lot of people can afford to do it. The summary in this first example is that I do not trust any of these tests since we are still understanding how the virus works. So why bother?; 2) Treatments for the virus. Fictions: there is no “magic bullet” yet like I’ve wrote above and the treatments are much more complex than “advertised”. It is and will be a combination of drugs to block the hyper-immune reaction, block the virus and also antibiotics for the worst phase when people get pneumonia and/or other bacterial infections. So, please people do not believe any of these “miracle drugs” being advertised everywhere, especially in social media and last 3) the vaccine: well there are at least 140 vaccines in several stages of tests (please check this article from “The Guardian” for more information) and just 2 of them are in the latest phases of the clinical trials. There is another problem here with facts x fiction: a vaccine against a virus is not easy to develop. For example, we still do not have an efficient vaccine against HIV till this day (and HIV is an RNA virus such as the coronavirus; the only difference is the cells they infect and the way they spread). Vaccines could be of the attenuated viral particle, proteins of the virus, nucleic acids of the virus, etc. I believe that we need to be pragmatic: it will take time to get an efficient vaccine. Several groups are working toward this goal, that is a fact. However, let’s be “real”: it will take some time, maybe a year or so. The main fact right now that I think everyone in the world should believe is that the only way to fight this pandemia is avoid being infected by the virus. How? Social distancing and isolation, unfortunately. People working in healthcare and services that are essential need to use masks and be careful. There is nothing else we can do right now. Last, but not least, I wrote before that “Science is Broken: How, Why and When?” (see my blog post from some time ago) and other critics to how the scientific system is in its medieval times. My hope is that people in general, now being directly affected, see how important science is and give scientists such as myself and several others some respect. I also hope that the system changes. In this type of situation I see people, even my family members telling me: why no scientist was studying this type of virus? Why is it so difficult to overcome this? I tell them in an ironic way: ask the governments and the academic system that does not work for the people. Finally, based on all the facts I have been reading and know until now my last piece of advice to everyone reading this post is to stay home and take the measures that prevent the infection (use masks, disinfect everything, etc), independent on what governments and other people tell you or you see in social media. The fact is there is a pandemia, we do not completely understand the coronavirus, there is no treatment and no vaccine 100% yet. Thus, take care of yourself and people you love. Let’s try to overcome this pandemia together (but socially isolated…) with facts and not anecdotal information that we get every day through the media. And most important: let’s stay mentally stable and sane. This is my message to all.

Healthcare in Emerging Economies – a Sad Story

Tuesday, April 2nd, 2019
Image Source: Harvard Business Review

Healthcare is a very complex subject anywhere in the world. Some countries have an established structure in which the government subsidizes healthcare for the population and others trust on the private sector, also known as health insurance companies. There are also examples of hybrid systems: the public and the private sectors working concurrently. Independent on the system, the poor piece of the population always suffers. The subject of this blog post is going to be healthcare in emerging economies since I am doing an online Course at Harvard focused in entrepreneurship in emerging markets. Healthcare and Education are given as examples in this course of areas that technology barely touched in this course. The explanation for that, especially in emerging economies, is mainly due to restrictions of the government and lots of corruption in the system. Credibility, trust and transparency are not the best adjectives in emerging economies. Corruption is everywhere and the poor are the ones who will suffer. I will exemplify one of these issues, focused in healthcare (and also education at some degree since the solution we have built was with students), since I participated as Head of one of the most interesting Projects that the Apple International Program developed in Brazil, my home country. Just as a spoiler alert, this is not a story with happy ending, but worth reading about. Let’s start explaining the basis of the problem we were trying to address in my home country: most of the healthcare system is subsidized by the government in a Program named SUS (“Sistema Unico de Saude” or “Unique Health System” in English). This Program is running for decades and has very successful histories such as giving AIDS medication for free to HIV positive patients (this Health Program got many awards worldwide and was used by other countries). Our main goal was to evaluate the SUS Program as a whole since the government had a database called DataSUS with all the information on public hospitals, facilities and healthcare professionals in the country. To do that, a group from the Apple International Program decided to build a citizen centric App named “Heath Map of Brazil” and aggregate all the DataSUS information with geolocation in the country: for example, if somebody had a health issue, let’s say a heart attack in the streets of Sao Paulo or Rio de Janeiro, a citizen close to the person would do a first response and try finding the closest public hospital using the geolocation feature of the App. Also, citizens from Brazil would be able to give feedback using the App. The main challenge here was to evaluate the efficiency and efficacy of the SUS healthcare system in Brazil. The App was built after we had long talks to the DataSUS people to be able to have a direct connection to their database. The beta of the system was released in the capital of Brazil, Brasilia, where I have lived for a while. The idea was simple: make a geolocation map, such as Google Maps, of all public institutions from DataSUS and the people working in all of them, from nurses to doctors. Very simple task. Since the beta test in the capital worked nicely so we have decided to aggregate data from the whole country and let the citizens interact with it for one year. After this time, we have collected all the inputs from people using it and something shocked us all: lots of citizens in the whole country were trying to find public hospitals that never existed in their town (which I call “ghost places”), trying to find doctors that never worked in a specific place, have already retired or even died amongst several other infrastructure problems. With all this info in hand we started crunching numbers to see how much money was being poored in all of these “ghosts” that the citizens found using the App solution. Our jaws dropped; the numbers were in the billions of the Brazilian currency, even billions of Dollars! All of this money was going somewhere, but not to the right place. So, we decided to present this to the Finance Department of the Country at that time. People listened to us, of course. We had the numbers, the places that never existed but not where the money was going. Interestingly, after this presentation, the government cut our direct connection to the database DataSUS with all the healthcare data and the App started “dying”. There is no need to explain why. Corruption, lack of transparency and lack of trust. This money meant that people were getting rich with these “schemes” all over the nation. This is a very successful idea to help a government that unfortunately is very corrupt (and I am not saying and disclosing any political parties or names from the government involved). In the end, who is suffering with a terrible healthcare infrastructure, unprepared healthcare professionals and long waits to be accepted to do an exam in the public system: the poor people in my home country. Sad but true story. My take on this story is what I’ve learned along the way of building a nice solution that could help lots of poor people. But that doesn’t matter, does it?

Disclaimer: The opinions and views in this article are my own. In this article I have no political or party association with any governmental entity in Brazil.

Humankind’s History, Science, Technology and Beyond

Friday, March 1st, 2019

Brain under layers of circuit boards

Today I will write a post about the intersection between technology, science and human nature based on the last three books I’ve read. Since I am a passionate person that reads a lot and try to be on the verge of what goes on in the fields of science and technology (amongst other things), I’ve recently read very enthusiastically the famous “trilogy” of books from the author Yuval Noah Harari (Twitter: @harari_yuval). He writes brilliantly about our species story, how we are evolving and the challenges posed by fields such as science and technology to keep humankind “on track”. The way he portrayed our history as a species together with the challenges we have already faced (and are facing now) and our cultural aspects are just amazing. On his first book “Sapiens”, as a historian, Yuval gives the reader several interesting perspectives on how we became a society with cultural values and how money “was born” as a way to exchange goods creating empires such as the Persians, Romans, England and now the United States. In his second book, “Homo Deus”, he was able to show how humans are using scientific breakthroughs and technology to improve several sectors important to us such as health, finances, logistics, etc. In a world were mobile phones are in everybody’s hands and big data is the new “oil”, we face a lot of challenges with our own privacy and how to keep it private. Science and Technology always bring the good and the bad in humanity. The balance between both will be our “salvation” I guess. Yuval used several examples on how computer science, data science and artificial intelligence (AI) are changing our present and he also shows several scenarios on how it will impact our future. He also discusses the breakthroughs in biotechnology. Interestingly, he makes a very nice comparison between algorithms and how living cells work. In the end, we have biochemical reactions and several organic compounds in our cells and bodies that “use” codes that he calls biological algorithms to bring life to earth. An algorithm is a process or set of rules to be followed in calculations or other problem-solving operations, especially by a computer. In this case, Yuval discusses how human bodies and cells remind us of computer algorithms. Since we are now building algorithms using AI technologies that are already taking jobs from people and could be as smart as humans in the near future this makes complete sense. Some of these technologies have been already used. For example, genetic engineering is using algorithms to edit cells and babies based on the CRISPR technology in life sciences causing a lot of discussion in the scientific community. In his last book of the “trilogy”, “21 lessons for the 21st century”, Yuval brings up interesting philosophical discussions using very concrete arguments. He discusses how political models such as democracy and socialism in countries have failed us and how we need to rethink ways of improving our political views as individuals. Also, he discusses religion and how people have been reacting to it since the beginning of humankind. His point is that we as humans need to believe in something bigger than us. However, what about if a “God” as we imagine does not exist and we are just made of algorithms in a very random way? Again in his third book he touches the future of humankind and how AI and data science are and will impact our lives in a daily basis. I myself believe that scientific and technological breakthroughs are very important, but we need to think very carefully about their social impacts and privacy issues. Are they increasing or decreasing the gap between the rich and the poor people in the world? That is a very good question that is still open for discussion. I really suggest everybody to read all his three books. They complete each other and opened my mind to humankind’s history, our present and several nuances on our future mainly focused in science, technology and beyond. I can disclose here that I am not getting a dime to promote Yuval’s books, just felt like every one of us need to read, even with some criticism, his amazing book “trilogy”. I really enjoyed reading them myself.

Image Source: Time Magazine

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 Connect.com. 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