The Citizen Scientists – Friends or Foe?

Gregor Johann Mendel, the founder of genetics

Gregor Johann Mendel, the founder of genetics (Photo credit: Wikipedia)

I just saw a post on facebook  from my friends over at Biocurious who wrote

“Over on Twitter we just had someone claim that they knew of the Citizen Science movement and that it is “naive & demeaning to prof. #science & #medicine”. Thankfully, Patrik D, one of our resident professional scientists set the record straight right quick. Got us to thinking though. What are some of your best arguments for the importance, and legitimacy, of Citizen Science?”

I thought I would write a quick post on a few reasons why I believe Citizen Science is an important and legitmate movement in the advancement of science.

  1. Citizen science is enabling the Democratization of Science – anyone can participate in Science to me this means that there are many fresh eyes and new perspectives being added to scientific problems.  There have been many examples where a non “scientist” has solved a scientific problem.   One such example is the Godfather of Genetics, Gregor Mendel – a monk with no formal scientific training and yet his observations lead to the basic understanding of genetic inheritance.
  2. The cross-pollination of science with new knowledge from other individuals from other industries can fuel innovation and create tools which advance scientific discovery. The fields of engineering and computing have both played significant roles in advancing biology and have fueled the creation of an entire industry now known as biotechnology.
  3. When it comes to human disease research, funding is often biased to the most common diseases which afflict the most people.  There are many many rarer diseases that don’t necessarily receive the funding or attention of the scientific community – these are all an opportunity to be seized by citizen scientists – particularly when a disease  afflicts  them or a member of their family
  4.  Whether we like to admit it or not, sometimes science today has an agenda.  Whether a project is funded by a pharmaceutical company or another big industry company (Gas, Plastics, or Cosmetics for example) may influence what actually gets published or publicized depending on how detrimental the findings are to the funders business.  Citizen science is an opportunity  to  see some new unbiased  discovery with no agenda
  5. How can generating widespread public interest in science be a bad thing?  We need to lower the barriers to science and make it easier and more accessible to everyone.  Science is often perceived as difficult, elitist and male dominated – many younger women in their late high school years are turned off science because of these perceptions – this citizen science movement can potentially dispel these negative connotations and inspire many more brilliant young people and women in particular to consider careers in science.

What Can Genomics Do For Your Health and Wellness Today?

Disclaimer: This article is written for non scientist consumers who are interested in learning about how genomics can impact them today.

What’s in a Genome?

The sum total of the entire DNA in an organism is called a genome.  Genomes are composed of a series of 4 chemicals known as bases, A, C, T and G which are considered to be the building blocks or the code of life – – We can make some headway into understanding  our genomes by determining the exact order of the bases in a strand of DNA – Put simply, genomics is the decoding of all your DNA and this is done by a technique called DNA Sequencing.

Ok, so what?  If we can decode and understand our genomes, what does this mean for us – how will this impact our lives today or in the future?  In a series of posts, I wanted to share with you some ways in which genomics can impact us, on both an individual level and on a global population level.  Granted, there is a long way to go in genomic research and for sure, we don’t know everything yet but with what we do know today there some real examples of the impact genomics is having.

One of the most important aspects of knowing our genomes is the potential impact it can have on our health and wellbeing by arming us with information to make medical decisions and lifestyle choices.

Predicting Susceptibility to Cancer

Lets take cancer as an example. Cancer will affect 1 in 2 men and 1 in 3 women in our lifetime.  How can the application of genomics help?   Can we predict who is likely to be susceptible to Cancer?  In some cases yes, BRCA1 and BRCA2 are two genes, which substantially increase a woman’s risk of developing breast and/or ovarian cancer if she inherits a harmful mutation in those genes.  This type of breast/ovarian cancer often occurs at a young age, usually before menopause and the patient often has a family history. Luckily advances in genomics have enabled us to develop a predictive test for mutations in these genes.    The test was developed by a company called Myriad Genetics

Breast Cancer Screening

Currently this test is not used for routine screening of the population but only for those women with a strong family history of the disease.   Many of you may be thinking – why would I want to know this information?  Won’t this destroy my quality of life as I will be living in fear?  The reality is, that the best chances of surviving many cancers, is when they are detected early.    Knowing that you carry the harmful versions of these genes, can enable you and your clinician to make better medical decisions – like starting regular mammograms at 25 (10 years earlier than usual) and having cancer screening tests more frequently and taking preventative therapies. In some cases, tests like these can really save the lives of the women afflicted with these mutations.


Which Drugs Should I Take?

Another example where genomics has made a significant contribution in healthcare is in being able to select the right drugs or therapies for an individual.  Whenever I am prescribed a drug, I want to know, how effective will the drug be?  What is the correct dose for me? Will I suffer from side effects?  Cancer drugs for example are known to have some of the worst side effects and they only actually work in a small proportion of patients.  One report states that cancer drugs only actually work in about 25% of the patients that take them and yet the majority suffer from severe side effects.  Before you took a cancer drug and had to suffer the side effects, wouldn’t you want to know if it would even work on you?  The field of study, which defines how your genetic information can predict your response to a drug, is known as Pharmacogenomics.

warfarin flower

warfarin flower (Photo credit: hessiebell)


I recently learned about my genome from a company called 23andme ( .  One of the many fascinating things I found out was that I was sensitive to a drug called Warfarin.

Warfarin is a blood thinner often prescribed to people who are at high risk of blood clots.  It’s really important to get the dose of this drug right for the patient, too much and the patient can bleed to death, too little and the patient will be at risk of clotting, heart attack or stroke.  I share this information with my physician because people like me, with an increased sensitivity must be prescribed a lower dose to prevent bleeding.  It’s amazing that I can have knowledge of this information and these risks before ever needing to take the drug.  In this case, I can actually avoid trial and error medicine all together.


Dodging The Disease Bullet

How about the ability to avoid diseases all together?  Many complex diseases like certain types of cancer, cardiovascular disease, obesity and diabetes may have genetic components to them, but your lifestyle and environment can have very strong influences on the outcome and maybe even delaying the onset or avoiding the disease all together.

Melanoma is a prime example of this.  Melanoma is a skin tumor that is responsible for the most skin cancer deaths.   Research has shown that exposure to UV light from the sun or tanning lamps hugely increases the risk of developing melanoma.  If you were aware that you carry an increased genetic risk of developing this disease, wouldn’t you want to take measures to control or limit the environmental or lifestyle factors that can increase your risk?  For Melanoma, there are some simple measures to take to avoid this like using high SPF creams every day on all the exposed areas of your body or avoiding being outside in strong sunlight, or wearing protective clothing.

Eliminating Disease From a Population

Another example of using genomic information to avoid disease, is in carrier screening for recessive disorders.  There are a class of diseases that an individual can be a carrier of genetically, although not actually suffer from the disease themselves.  Examples of these diseases are Cystic Fibrosis, Duchenne Muscular Dystrophy and Tay Sachs disease.  If two people who are both carriers of the same mutation have children, there is a very high chance that one or more of their children could be afflicted.  This is particularly prevalent, although not exclusive to, communities or cultures where Consanguineous or blood relation marriages occur (often first or second cousins).

A simple genetic test can tell you if you and/or your partner were carriers of mutations for these genes.  Knowing this information in advance would enable you to make informed reproductive decisions.  In the case of a couple where both are carriers of mutations for a specific disease; options such as assisted reproduction or IVF exist.  During the IVF process, the embryos can be screened for physical or genetic abnormalities before being implanted.  This is known as PGS – Pre Implantation Genetic Screening.  The Ashkenazi Jewish community, are known to have been afflicted with many of these recessive diseases in their populations.  However, through diligent screening programs, genetic counseling and assisted reproduction programs they have managed to reduce the incidence of a neurodegenerative disease known as Tay Sachs by 90%

Knowledge is Power

These are just a few examples of what genomics can do for you today. We are of course, a long way from understanding everything about the genome and the factors that influence it and we are learning more and more every day.  However some things that we do know today, really can impact your health and wellness.  When it comes to your genome, knowledge really is power.

In future posts I will share how Genomics is impacting us today in areas other than health and give you a view into the next frontiers for genomics …. stay tuned!

The Personal Lessons 2011 Taught Me

Dear 2011,

You have taught me so much this year – thank you, but I really dont wish to relive you.

Dear 2012 please be kinder to me than 2011 was….

A few of my 2011 lessons.
1) Every single moment with the people you love is precious – life is short, cherish those moments.
2) True friendships are much more important than networks.
3) Health is the window to happiness and sadness
4) Forgiveness relieves you from carrying a very heavy load around
5) When I party all night – I shouldn’t expect to be functional the next day
6) New friends are great but old friends are better – they stood the test of time and fill in the gaps in your memories
7) It’s during the bad times that people show their true colors. I am blessed to have amazing people in my life.
8) I have ADD
9) I really do love what I do at work despite 330K miles of travel in 12 months
10) My family is amazing.

Guest Blog: What is Biotechnology by Robert Klein

DNA Double Helix

Image via Wikipedia

I was recently asked to present at Singularity University at a workshop titled “The Business of Biotech”. This seemed like a great opportunity both to step back a bit and think about biotechnology in a broader sense and to see what the Singularity University is all about (my good friend Ruby has been raving about it since taking the Executive Program).
By way of background, I’ve been in the biotech industry for about twenty years (time flies!) since getting my PhD at MIT studying molecular genetics.
I’ve spent most of my professional career working on genomics with some serious detours into drug development. While I’ve done some of this at large biotechs including Genentech, I prefer the small, intimate, exciting, and life or death environment of a startup. Startups also allow me to wear different hats at different times. Sometimes I’m in charge of science. Sometimes I’m the CEO. All depends on what needs to get done and how the team comes together.
Kristina Hathaway the organizer,  asked me to give a talk titled ‘What is Biotechnology?’  It was actually pretty fun to put together since it is easy to forget that biotech encompasses so much more than just genomics and drug development – my normal myopic view of the field.
One big revelation for me was that the first true ‘killer app’ for biotech was invented 5,000 years ago. Its called beer.
Here are the slides I presented at the session – I hope you enjoy them! Slides: What is biotechnology?
If you have any questions or would like to get in touch you can email me at or follow me on twitter @rdklein

Thinking Globally About The Business of Biotech

A world map showing developed countries, devel...

Image via Wikipedia

What do China, Brazil, India and Africa have in common?  They are all countries where the adoption of Biotechnology has the propensity to  solve many of the challenges that afflict them including disease, poverty, food and fuel.  In fact more than this, China, India and Brazil have already been successful in creating whole industries around Biotechnology and are emerging as leaders in the areas of genomics, vaccine production and agricultural biology.

I have the best job in the world, I spend about 70% of my time traveling around the world talking and learning about genomics different countries.  In addition, I am an alumnus of Singularity University.  This week Kristina Hathaway (@Sytype)  my good friend and veteran in the biotechnology industry,  was hosting a workshop called The Business of Biotech at Singularity University.  She invited me to give a presentation there on “Thinking Globally”.

The goal of my talk was encourage the attendees to think about

  • How can Biotechnology can solve global challenges?
  • What are the challenges and opportunities that exist outside the developed world ?
  • When building a business around Biotech what are the factors to consider for International Markets?
  • How have various countries been successful in building industries around Biotechnology?

Here is a copy of the short slide deck I presented.  The Business of Biotech – Thinking Globally

In the next post – I will share with you a slide deck by Dr Robert Klein who was also presenting at this workshop on The History of Biotechnology.

Biotechnology 101 Slides for Singularity University

Biotechnology 101 for Singularity University

As many of you are aware, I recently gave a talk at the very prestigious Singularity University.  This is a program co-funded by NASA and Google to study how exponential technologies can solve the global challenges that afflict 1 billion people or more.

Check out

Singularity University Banner - Biotecnology a...

Image by david.orban via Flickr


Biotechnology 101 for Singularity University SLIDES

The 2011 Graduate Studies Program or GSP11 as it is known among the Singularitans, is a 12 week program where 80 of the brightest and most accomplished individuals from over 35 countries have assembled at NASA AMES to learn the exponential technologies in the following areas

Technology Tracks AI & Robotics
Networks & Computing Systems
Biotechnology & Bioinformatics
Medicine & Neuroscience
Resource Tracks Futures Studies & Forecasting
Policy, Law & Ethics
Finance & Entrepreneurship
Application Tracks Energy & Ecological Systems
Space & Physical Sciences

I was lucky enough to be invited to give them the basics of Biotechnology and Genomics and for those of you that are interested, my slides are posted above.

Genomics around the world / Biotech geeks on a plane

The Original – Geeks on a Plane

Geeks on a plane is an initiative developed by Dave McClure ( in the hi-tech industry.  The idea behind it is that a group of VC’s, Entrepreneurs and CEO’s of tech companies and bloggers travel together annually to a number of countries within a defined region with the following goals

  • To seek new investment opportunities
  • To understand new potential markets internationally and their local market dynamics
  • To meet leading local entrepreneurs, founders and learn about new companies within the region.
  • To foster international networking efforts and share their collective experiences

Previous trips have included Asia, Europe and Latin America. Most of these trips are self funded by the individuals and cost approx $5000 per trip.  In addition, individuals that attend this trip are selected by a panel for their eligibility. The trips are reported on in real time via social media and a modest PR campaign does the rest of the awareness building.

To learn more about geeks on a plane –

Genomics around the World

The biotech industry can learn a thing or two from a program like this.  As someone whose job involves travelling around the world learning about biotech markets in every country and talking to regional key opinion leaders in genomics, cancer research and personalized medicine I can see a significant opportunity for us in the biotech world to emulate this.

Some of the drivers for a program like this include

  • Scientific research is becoming more collaborative.
  • As we approach an era of personalized medicine, genomic researchers are recognizing the importance of having diverse ethnicities and populations represented in their studies, particularly when it comes to understanding disease and pharmacogenomics.
  • Funding from traditional sources is getting more and more limited and we have to think differently if we are to accomplish major scientific breakthroughs with fewer resources
  • Countries outside Europe and the US are starting to develop specialty expertise in niche areas for example
    • India and South America are starting to become leaders in Ag-bio, bovine breeding and growing biotech crops.
    • China is about to become one of the countries with the largest sequencing output. BGI (Beijing genomics institute) is in possession of 137 Next generation sequencing systems and is involved in research projects  like  1000 plants and animals genome project ( and the 10,000 Microbial genomes project ( )
    • Countries with large populations like China and India have the ability to collect large numbers of samples from patients.  In western countries, large sample cohorts like these can take many years to collect particularly in the case of rare diseases.
    • Countries within the Middle East and parts of Asia have super high rates of consanguinity.  Egypt, Saudi Arabia and Pakistan can have up to 60% consanguineous marriages. This makes them hot-spots for congenital diseases and developmental delay caused by cytogenetic aberrations.  In addition the populations of these countries can harbor high rates of very rare autosomal recessive disorders often not studied or even seen in the western world.
    • Countries in parts of Africa, are yet participate or even be represented in the genomics revolution.  Whether they suffer from diseases which afflict only their ethnic groups, or from a lack of food to feed their populations, biotechnology has the propensity to solve some of these problems, if only they had funds and resources to access it.

These are just a few examples but the point is that each region has the ability to bring not only opportunities unique in their region but also expertise, skill set and resources in niche areas.

Biotech geeks on a plane

My proposal is to get together with a group of like minded individuals who believe that we can change the world through capitalizing on the fact that the world is getting smaller and use this to facilitate and drive global collaboration which can accelerate scientific breakthroughs.

The vision would be to assemble a group composed of leading research scientists from leading academic institutes, clinicians, individuals from the biotech industry, technology developers and bioinformaticians,  who are united in an effort to understand the challenges and opportunities in various regions of the world.

If you would like to join the growing group of people interested in this, please join us on LinkedIn – Biotech Geeks on a Plane / Genomics Around the World


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