The effort will make use of existing saliva samples taken from California patients, whose average age is 65. Their DNA will be analyzed for 700,000 genetic variations called single-nucleotide polymorphisms, or SNPs, using array analysis technology from Affymetrix. Through the National Institutes of Health (NIH), the resulting information will be available to other researchers, along with a trove of patient data including patients’ Kaiser Permanente electronic health records, information about the air and water quality in their neighborhoods, and surveys about their lifestyles.
The target age group shows that the focus is on “secondary aging”:
Given the high average age of the group, the platform will also be a boon to studying diseases of aging. “One might want to ask,” Schaefer says, “what are the genetic influences on changes in blood pressure as people age, and how are those changes in blood pressure related to diseases of aging, like stroke and Alzheimer’s and other cardiovascular diseases?”
UCSF will perform separate procedures on the samples to determine the length of telomeres–sections of DNA at the ends of chromosomes that protect against damage. The length of telomeres is associated with cell division and aging. One of the coinvestigators on the project is Elizabeth Blackburn, a biologist at UCSF who shared the 2009 Nobel Prize in Medicine for her work on telomeres.
Sage Bionetworks is a not-for-profit organization developing an open-access “pre-competitive” platform for networked and annotated models of human disease. It’s a huge and unparalleled bioinformatics enterprise: starting with an anonymous $5 million donation and soon making high throughput, large-scale human and mouse biological data (largely from Merck) available in the range that’s already in the public domain today. The co-founders are real big shots, Stephen Friend, a former successful Merck Executive and Eric Schadt, now a Chief Scientific Officer of Pacific Biosciences, who is “an industry leader in network biology with a number of high-profile publications over the past 5 years that have energized the systems biology community.”
For the last couple of months there was only minimal information available on the Sage website but now scientists interested can get the big picture in more details via a significant update.
The strong motivation behind is to build an open-access standard platform for human disease biology because
human disease biology has no common languages, no accessible communal repositories and no government, corporate or foundation investment in generating an inclusive resource….The experimental data underlying disease biology, like the genome itself, needs to be open access because the data is simply the beginning of the process….
Human disease biology is so complex, interconnected and expensive to research that the existing dominant business strategies of building and patenting unique models need to be replaced by a common standard. Like the internet, disease biology models will gain strength by their very nature as public platforms for interoperability and communication – this approach is at the very heart of that strength.
At the heart of the Sage model are the so called Global Coherent Datasets that will be for the first time available for scientists working all around the world. We’re talking about a real goldmine here for researchers:And if that doesn’t sound good enough for a start then the following Sage Datasets will be available in 1 to 2 years: Read the rest of this entry »
Surprise email from Conor McKechnie, GE Healthcare proving the aesthetics of science and the value of blogging:
A while (!) back you posted an inspiring piece linking to Harvard’s BioVisions inner life of the cell – it was 2006…It got me thinking that we could do something similarly inspiring with actual cellular images entered into our annual cellular analysis image competition. It took 2 years to make it happen, but finally: We have just posted a social media release highlighting the winners’ images being shown on the jumbotron in Times Square, with a short narrated film about the images and what they could mean for medical research, posted on YouTube:
Video interviews with the winners in Times Square on YouTube:
Short listed entries on a public site to inspire and encourage people to share in the beauty of science.
I hope you enjoy the links – and thanks for being the initial spark of inspiration.
Take a look at the FDA Application Approvals 2000-2008 visualization (created by user mktlgcs) over at IBM’s Many Eyes to get an aerial view on the US. pharmaceutical industry.
New 23andMe website animation on human prehistory made by Ariana Killoran. Ariana created all the Genetics 101 films for 23andMe and the narrator was her pa. With these films the company clearly sets a new standard in popular scientific animations and videos.
What do you think, which company launched the first commercial and comprehensive personal genome service (based on a genome-wide SNP scan) on the market and exactly when?
We have 2 candidates here in the ring deCODE Genetics (founded in 1996, Iceland) and 23andMe (founded in 2006, USA), the AmundsenandScott of personal genomics. (please don’t take the analogy too seriously)
The when is important from a historical point of view because that day will be considered as the birthday of this infant industry. The birth month and year is November 2007 for sure. That means we are just approaching the 1 year anniversary of the commercial personal genetics/genomics industry and this sounds like a good timing to think about the achievements so far and the future ahead.
But let’s figure out the exact date first and here I think we should consider the day on which a personal genome service was launched for the first time directly available to costumers and when the first public orders were taken.
This is a golden day for 23andMe despite all crisis worries:
Mountain View, CA (PRWEB) October 30, 2008 — TIME Magazine announced today that the Personal Genome Service™ from 23andMe, Inc. has been named 2008′s Invention of the Year. 23andMe was chosen as the year’s most significant invention for its exceptional work in making personal genomics accessible and affordable.
From the industrial point of view what are the components of success here besides the obviously good team:
- mission: big, Google-sized mission: revolution of health care by personal genetic information as the source of upcoming personalized medicine
- biotechnology: based on the highest available technology platforms in microarrays (Illumina) (watch out, next gen sequencing is in the corner!)
- capital investment and network effect: I can only repeat myself: 23andMe is probably the most well-connected and backed startup in the history of Silicon Valley.(photo: happy 23andMe founders and early customers)
- information technology the cool and user-friendly factor of the browser based service is really amazing (in the past couple of weeks I demonstrated it to a bunch of people and even those were able to catch the essence of the available information who are older, web-unsavvy)
- simplicity of service: you just spit 2ml into a tube and FedEx it
- most aggressive marketing strategy based largely on the network effect among the power elite of the USA (and consequently, the world)
From the consumer point of view let me tell you 1 personal example of the lifestyle effect of the service: Read the rest of this entry »
The 2009 AAAS Science Dance Contest is for hidden artists disguised as scientists, nerds and shameless self promoters who are tempted to dance their PhDs, upload it to YouTube and enjoy microcelebrity. A real thesis live, non-profit but for fun and a one and only chance to make a fool out of you.
This is a perfect match for John Bohannon, The Gonzo Scientist (whom I introduced you back in 2007) who is an organizer, chronicler and participator of the contest and I must say I liked the rather-theatrical-performance-than-simple-dance version of his thesis, entitled The role of the WSS operon in the adaptive evolution of experimental populations of Pseudomonas flurescens SBW25 (here).
But what to think of the performance of a professor with a thesis title: “Analysis of thymic nurse cells in the chicken”? Artist, nerd, self promoter, did I miss something?
Here are the details of how to enter the contest and don’t miss to read about the prizes too (guests at the 2009 AAAS Annual Meeting in Chicago):
The contest is open to anyone who has (or is pursuing) a Ph.D. in any scientific field,Read the rest of this entry »
Finally 23andMe, my first personal genetics service provider, is on Twitter which could mean that from now on first-hand company information will flow even more continuously compared to what the regularly/daily updated eminentcorporate blog can offer. Microblogging is always quicker blogging! Based on the first 4 tweets (on the photo) the guys will not just simply link to the posts but communicate with other Twitterers and give informal & brand new info.
I ordered my first commercial genetic profile from 23andMe on the 9th of September online, FedExed my 2 ml saliva from Budapest to 23andMe, Mountain View on the 12th of September. I got the results today. That said within 3 weeks since the birth of the idea I purchased more than 500 000 SNPs of mine analyzed, evaluated and ready to be browsed. With this step I finally and quickly entered into the age of personalized genetics no matter how embryonic it is.
After a superficial first scan of my results I can say that it is a really interesting thing that instantly pushes me towards accumulating more knowledge on the personalized genetics field concerning specific traits, stats, risks and studies.
Here is a first look on what my Y chromosome SNPs are saying on my paternal haplogroup:
I learned for instance that based only on my genotype and not any environmental factors involved I have a lower than average riskRead the rest of this entry »
I had problems with my handwriting since elementary schools, or at least my teachers had continuous problems with it. Even during my university years I was asked sometimes to read out loud my essays, papers to them otherwise risking bad grades. Maybe it’s because I am a hidden right-handed using my left hand for writing or maybe I am just too impatient over the slow pace of handwriting (needless to say computers mostly solved this problem).
On this George Dysonphoto here you can see the SciFoo schedule in progress and I think you can easily pick the one with the ugliest handwriting on Aging and Life Extension:
If you are particularly fascinated by the future and enjoy playing games the following is something you should be involved and interested in. Superstruct, the world’s first massively multiplayer forecasting game started today with Superthreat scenarios by 2019. Game founder Jane McGonigal writes in a message sent to the members of Facebook Group the dedicated to the game:
Watch the news from the future, and find out exactly what dangers and challenges we face with Quarantine, Ravenous, Power Struggle, Outlaw Planet and Generation Exile.
With Superstruct IFTF introduces a revolutionary new forecasting tool: Massively Multiplayer Forecasting Games (MMFGs). MMFGs are collaborative, open source simulations of a possible future. Each MMFG focuses on a unique set of “future parameters,” which we cull from IFTF’s forecast research. These parameters define a future scenario: a specific combination of transformative events, technologies, discoveries and social phenomenon that are likely to develop in the next 10 to 25 years. We then open up the future to the public, so that players can document their personal reactions to the scenario.
Back in February I participated in a workshop held at Palo Alto where we actually played a Superstruct like game from within the IFTF’s X2 site.Read the rest of this entry »
It was already known that amongst the Google top people Sergey Brin is the one who is most interested in pushing biotechnology and the biomedical sciences: in his Stanford years he was interested in biology courses according to The Google Story, he married Anne Wojcicki (who graduted from biology at Yale), Google invested $4.4 million into 23andMe the pioneering personal genomics company co-founded by Anne, then Google invested into 23andMe competitor Navigenics too.
Now Sergey Brin added another, serious and personal reason to think that he is really, personally committed to the quick progress in the biomedical sciences: in his new blog – already a bit of an Internet history – called Too he disclosed that using the 23andMe personal genetics service he figured out something worrying about his and his family’s risk of Parkinson disease (his mother and her aunt are being already diagnosed with PD):
“I learned something very important to me — I carry the G2019S mutation and when my mother checked her account, she saw she carries it too. The exact implications of this are not entirely clear. Early studies tend to have small samples with various selection biases. Nonetheless it is clear that I have a markedly higher chance of developing Parkinson’s in my lifetime than the average person. In fact, it is somewhere between 20% to 80% depending on the study and how you measure.
The G2019S mutation is actually the rs34637584 SNP and lies in the gene LRRK2 encoding leucine-rich repeat kinase on chromosome 12. The mutation affects the first codon of the gene and is a guanine (G)-to- adenine (A) substitution resulting known as a missense and leads to a glycine – serine (hence the name) amino acid conversion in the protein product. Here is how the SNP position looks in the 23andMe browser using the sample family, the Mendels.
As the second operation of building my genetically well informed future yesterday (2 days after completing the order) I collected 2 ml of my saliva with the help of 23andMe’s Oragene DNA self-collection kit manufactured by DNA Genotek. First operation has been the sequencing of the D-loop of my mitochondrial DNA out of 5 ml of saliva in the lab at Tulane as a last control experiment, more on that later.
I’d be curious to know approximately how many people in Hungary or in Central Europe, or in all Europe have already used personalized genetics services like 23andMe or the Iceland based deCODE genetics’ genotyping services. As the whole industry is less than 1 year old (starting November 2007) there are not too many public stats available or at least I haven’t found any. With the recent (8th Sep) announcement of the modest $399 kit price reduced from $999 the pioneering personalized genetics service is now affordable for a lot more people, like me (compare it to the $600 iPhone early adopter fee, which I was unable not to buy). Read the rest of this entry »
Ok, I am officially done with New Orleans and moved to the Bay Area for the next couple of days to come, BioBarCamp and SciFoo Camp. On the photo some things I left behind and contributed with them to the culture of this special city.
“I’m basically trying to solve the problem that startups have in hiring the right people. A lot of it has to do with marketing (it’s hard for startups to get prominence over big named companies particularly in university settings), but also fit.“
And that is a very nice endeavour indeed!
I found 1 job description by typing “biologist‘ into the search field although manually I found a bit more mostly in the protein scene. Bioinformatician? Guess what. Hopefully the numbers will grow.
BioBarCamp is due in circa 3 weeks and we have now 45 BioBarCampers signed up on the list of attendees and our host the Institute For The Future has the capacity for around 55 more campers, roughly for 100 people in general. We already have a very valuable mix: researchers, biologists (grad, postdoc, PI), coders-engineers-bioinformaticians, biotech entrepreneurs, doctors, science journalists.
Here is the list so far and that’s also a chance for you to decide whether you want to join and meet us there in Palo Alto on the 6th and 7th, August and share, ask and answer, be the donor and receptor of ideas from all around biogeekdom. I am continuously trying to collect some links on the campers on the BioBarCamp FriendFeed Room to make future Campers preconnected.
Last year I was probably the only SciFoo Camper with an explicit life extension commitment. I suggested & held a session which was related a bit to partial immortalization but was rather about the systems biology perspective in general, illustrated with some examples. So throughout the terrific SciFoo Camp 2007 life extension as a conversation topic remained rather implicit (ok, close to zero) and there was not much room to discuss it in the lack of other fellow life extensionists.
In my opinion the whole point of unconferences is to form the good aggregate of people with a common interest & similar/complementer message to join forces in order to draw enough (intellectual) attention for their topic. In this context, an unconference is about topics at the first place, not just about people. Idea networking is as important as social networking.
And if something fits 100% with the idea of SciFoo it is life extension/aging just as handling terrantic scientific datasets, open science or climate change as all these topics are utterly complicated and quite urgent screaming for the attention of the smartest people.
So I emailed Timo Hannay, SciFoo organizer:
“One thing I’ve noticed is that it would be very good to organize a session on scientific life extension technologies and consequences, because the SciFoo people are ideal to see and discuss all angles of this really important topic.”
The concept of decellularizing complex organs in cadavers and reseeding the remaining matrix structure with differentiated, stem or progenitor cells, growing in a bioreactor and transplanting back to the organism could turn out to be a real technological shortcut in the field of tissue engineering. It is not a brand new story on the web, but it is quite new in science and when I heard Doris Taylor at the Understanding Aging Conference talking on that….well I was really amazed.
Dr. Taylor not only showed the pictures of a complete decellularized rat heart matrix, but in fact they did it on a whole rat framework. So the obvious question is whether the technique could be extended to complete human cadavers (imagine the bone and the bone marrow situation) and if yes, when and how? I am sure if there were a useful clinical near term application of this type of tissue engineering, people would include that option too into their testaments.
And now a pop video on the topic and the abstract:
I try to cover some interesting, sciencey points on the conference in later posts, right now just a brief, subjective human- and strategy focused summary:
Congrats to Aubrey de Grey and the team, everything went well and if finally a worldwide consensus is around the corner claiming that robust healthy lifespan extension is technologically possible and worth achieving it is largely due to Aubrey’s relentless networking, organizing activity and American like pushy marketing strategy! Well done!
Had a nice chat with a diverse bunch of interesting people amongst others: Barbara Logan, Nason Schooler, Todd Huffman, Betty Liu, the startupperAndregg brothers, Mark Hamalainen, Keith Causey, Ben Zealley, Brian Martin and sure I forget to mention many more here.
In the photo (thanks Barbara Logan): Neal Van De Ree, Florida auctioneer and activist, John Furber, Legendary Pharmaceuticals, Florida, Aubrey, Paul Logan, Alex Zhavoronkov, GTCBio, BioGerontology Research Foundation Damian Crowe, Genescient, BioGerontology Research Foundation and yours truly.
What we do:
Halcyon Molecular is developing an ultra-low-cost DNA sequencing technology. Our single molecule approach does not require PCR amplification and will allow for megabase read lengths with simultaneous determination of methylation pattern. We aim to sequence entire human genomes de novo for well under the “holy grail” cost-to-consumer of $1000.
I argued many times here that biology based biotechnology is the next information technology but in order to do so, biotech should harness good IT patterns and mimic its massive computing practices to handle the enormous amount of constantly accumulating data. Often this trend could be summarized in a simple way: keep your eye on Google and conduct thought experiments in advance in which science is done in a Googleplex like environment in terms of the computing & financial resources and algorithm heavy engineering culture. Use Python and learn cluster computing and MapReduce. With the expected launch of the massive scientific dataset hosting Google service – nicknamed Palimpsest – this year finally a direct interface between scientists and Googlers emerges and hopefully opens up possibilities for scientists to cooperate with Google. (Remember my joke on Google BioLabs back in 2006)? I get emails from biologists, bioinformaticians asking me how to be hired by Google ever since then. As I tweeted yesterday: I growingly have the impression that “being ambitious” today = ‘worked, is currently working, is going to work at/for Google’ Taking Google’s inter-industrial power into consideration I see a real chance that some day the “Google of Biotechnology” title goes not to a startup yet to be emerged, not to Genentech or to 23andMe but……to Google itself. No kidding here. Fortunately Google’s model is “to build a killer app then monetize it later” says Andy Rubin, the man behind Google’s Android mobile software in the July issue of Wired so scientists working for the big G probably won’t have to worry about turning their scientific killer app into an instant cash machine.
And now in the very issue of Wired magazine (not online yet ) there is an exciting cover story on the same pattern I talked about concerning the life sciences but in the broader context of every kind of science with the provocative, Fukuyama-like title The End of Science. There is a witty and short essay from editor-in-chief Chris Anderson entitled The End of Theory followed by examples of the ‘new science’ like the The Large Hadron Collider expected to generate 10 petabytes if data/second, The Sloan Digital Sky Survey heaven catalog maker accumulating 25 terrabytes of data so far, the skeleton scanning project of Sharmila Majumdar and the Many Eyes project “where users can share their own dynamic, interactive representations of big data”.
For many people around the globe, Chris Anderson is a freeconomist & the author of a popular airport book but fewer people are aware that he was actually trained as a (quantum) physicist and even worked at Los Alamos Read the rest of this entry »
I always had the feeling that the Natureplex (the web division of the Nature Publishing Group headed by Timo Hannay) is ahead of most scientific journal publishing conglomerate’s similar departments. Now with the help of a new Google Trends layer that compares websites in terms of traffic this impression was confirmed again without strict numbers. I hope that more and more scientific journals gain incentives finally to experiment with new web technologies. Also a quick look to the Regions comparison on the bottom left helps you give up the history based conclusion that Science is the number 1 on the web in the US compared to Nature while Nature is so UK and Europe centric.
“Today, we add a new layer to Trends with Google Trends for Websites, a fun tool that gives you a view of how popular your favorite websites are, including your own! It also compares and ranks site visitation across geographies, and related websites and searches”
Even tech people in Silicon Valley need to join their powerful forces and sources when it is about aging related neurodegenerative diseases and help research and the clinic.
It’s my first real encounter with a situation in which the officials of the state of California are clearly against innovation for financial reasons obvious enough (is enough):
Wired.com has obtained a copy of the cease-and-desist letter sent to Navigenics by the state of California’s Public Health Department from a company spokesperson.
The letter’s strongest wording is reserved for another section of the law, Business and Professions Code Section 1288, which requires a doctor’s note for all laboratory tests, unless, like pregnancy tests, they are exempt from that law.
“Genetic tests are NOT exempt,” the letter reads. “As such, the test must be ordered by a physician or surgeon.”Read the rest of this entry »
It’s official: The California Department of Public Health wants practicing physicians (many of them prehistorically, sorry, traditionally trained) to be the patres familias in issues between personal genetic test takers and direct-to-consumer personal genetic testing start-ups while declining the test takers’ right to get familiar with their own genetic makeup and risks by their own. Calif. cracks down on 13 genetic testing startups
California health regulators have demanded that 13 direct-to-consumer genetic testing startups halt sales in the state until they prove they meet state standards. All the companies have two weeks to demonstrate to regulators that their laboratories are certified by the state and federal governments, said department spokeswoman Lea Brooks. The startups also must show the tests they are selling California residents have been ordered by a doctor as required by state law.
The “Understanding Aging: Biomedical and Bioengineering Approaches”conference will be held from June 27-29, 2008 at UCLA organized by Aubrey de Grey, Irina Conboy and Amy Wagers. I like to call it UndertsEnding Aging in myself and I am excited to go to LA and meet new people also people from SENS3.
Yesterday I created a FriendFeed room for the conference as it seems to be a perfect place of live microblogging the conference, sharing any kind of links, videos, comments, feeds and feedbacks. Working on aging and the postponement of it (you can bravely say life extension) is always a pioneering work so it’s time to use pioneering web apps for that purpose, just like FriendFeed.
Aubrey de Grey, Kevin Perrott and Kevin Dewalt have already joined the room. What about you? See you on FriendFeed, see you on LA!
The Wall Street Journal Patent Board Biotechnology Scorecard was published this week in which biotech companies & private research firms are grouped by their Patent Board science strength ranking “which is based on the scale, quality, impact, and nearness to core science of a company’s patent-based intellectual property”.
What I found interesting at the first sight is Geron‘s nice position and the lack of Genentech. Also take a look on the charts and compare, say Illumina and Affymetrix or the research intensity/innovation cycle ratio in case of the same company.
Says my source, San Diego biased marketing expert Rick Cook in an in medias res email:
“Three of the top 10 science-based researchers, according to the rankings, are based in San Diego. Several other San Diego companies fall outside the top 10. Nanogen, one of my clients, made the rankings. What’s particularly interesting about Nanogen — who competes against #1-ranked Roche — is that the company has by far the lowest market cap (just over $28 million) represented in the rankings. In fact, if you divide patents issued by market cap, which could be used as a proxy for size, Nanogen ranks number one — dollar-for-dollar the most innovative company on the list.”
Internet celebrities are not celebrities in a sense that you can easily communicate with them on services like Twitter (assuming the services are not down). There’s no such thing as an internet bodyguard except some firewalls in Windows. So this day I found Craig Newmark, Craigslist founder tweeting this:
Also a good presentation by Linda Avey, other co-founder, for instance on data privacy and service security:“We take the security of our customers’ data to the highest degree…you guys (Googlers) are very much of the same mind..One of our leading engineers is probably the most paranoid man we’ve ever meet and he is the perfect guy for that.
Here are my screenshots on the genetic puzzle on the Google triumvirate presented by Anne Wojcicki:
When I wrote about BioBarCamp for the first time, it was just an idea to organize an unconference for biogeeks, people interested in life scientists around SciFoo Camp time.
Sometimes in looking forward it’s good to look back. In cardiac regenerative medicine, probably the only clear success to date is heart transplantation. From the initial grant that Norman Shumway received in 1958 [to study the possibility of heart transplantation] it took more than two decades before the procedure became routine.
Shumway was a careful, thoughtful man. He not only didn’t do the first heart transplant; he didn’t do the second. He was slowed down in the United States because of the regulatory barriers and ethical concerns. Christiaan Barnard, on the other hand, went back to South Africa and decided to just go for it. Sounds familiar?
We realized very quickly that this was not working, that the science was not there. In 1968, a year after his first attempt, Barnard gave up on the procedure and considered it a failure. Everyone gave up, except Shumway. He went back to the lab and spent the next ten years figuring it out. He realized that the issue was rejection.Read the rest of this entry »
Consumer-Enabled Research, the second goal of pioneering personalized genetics company 23andMe, reached its first generation with the launch of 23andWe.
“23andWe marks a new approach to genetics research. By directly involving 23andMe customers in the company’s research projects, the goal is to conduct large-scale studies powered by a web-based community of diverse individuals who are willing to share information (on a confidential basis) about their health and other personal traits.”
