Huntington's disease - HTT gene (chr4) - dominant and penetrant
Alzheimer's disease - APOE gene (chr19) - strictly not single-gene disease but 1 epsilon allele copy x3 chance, 2 copies x15 chance
Cystic fibrosis - CFTR gene (chr7) - autosomal recessive - mainly Caucasians
Tay-Sach's disease - HEXA gene (chr15) - autosomal recessive - almost exclusive to Ashkenazi Jews
Hemophilia - X-linked recessive (hence more males than females)
-----http://en.wikipedia.org/wiki/Genetic_disorder#Single_gene_disorder
-----http://www.nytimes.com/2009/01/11/magazine/11Genome-t.html?pagewanted=all
Wednesday, November 9, 2011
Tuesday, November 8, 2011
Plantronics 903 and 903+ headphones do not charge/no power
Previously my headphone from Plantronics SUDDENLY played dead and wouldn't turn on. It was irritating because it happened just right a few days BEFORE I was about to leave for Singapore.
So I scoured the Web for any resolution. It turned out there were a slew of complaints and yelling and profanities on this problem but the gem of a solution only turned up after my persistent search on page 2 of this forum and in the middle: http://soundingboard.plantronics.com/t5/Mobile-Bluetooth-Headsets/backbeat-903-no-power/td-p/4451/page/2
For archiving purpose and for those of you lucky enough to find my page or the forum above:
TIP 1: This works for 903+ as well!!
TIP 2: this doesn't always work the first time. The first time this happened to me, it worked like a charm (happy). The second time I have to try a couple of times relentlessly (DON'T give up) before it came back to life.
I like the sleek design of the bluetooth device. Hopefully I get to use it a year or 2 more.
Let me thank "Dna" again. Whoever you are. You sure made a lot of people happy with that simple post.
So I scoured the Web for any resolution. It turned out there were a slew of complaints and yelling and profanities on this problem but the gem of a solution only turned up after my persistent search on page 2 of this forum and in the middle: http://soundingboard.plantronics.com/t5/Mobile-Bluetooth-Headsets/backbeat-903-no-power/td-p/4451/page/2
For archiving purpose and for those of you lucky enough to find my page or the forum above:
I found a solution you connect the device to the charger and keep the on/off button pressed like 5 seconds, at the same time you unplug the AC charger and reconected so the blue light truns on
iIT worked for me and I had the same problem they just died when I listened to music no sweat no nothing
---- Dna
TIP 2: this doesn't always work the first time. The first time this happened to me, it worked like a charm (happy). The second time I have to try a couple of times relentlessly (DON'T give up) before it came back to life.
I like the sleek design of the bluetooth device. Hopefully I get to use it a year or 2 more.
Let me thank "Dna" again. Whoever you are. You sure made a lot of people happy with that simple post.
Monday, November 7, 2011
Personality tests
Eating dinner while doing a personality test helps concentrate the mind on some other things. Tried the Jung and Briggs Myers Test again.
The first time I tried some years ago I had INFJ - articles 1 | 2 | 3 | 4 - they call this type "the protector, or "the confidant".
This time round I have INTJ - articles 1 | 2 | 3 | 4 - "the mastermind", "the scientist" or "the strategist".
With heavy percentages on the Intuitiveness and Judgement categories.
So I guess it's a straddle between both personalities. Wow, both belong to a mere 1-2% of the human population. I am a rare species. =) People belonging to these categories even band together: INFJ Dolphin Cove and INTJ Central. I am very surprised people actually find the effort to put these things together.
I find personality tests very entertaining to do and sometimes very interesting. And most of the time, overrated. Oh, also they have really fancy names for the personality types.
The first time I tried some years ago I had INFJ - articles 1 | 2 | 3 | 4 - they call this type "the protector, or "the confidant".
This time round I have INTJ - articles 1 | 2 | 3 | 4 - "the mastermind", "the scientist" or "the strategist".
With heavy percentages on the Intuitiveness and Judgement categories.
So I guess it's a straddle between both personalities. Wow, both belong to a mere 1-2% of the human population. I am a rare species. =) People belonging to these categories even band together: INFJ Dolphin Cove and INTJ Central. I am very surprised people actually find the effort to put these things together.
I find personality tests very entertaining to do and sometimes very interesting. And most of the time, overrated. Oh, also they have really fancy names for the personality types.
The power of crowdsourcing
I am sure alot of people do not realize that scientists are slowly tapping into the power of the masses. I have known the use of online computer games in helping to solve protein structures by David Baker's Lab at University of Washington, and protein folding problems at Stanford. Ed Yong of "Not exactly Rocket Science" has an extremely good post on one of the latest developments at Foldit. Recently, I have come to know personal genomics projects that extended from the minds of the public too.
You submit your genomic information to them and get it analysed FOC and/but also get it publicized online. People might be concerned about privacy issues but more often, the submitters know about the risks and are not unduly concerned. Notably, the Dodecad Ancestry Project and Eurogenes Genetic Ancestry Project have garnered a substantial number of volunteers in their analyses (order of 1000s). This is a good number for a peer-reviewed publication!
In a way, it sounds ironic that the general population pays taxes to fund these genomic projects, pay scientists/clinicians etc to do the jobs they do, and end up having a part of the useful results being generated from the public themselves.
Closer to heart, it brings up two concerns:
1) Informal bioinformatics is on the rise. With the advent of Web 2.0 and the Semantic Web, it is here to stay. Probes the question: What becomes the value of bioinformaticians?
Healthy competition breeds higher-quality academic/industry bioinformaticians; you basically have to prove you are better than the layman or just the technical-savvy people out there. Set ourselves apart by depth and breadth.
i.e. They are here to stay. Deal with it...
2) Church argues that better access to high-quality data could help this kind of informal bioinformatics to flourish, enabling computer-savvy people to make important contributions to genomics, just as they have with online businesses such as Facebook. "It didn't take that much training to become a social-networking entrepreneur. You just had to be a good coder," he says. With bioinformatics, "I think we're in a similar position." ----- http://www.nature.com/news/2010/101215/full/468880a.html
I am particularly concerned about George Church's comment. I am a fan of his work. This might be misconstrued but a great scientist of our times making comment on your profession on being "just a good coder" (AKA with little sense of biology) hit a raw nerve. The acceptance of the scientific community on bioinformaticians has been ambivalent. With this public encroachment into our ambit, this is simply unnerving: What am I doing in grad school doing all these?
EDIT 11/8/11: Kaggle pays you to crunch numbers! An article describes this.
You submit your genomic information to them and get it analysed FOC and/but also get it publicized online. People might be concerned about privacy issues but more often, the submitters know about the risks and are not unduly concerned. Notably, the Dodecad Ancestry Project and Eurogenes Genetic Ancestry Project have garnered a substantial number of volunteers in their analyses (order of 1000s). This is a good number for a peer-reviewed publication!
In a way, it sounds ironic that the general population pays taxes to fund these genomic projects, pay scientists/clinicians etc to do the jobs they do, and end up having a part of the useful results being generated from the public themselves.
Closer to heart, it brings up two concerns:
1) Informal bioinformatics is on the rise. With the advent of Web 2.0 and the Semantic Web, it is here to stay. Probes the question: What becomes the value of bioinformaticians?
Healthy competition breeds higher-quality academic/industry bioinformaticians; you basically have to prove you are better than the layman or just the technical-savvy people out there. Set ourselves apart by depth and breadth.
i.e. They are here to stay. Deal with it...
2) Church argues that better access to high-quality data could help this kind of informal bioinformatics to flourish, enabling computer-savvy people to make important contributions to genomics, just as they have with online businesses such as Facebook. "It didn't take that much training to become a social-networking entrepreneur. You just had to be a good coder," he says. With bioinformatics, "I think we're in a similar position." ----- http://www.nature.com/news/2010/101215/full/468880a.html
I am particularly concerned about George Church's comment. I am a fan of his work. This might be misconstrued but a great scientist of our times making comment on your profession on being "just a good coder" (AKA with little sense of biology) hit a raw nerve. The acceptance of the scientific community on bioinformaticians has been ambivalent. With this public encroachment into our ambit, this is simply unnerving: What am I doing in grad school doing all these?
EDIT 11/8/11: Kaggle pays you to crunch numbers! An article describes this.
Sunday, November 6, 2011
9000 tumors for personalized cancer treatment
"The £5.5 ($8.7) million Stratified Medicine Programme, led by the charity Cancer Research UK in partnership with the National Health Service and London-based AstraZeneca and New York-based Pfizer, aims to develop a standardized national genetic screening service to help tailor oncology treatments for patients. "
"Genetic stratification allows clinicians to determine which individuals will respond to which treatment, for instance, KRAS testing in bowel cancer to see if Amgen's Vectibix (panitumumab) and Imclone's Erbitux (cetuximab) is indicated."
------ Aldrige, Nature Biotechnology 29, 854 (2011)
Indeed, Pharma firms are moving away from the conventional "one drug fits all" doctrine. It is exciting to see how personalized medicine will pan out. Especially with each individual's data currently in seemingly fragmented states: Person X can do genetic testing on 23andMe on an array, exome sequencing and cancer profiling but she/he will never find them consolidated all under her electronic health record.
"Genetic stratification allows clinicians to determine which individuals will respond to which treatment, for instance, KRAS testing in bowel cancer to see if Amgen's Vectibix (panitumumab) and Imclone's Erbitux (cetuximab) is indicated."
------ Aldrige, Nature Biotechnology 29, 854 (2011)
Indeed, Pharma firms are moving away from the conventional "one drug fits all" doctrine. It is exciting to see how personalized medicine will pan out. Especially with each individual's data currently in seemingly fragmented states: Person X can do genetic testing on 23andMe on an array, exome sequencing and cancer profiling but she/he will never find them consolidated all under her electronic health record.
Friday, November 4, 2011
Cannot open Office 2007 docx document!!
I haven't had sleep for more than 30 hours now.. We are trying to rush this manuscript out for M to vet before he goes off on vacation. Been a hell of a week.
Just wanted to share a quick and dirty way to get around this problem.
Anyway, Ja sent me her Word docx and I couldn't open it in Windows Office 2007. Got this error:
Tried all the ways on this error warning but to no avail. But I really need it to work. So I sent emails out to Ja and A, they re-sent me the original files >_<. A said he got it to work by converting to PDF format (right-click) for Mac. That is a good solution for Mac (if you guys are Mac users), except that it's not editable now and that doesn't work for me because Windows needs to still open the file for conversion; they use Mac, so maybe that was a good workaround but truth be told, I have no idea about Mac .
Solution/workaround:
An epiphany suddenly occurred to me. Without even thinking twice, I changed the extension "docx" to "doc" and voila! Open sesame indeed! Then I just re-saved it as a "docx" Office 2007 format file.
Speculation what has gone wrong:
1) Maybe the saving process by Ja was somehow interrupted on her Mac.
2) Somehow encoding got scrambled.
3) Just bad luck.
Just wanted to share a quick and dirty way to get around this problem.
Tuesday, November 1, 2011
Friendster to convert and Mark Zuckerberg's profile
I was astounded to see this page when I tried to access Friendster's website:
http://www.friendster.com/
Apparently, it has revamped to a social music and gaming site, relinquishing the share of social networking to Facebook totally. Old news but I just came to know of this:
http://www.nytimes.com/2011/04/27/technology/27friendster.html
They had called for old users to "export" their data out by June 2011. I am 5 months behind. Oh well, it did provide me with fun and amusement back then. Like everything else, "nothing really lasts forever".
Mark Zuckerberg might need to think about this adage and reinvent himself if he desires his legacy to persist. Anyway, here is an article about his Friendster profile. Just an entertaining gossipy read on a celebrity.
http://gawker.com/5691841/when-facebook-ceos-was-publicly-obsessed-with-asian-girls
And on the other face of the coin, you have Jonathan Abrams, touted often as the pioneer in social networking, the original founder of Friendster and also the cause of a biotech company management failure. But. there isn't even a Wikipedia page on him. Perhaps not so down and out, he currently has his hands full with a pub (Slide) and a site that does what seems like social networks based on socializing events (Socializr). A very ambivalent interview with him can be found here:
http://www.inc.com/magazine/20070601/features-how-to-kill-a-great-idea.html
His story from this article sounds uncannily familiar, akin to a certain Steve Jobs in many ways.
http://www.friendster.com/
Apparently, it has revamped to a social music and gaming site, relinquishing the share of social networking to Facebook totally. Old news but I just came to know of this:
http://www.nytimes.com/2011/04/27/technology/27friendster.html
They had called for old users to "export" their data out by June 2011. I am 5 months behind. Oh well, it did provide me with fun and amusement back then. Like everything else, "nothing really lasts forever".
Mark Zuckerberg might need to think about this adage and reinvent himself if he desires his legacy to persist. Anyway, here is an article about his Friendster profile. Just an entertaining gossipy read on a celebrity.
http://gawker.com/5691841/when-facebook-ceos-was-publicly-obsessed-with-asian-girls
And on the other face of the coin, you have Jonathan Abrams, touted often as the pioneer in social networking, the original founder of Friendster and also the cause of a biotech company management failure. But. there isn't even a Wikipedia page on him. Perhaps not so down and out, he currently has his hands full with a pub (Slide) and a site that does what seems like social networks based on socializing events (Socializr). A very ambivalent interview with him can be found here:
http://www.inc.com/magazine/20070601/features-how-to-kill-a-great-idea.html
His story from this article sounds uncannily familiar, akin to a certain Steve Jobs in many ways.
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