It was just reported today that: “A Harvard University scientist backed by Google Inc. and OrbiMed Advisors LLC plans to unlock the secrets of common diseases by decoding the DNA of 100,000 people in the world’s biggest gene sequencing project.”

What nothing better to spend $1Billion on?  Why are they doing this you ask….

Harvard’s George Church plans to spend $1 billion to tie DNA information to each person’s health history, creating a database for finding new medicines. The U.S., U.K., China and Sweden this year began working together to decipher the genetic makeup of 1,000 people at a cost of $50 million.

Google, owner of the most popular Internet search engine, is looking for ways to give people greater control over their medical data. Along with the unspecified donation to Church, the Mountain View, California-based company said last week that it would work with the Cleveland Clinic to better organize health records, and last year gave $3.9 million to 23andme Inc., a seller of genomic data to individuals.

Church’s plan “would be the largest human genome sequencing project in the world,” Stephen Elledge, a geneticist at Harvard Medical School in Boston, said in a telephone interview today. “The genetic variations are what make people different, and we need to understand the connections to human disease. They’ll get a tremendous amount of information from this,” said Elledge, who isn’t involved in the project….“If we can expand the project, we’ll probably go for a million genomes,” Church said.

Personalized genetics and genomics are hot topics - Read more about the concepts here.  With these two you either look to an individual’s genetics to see how it will impact a disease or a treatment (a single gene) or with genomics “This is the dream of everyone gets a genome sequenced at birth, we assess risk, create prevention plans, identify idosyncratic drug reactions prior to medication therapy”.

The medical and financial impact for the company owning this data in unimaginable.  The source of individual variability of response to drugs and individual susceptability to disease could be greatly unlocked - as well as mined for new therapeutics.  Google of course is getting into all medical databasing starting with your health record and I predict images of your diseases next.

Scientists in the UK have successfully tricked stem cells from a female to develop into sperm.  If these cells are functional then the possibility exists for an “all-female” baby to be made from the cells of a same sex female couple.  This is the next step forward from a group that earlier did the same thing with cells from a man.

This study was reported in the British Telegraph Newspaper.  They listed it as embryonic stem cells from a female human embryo - they are likely wrong - as I read the report it appears to be cells isolated from an adult female human bone marrow. 

This same group from Newcastle University led by Prof. Karim Nayernia reported last year that they had made a sperm from the bone marrow of an adult man.  I reported on this research in my previous post Babies Without Men and how it opened the possibility of making sperm from a female and creating a female-female baby.  The details of the original project, ethical and genetic risks  and  heated (and sometimes nasty) debate on lesbian-lesbian parenthood are here.

He now reports that he has repeated the experiment and made the sperm from the marrow cells of a female.  The work has not yet been published not subjected to peer review. 

I previously reported that I think there is a ticking genetic time bomb here due to imprinting errors.  The genes that come from your mother and father are in some cases marked as such genetically and one copy may be shut off.  In some cases only the gene from mom is active in others only the one from dad.  This new process may mess with this system - and imprinting errors are known to cause genetic diseases in some cases.  In fact, the telegraph reports of some “problems”

Prof Nayernia showed the potential of the method in 2006, when he used sperm derived from male embryonic stem cells to fertilise mice to produce seven pups, six of which lived to adulthood, though the survivors did suffer problems.

They also report it could be used to make eggs from a gay man’s cells “a gay man to donate skin cells that could be used to make eggs, which could then be fertilised by his partner’s sperm and placed into the uterus of a surrogate mother.”

While they also report he is seeking permission to create a baby in this way, the UK is very restrictive on new reproductive technologies.  They have a law- the 1990 Human Fertilisation and Embryology Act- that restricts what can and cannot be done. 

I wanted to catch up with the recent carnivals and thank them for including docinthemachine’s posts. First was keagirl a great medblogger who writes at urostream.  This grand rounds was straight to the point and a cavalcade of posts.  Thanks for including my post on technology: is it god evil or neutral?

Dr Palter from Doc in the Machine (a blog aiming at transforming medicine with tomorrow’s technology) discusses “Evil Tech“, about how some people believe that some technologies are inherently good or evil - especially developments in medicine and the military.

Next came the always fun Dr.Dork (how can you not love someone who blogs about himself in the third person?) - along with some of the funniest grand rounds photos ever.

My post on genetic screening for STD’s added to pap smears was added to the research section

Docinthemachine blogs on new developments in genetic pap smears which could lead us one step closer to eradicating some common STDs.

Last but not least was my first submission to gene genie.  I submitted at the request of Bertalan Meskó from Science roll- the master of medical web 2.0 and genetics on the web. He writes gene genie is:

a new blog carnival on genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks). But we also accept articles on the news of genomics and genetics.

Gene Genie this week was hosted over at Sandwalk. Thanks to Larry Mogan, a professor of biochemistry at Toronto and also a genetic blogger.  He added my post on preimplantation genetic screening for patients with Huntington’s Chorea- and hiding the results from them.

Steven F. Palter posts on a very sensitive topic—whether a patient wants to know if they carry a possibly lethal genetic mutation. For example, what if you are at risk for Huntington’s disease and you simply do not want to know whether you will die in your 40’s or not? That’s fine as long as you don’t have children but do you want to pass the defective gene to your children if you carry it? How can you have children without risk if you don’t want to know whether you are a carrier or not? It turns out there’s a way and Steven Palter explains how in Beyond Genetic & Prenatal Testing- Pre-embryo Testing - Hiding the Results From the Patient.

I enjoyed these three blogs so much aI added them all to my blogroll!

Woody Guthrie Died from Huntington’s Chorea

Medviews (host of next weeks grand rounds) has an interesting post about the dilemmas of genetic testing for deadly diseases such as Huntington’s Disease (he has one error- he calls it autosomal recessive but it is actually an autosomal dominant disease).  For those unfamiliar see notes from the Huntington’s disease society on testing.  The issue is if you get a copy of the disease gene from a parent you will develop the disease - and it is an awful one.  There is progressive motor and cognitive degeneration ultimately leading to death.

He writes

There was a wonderful and touching piece in today’s New York Times detailing a young woman’s life as she comes to grips with her family’s history of Huntington’s Chorea (HC), an inherited disorder striking a patient with dementia and muscular discoordination in mid-life.

Ms. Moser, in a poignant and courageous decision, decided to take a genetic test to see whether she would develop the disorder. Unfortunately, the result came back positive, which, because of its recessive genetic nature, meant that both she and her mother would have the disease. Ms. Moser has come to grips with the life-altering nature of the news. She will apparently not have children, and will continue to devote her working life to the care of HC patients.

You see the standard up until now has been that since there is no treatment, diagnosis is a death sentence.  Would you choose to know you have it?  How would it affect your life?  Many at risk have chosen NOT to be tested (it is a 50:50 shot if a parent has it that you would get it).

What many don’t know is that the genetic puzzle is now even more complicated due to PGD- preimplantation genetic testing.  In PGD a fertility doc like myself will have the patient undergo IVF.  When the embryos are at the 3 day 8-10 cell stage we biopsy them, take a cell, and do a rapid genetic sequencing to look for the target gene- in this case Huntington’s.  If that particular embryo is affected we choose not to place it back into the womb and instead choose and unaffected one.

 What happens in Huntingtons where the patients often have chosen to not even be tested themselves?  I have had these patients.  We can do what is called “non-disclosing PGD”.  Here, we go through the whole process but the results not shared with the patient (by their choice).  We choose the unaffected one to replace and the patient does not know if there even were any embryos that were affected.  Either they don’t have the disease (and all embryos are healthy) or they do have it (and we just did not put the affected ones back in). 

Personally, I think I would want to know but then again I am not in their shoes.  As it has been said- live each day as if it were your last. 

More amazing is that this technique of PGD could potentially be used someday to help eradicate single gene disease from the human genome.  Do you think it should be used to rid the population of diseases?  If so which ones?!

Read more about PGD and controversy surrounding it here