Persistence really pays off, and this is especially true in genetic studies. After 35 years of combined research, a father-and-son team has finally identified the source of the gene that causes the heart’s electricity to go awry.
For three hundred years, a South African family has been plagued by progressive familial heart block, a disease of the electrical system of the heart. The disease causes an affected person to have irregular heart beats, fainting spells, seizures or sudden death. The risk is greatest soon after birth, during puberty and early twenties and returns in the middle age, and a …read more

Thirteen years and US $10 billion later, the first of several human genomes were completely sequenced in 2003 in what is now known as The Human Genome Project. From then on, scientists dreamed of and aimed to get the cost of DNA sequencing down to $1,000 per person.
Although the running cost was around $250,000 per genome last year, well, that’s still thousands more expensive than most people can afford. No wonder only seven people have had their DNA fully sequenced!
But that could all change from now on. A whole genome has been sequenced for only $50,000. Stanford …read more

Just a short note and congratulations to Dr. Francis Collins for being confirmed as director of the National Institutes of Health.
According to the Associated Press, Collins was confirmed by the US Senate yesterday via voice vote (say “aye” or “nay”), so I’d have to say this was an even easier confirmation than Judge Sonia Sotomayor, who took her oath today from Chief Justice Roberts as the first Hispanic justice of the US Supreme Court after a non-event of hearings.
Collins is a familiar face and name at the NIH, having been one of the prime-movers of the human genome project as …read more

It looks like Proctor & Gamble scientists have just discovered the secret to youthful skin: it’s in 1,500 genes.
Using data from the Human Genome Project, P&G scientists identified some 1,500 genes that are responsible for how skin ages. Of those, up to 700 genes control how skin collects and retains moisture.
According to an article in the Daily Mail, there are separate ways that skin ages, and each of these are controlled by their own set of genes:

Collagen (the protein that gives skin its structure and strength) degrades.
Skin loses its ability to keep it hydrated.
Fewer skin cells are produced with time.
Wrinkles …read more

After the genome maps of an African, two Europeans, and a Chinese have been published, a Korean professor claims to have completed the “most accurate” genomic map yet – that of a 30-some healthy Korean male. The map is 99.94 accurate, having repeated analyses say, on chromosome 20, an average of 150 times.
A research team lead by Professor Seo Jeong-Seon, from Seoul National University, published its finding on Nature. Professor Seo emphasized the importance of having an accurate map as a foundation of personalized medicine.
“It is important to have precise and accurate genome information of an individual since it is …read more

What does mega-search engine Google and mega-genome services company 23andMe have in common?
Two actually, and maybe more…
First – investments and second, spouses.
This week, Google invested $2.6 million in 23andMe on top of the $7 million invested so far. No surprise there, since Google’s co-founder Sergey Bring is the spouse of 23andMe’s co-founder Anne Wojcicki. But as CNN remarked, it’s one the perks of marrying Google.
 
In another news, biotech giant Illumina has launched a personal genome sequencing service. That is, you can have your entire genome sequenced – all 3 billion DNA – for a hefty …read more

For the first time, US researchers have decoded all the genes of a woman who died of myeloid leukemia, and they found 10 mutations that contributed to the development of her cancer.
This finding is significant on several fronts. It’s the first time that a cancer genome has been sequenced. The scientists took samples of both cancer and normal skin cells from the same woman, and sequenced the DNA on both samples. Previous to this, the focus was on select regions of the genome, called candidate regions, suspected of carrying genes that cause or contribute to cancer.
The study …read more

Welcome to the 39th edition of Gene Genie, the carnival of clinical genetics and personalized medicine.
 
Personalized genomics are all over the news lately, so let’s jump right and see what’s going on.
Personalized Genetics 
The financial troubles of deCODE Genetics continue to grow following the massive layout last March. Eye on DNA touches on the (im)practicality of genetic testing during recessions.
Genome Alberta joins the enthusiastic PG crowd when Mike Spear showed his own genetic test results at a student conference.
Gene Sherpas take a swipe at 23andMe for allowing genetic data to be used to make medical decision.’
It’s not only …read more

Complete Genomics launched this week with an announcement to provide a person’s entire genetic sequence for $5,000 each.
The company’s ultimate goal is to sequence 1 million complete genomes, or 1,000 people each in 1,000 disease studies, in the hopes of revealing the genetic basis behind major human diseases. From a scientist’s point of view, this is exactly the data and perhaps sample size we need to study the role of genetics on development and cause of disease. It would be a nightmare to analyze, but it won’t be for lack of data, if the sequence will be made available …read more

It’s Monday, and there’s plenty of catching up to do around the world of genetics. This week month -
The Broad Institute received an astonishing $400 million endowment from the donors that bear its name. The Institute helped mapped the full complement of the human genes. This record-setting gift will fund genomics research.
A melanoma cell line mistakenly identified as breast cancer cell line was used in more than 650 published breast cancer studies. The mistake happened 25 years ago, and could have implications for the cancer studies the cell line was used in.
The NIH awarded $138M to 47 scientists for …read more