Gene Genie Number 16


(Gene Genie logo created by by Ricardo Vidal)

Welcome to the 16th edition of Gene Genie, the carnival of genes and genetic diseases.

In this edition, genetics gets personal. The recent publication of Craig Venter’s genome (and, before that, James Watson’s) was big news. It ushered in the new era of personal genomics, to which a special section of this edition of Gene Genie is devoted.

So, without further ado, let’s take a look at the entries for this edition.

Genes & genetic diseases

First off, we have several posts about cancer genes. BRCA1 is a tumour suppressor gene that normally prevents the uncontrolled cell division which can give rise to tumours. Mutations in this gene increase the risk of both breast and ovarian cancer. At Eye on DNA, Hsien-Hsien Lei discusses how knowledge that one carries a BRCA1 mutation affects quality of life.

At Highlight Health, Walter looks at a novel tumour supressor gene called HACE1 that inhibits growth in multiple forms of cancer. The gene was discovered when researchers deleted the gene in mice, and found that the animals spontaneously developed, among others, cancers of the skin, lung and liver.

Over at Genetics & Health, Penny notes a new study that identifies the normal role of DISC1, a gene implicated in schizophrenia and bipolar disorder, while at The Biotech Weblog, Ruth links to an open access paper which shows that a variant of the chemokine receptor CXCR1 makes one susceptible to severe urinary tract infection. 

Future Pundit author Randall Parker has a short post about the recent finding that variations in an odorant receptor gene called OR7D4 determine whether we perceive the hormone androsterone in others’ body odour as smelling of urine or vanilla.

And at Med Journal Watch, Christian looks at a new paper about the link between diabetes, obesity and variants of the adiponectin gene, which “challeng[es] the value of weight loss to prevent diabetes”.

Personal genetics & medicine

Although personalized genomics is still in its infancy, there are already companies that are offering personal genetics sevices. One of these is 23 andMe, which is “developing new ways to help you make sense of your own genetic information.”

23andMe was co-founded by Anne Wojcicki, who is married to Google co-founder Sergey Brin. So as well as having a wealth of genetic information at our fingertips, we may also be able to use the web’s most powerful search engine to mine that information.

Blaine Bettinger (aka The Genetic Genealogist) discusses the recent partnership between 23andMe and Illumina. The results of the partnership are right up Blaine’s street: the two companies aim to provide individuals with information about their ancestry, genealogy and inherited traits. 

Blaine also gives us an interview with Dana Waring, one of the founders of Harvard University’s Personal Genetics Education Project – very useful if you’re still trying to make sense of personal genetics!

As Blaine points out, low-cost DNA sequencing is getting closer and closer, and some experts believe that it will be possible to sequence individual genomes for around $1,000 within 10 years. Sooner or later, therefore, ordinary people will have the choice of getting their genomes sequenced. 

This raises many ethical issues, such as who should have access to such information. If you knew that you carried a mutation that made you predispose to some disease, would you be happy if your insurance company knew about it? And, as Genomeboy asks, would you really want to know everything about your genome?

The Gene Sherpa, who will host the next edition of Gene Genie, is bemused that, in an age when we have patented genetic tests for so many disorders, important indicators of health such as cholesterol levels are still being ignored

In the second submission from Eye on DNA, Hsien-Hsien Lei asks what comes after genome sequencing? Her answer is systems biology, an emerging interdisciplinary field that combines computing with medicine to provide an understanding of the complex interactions in biological systems. In a similar vein, George Church ponders how we get from the Jimome and the Craigome to systems biology.

Berci, who started the Gene Genie carnival back in February, has collected some posts that document the major steps towards personalized medicine, and David Hamilton discusses how the internet is empowering patients by providing them with access to high quality information about health care and medicine.


Before DNA sequencing was commonplace, one assumption was that there must be a straightforward relationship between the complexity of an organism and the number of genes in its genome. Similarly, one might think that the larger an organism’s genome, the more genes it contains. Actually, both assumptions are wrong; at Genomicron, T. Ryan Gregory discusses the relationship between genome size and gene number.

At Gene Expression, p-ter provides links to freely available population genetics resources, and gives a basic introduction to how to use them.

And finally, here’s my contribution. It’s about a new study which shows that populations with a diet rich in starch have more copies of the salivary amylase gene than populations with a low-starch diet. The findings have implications for the evolution of the human brain.

That’s it for this edition of Gene Genie. The next one will be hosted by The Gene Sherpa on October 7th. If you’d like to contribute, you can use this submission form to send in your entries.


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