Gene Genie: The First Issue

467px-dna_repair.jpgIt’s always hard to start something new, mostly if you work in the medical blogosphere. Based on Timothy Erickson’s thoughts, I decided to start 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. Ladies and Gentlemen, let’s get ready to the genes (exactly 13 posts)…

Who must be the first? Of course, Timothy Erickson at Sciencesque. Tim uses the Random Word Generator to provide him with search terms. Then he decided to consider Online Mendelian Inheritance in Man (OMIM) database as a starting point. The first result was nine so he worked on Acromesomelic Dysplasia, Hunter-Thompson type, a.k.a. AMDH or Acromesomelic dwarfism, a rare autosomal recessive form of dwarfism. The gene’s name is GDF5, or Growth/Differentiation Factor 5. The images are incredible:


His second result was Act so he had to find papers, publications on Activator of Crem in the Testis. In that post, Tim describes male anatomy, sperm production, maturation and the Act gene’s possible role in male infertility.

Hsien Hsien Lei at Genetics and Health writes about dopamine- and cyclic AMP-regulated phosphoprotein (DARPP-32) that is associated with improved brain function and also increased risk of schizophrenia. She tells us an example about the link between higher intellectual capacity and schizophrenia (see Nobel Prize winner Dr. John Forbes Nash and A Beautiful Mind).

John F. Nash

Larry Moran (a Professor in the Department of Biochemistry at the University of Toronto) at Sandwalk has posted three interesting articles. The first is about gene HSPA5 that encodes a molecular chaperone, BiP. Chaperones are proteins that help other proteins to fold properly. He describes how the most important chaperone, HSP70 works and lists nearly every details of the gene itself. The second is about olfactory receptor genes. The human genome contains 388 different olfactory receptor (OR) genes, and even more pseudogenes. Read on to know more about olfactory receptor gene clusters or choose the third fantastic work on the evolution of gene families.


Let’s see the best gene-related articles of an exceptional scientific community, the The article, Genes Involved In Coffee Quality Identified showed that sucrose accumulation in coffee beans is controlled by the gene SUS2. Isoform SUS1, for its part, seems to be involved in sucrose breakdown and thus in energy production. And here are two major findings in genetics and genomics, Which Small And Large DNA Variants In Our Genome Matter? and Human Genome Breakthrough Reported.


Vahid Chaychi at explains how gene therapy can work with cancer and what kind of genes could be used for this process. DNA Direct features the Most Common Jewish Genetic Disease: Gaucher Disease.

At last, here are my posts made for Gene Genie (sorry for using my works, but in the first issue, it might be forgivable). I wrote about Pompe disease, a rare but important genetic condition and the frequent diagnostic delays. Then I said goodbye to Sonic Hedgehog, a gene with a weird and problematic name.


And if you’re not an expert in genetics or just would like to know more on the subject, then don’t miss this video:

In case you liked the first issue of Gene Genie, then submit your articles for the next issue taking place at Sciencesque two weeks later. And please help us with promoting this carnival. Thank you for watching…

Update: if you would like to host a Gene Genie, send me an e-mail.