The best genetics of the week and a medstudent who loves vagina April 22, 2007

Here are the best genetic and clinical genetic blogposts and news of the week with a superb animation about stem cells. Let’s start with two major findings, two hopes for two serious genetic conditions.

• DNA repair as key to Huntington’s disease

Mayo Clinic researchers, along with collaborators from the National Institutes of Health (NIH) and University of Oslo, Norway, have discovered that a miscue of the body’s genetic repair system may cause Huntington’s disease, a fatal condition that affects 30,000 Americans annually by destroying their nervous system.

• Restoration of muscle function in muscular dystrophy

Using a new type of drug that targets a specific genetic defect, researchers at the University of Pennsylvania School of Medicine, along with colleagues at PTC Therapeutics Inc. and the University of Massachusetts Medical School, have for the first time demonstrated restoration of muscle function in a mouse model of Duchenne’s muscular dystrophy (DMD).

I really believe that these will soon lead to possible therapeutic methods. To restore muscle function of a DMD or BMD (Becker’s muscular dystrophy) patient or to predict the first symptoms of Huntington disease would be miraculous.

• Macaque Genome Analysis Will Help Find Human Disease Genes

Researchers looking for a disease-causing gene don’t usually find the exact DNA sequence of the gene right away. Instead, they first determine that the gene is somewhere between two easily recognized sequences called markers and zero in from there. In Indian macaques, Hernandez says, those markers can be farther apart, making the search easier. From there, he suggests, the search could be continued with Chinese macaques, using markers closer together. It is often easier to track a gene in a controlled population of laboratory monkeys than in humans, but since the two genomes are so similar, once it is found in the macaque it can usually be located in humans.

• I love vaginas!

Today’s obs and gynae OSCE went really well, much better than yesterday’s disaster so I’m happier now and hopefully more confident. Again it was a very fair exam but this time I feel I just about did myself justice.

Don’t miss the post above created by a 4th year medical student (just like me) !

More stem cell-related animations at Biosingularity.