For those of you asking about Rubber Boy...

Here is some science behind the disease, Osteogenesis imperfecta. OI manifests in a number of symptoms including weak bones, multiple fractures, bowed limbs, short stature, deafness, and short lifespan. An article last week in Molecular Therapy describes the genetic basis of OI - dominant mutations in the type I collagen genes - and a new attempt at treatment through gene therapy.

Or for a more dramatic portrayal of the disease, see Bruce Willis in 'Unbreakable'.

The pursuit of susceptibility genes for Alzheimer's disease: progress and prospects

Because of technological advances, GWAS have begun to make progress in AD genetics. A small proportion of AD patients have an autosomal dominant pattern of inheritance, and genetic studies of these patients can potentially help with patient care. Four genes, APOE, CLU, PICALM, and CR1 have been found to be involved in AD susceptibility. These genes play a role in the pathophysiology of AD, and their discovery "supports ongoing efforts towards intervention in these pathways."

ICHG/ASHG 2011: New research on genetic factors associated with autism, schizophrenia and Parkinson's

The article discussed a recent gathering of scientists in Montreal for the 12th International Congress of Human Genetics (ICHG). The focus of the gathering was to present research on certain diseases and disorders--mostly mental issues--based on genetic research. Although the researchers did not understand the genetic basis for the diseases completely, the researchers were able to get some answers out of their research and were able to make sense of some very complex things. I'm sure that the next conference will have advanced the understanding even more since the research provided great insight into understanding autism, schizophrenia, intellectual disability, epilepsy and Parkinson's diseases. A brief summary of each of the researchers findings can be found at the bottom of the article.

Genetics of Multiple Sclerosis

29 new gene variants have been identified as associated with Multiple Sclerosis, many of which are related to the immune system. This will aid in shedding light on the immuno-pathogenesis associated with the development of the disease.

Genetic basis of Lupus

This Nature article found a genetic basis for systemic lupus erythematosus.  Using whole genome methylation analysis, it found hypomethylation on the IL10 and IL1R2 promoters was associated with gene  activity, resulting in misregulated activity of T and B-cells.  It also mentions several genes on the HLA region that carry risk factors for the lupus.

Are test-tube babies at an increased risk for imprinting disorders?

Assisted Reproductive Technologies (ART) use has increased exponentially since the first successful report came in 1978. However, it has been suggested that these methods put the babies at higher risk for genomic imprinting disorders. Specifically, Angelman's syndrome and Beckwith-Wiedemann syndrome (imprinting disorder on Ch11)have been the most studied. While these and other imprinting disorders have been shown in some studies to be more prevalent among ART kiddos, in the way of science others have failed to show such results. Global hypomethylation of maternal alleles leads credence to this idea, but small sample sizes and an inability to control for confounding variables muddles up the picture. Ah, we say it again: more science is needed to further elucidate what's really going on. In any case, this brings another moral question to the table. How does everyone feel about ART (from a medical vs. an evolutionary perspective)?

Researchers discover genes involved in colorectal cancer

This study published today in Nature Genetics details the investigation of multiple networks of genes involved in driving colorectal cancer. Researchers profiled a vast number of genes related to the disease using the "Sleeping Beauty transposon system." Since APC mutations are widely believed to play a role in initiating colorectal cancer in humans, Sleeping Beauty was used to perform insertional mutagenesis in mice with Apc mutations. By identifying common insertion sites of Sleeping Beauty from a total of 446 excised tumors, hundreds of genes and 38 genetic networks were implicated as candidates for driving tumorigenesis.