Logo by Ricardo at My Biotech Life
Welcome to the 33rd edition of Gene Genie, the blog carnival devoted to genes and genetic diseases.
In this edition, there is a strong emphasis on cancer. There’s also a focus on leukodystrophy, and a special section on personalized genetics.
Spotlight on Leukodystrophy
The term leukodystrophy refers to a group of diseases characterized by progressive degeneration of the white matter in the brain. The conditions are normally inherited, and are associated with mutations in the genes encoding components of the myelin sheath.
Leukodystrophy came under the spotlight recently, following the death of Lorenzo Odone. 30-year-old Odone was the subject of the 1992 film Lorenzo’s Oil, which documented the efforts of his parents to find an effective treatment for his condition.
Chavonne Jones gives us a short film clip which provides more information about leukodystrophy, and last week, I wrote about experiments which show that shiverer mutant mice, which lack myelin and which usually die at around 5 months of age – can be rescued by transplantation of human glial progenitor cells.
At Adaptive Complexity, Michael has a comprehensive post about progress in the hunt for autism genes:
The genetics of autism…is not simple…since autism involves our most complex organ, the brain, in one of its most complex functions, social interaction. Untangling the genetic and environmental factors that underlie autism will be tough, but in the process we will learn more about how many different genes work together in a child to control the developing brain.
The Gene Sherpas consider Senator Ted Kennedy’s family history, and wonder if the Kennedys have a genetic disorder which predisposes them to cancer:
Ted Kennedy Junior had Osteosarcoma. His other son Patrick had a spinal tumor (I’d love to see the path on that). Ted Senior has a glioma…..likely GBM. In addition, his daughter had lung cancer at 43 (Was she a smoker?) and breast. So what this tells me is that the Kennedy family may have Li-Fraumeni or Li Fraumeni-like.”
Li-Fraumeni Syndrome occurs as a result of a mutation in the p53 tumour suppressor gene. As Elaine notes at Genetics and Health, researchers are working on p53 nanoparticles:
By wrapping tumor-suppressing genes in tiny balls of fat, Roth and colleagues hope to be able to treat more invasive cancers. While p53 nanoparticles are still in preclinical development, those that deliver another tumor-suppressor called FUS1 are in a phase I clinical trial for non-small cell lung cancer.
At Cancer and your genes, there’s a discussion of a new study which suggests that a common gene variant increases the risk for a type of stomach cancer:
Recently, a Japanese research group, “The Study Group of Millennium Genome Project for Cancer,” reported in Nature Genetics (abstract available here) the results of a new study demonstrating the involvement of the PSCA gene in risk for diffuse type gastric cancer.
The Spittoon reports on another gene variant which may be a strong predictive factor in breast cancer treatment and survival:
New research suggests that a gene associated with breast cancer can influence a woman’s chances of surviving the disease, particularly if she receives a drug treatment commonly given after surgery, according to a study published online Friday in Nature Genetics.
Walter discusses the development of a blood-based six-gene biomarker set for the detection of colorectal cancer:
At the annual meeting of the American Association for Cancer Research (AACR) last month, researchers from GeneNews Corp. reported that the probability of colorectal cancer (CRC) in asymptomatic patients can be accurately stratified by RNA expression profiling of six genes in whole blood . The company focuses on developing blood-based biomarker tests for the early detection of diseases and personalized health management.
In Red flags for hereditary cancer, Lisa Kessler emphasizes the importance of individualized genetic counseling:
A recent article in the New York Times about red flags for hereditary cancer went into detail about specific findings in families. About 5-10% of cancers are thought to be strongly hereditary; for people who worry about their genetic risk, and who have a family history consistent with a hereditary cancer syndrome, genetic counseling and genetic testing can be extremely useful for decisions about personal and family health.
Trevor has the abstract for a paper from the July issue of Cancer Letters, entitled Hypermethylation of the 5′CpG island of the FHT gene in clear cell carcinomas.
At the PredictER Blog, there’s a discussion about the Genetic Information Non-discrimination act:
…a much anticipated piece of legislation, nearly thirteen years in the making. Since the first version of the bill prohibiting genetic discrimination was introduced in Congress in 1995, the legislation has received significant bipartisan support and support from both the Clinton and Bush White Houses. Until recently, however, even in the face of all of that support, just a few members of Congress were able to block the legislation’s progress. An agreement has finally been reached, and GINA is now the law of the land.
There’s more on GINA at ThinkGene:
Health insurance is still modeled to pay for individual emergency medical interventions. The old idea is that these interventions are rare, but if needed, are both expensive and vital –too vital to ignore, yet too expensive for any individual to afford.
The new idea is that with genomics, is not just that disease can be prevented, but that humans can be improved. It’s not “just another treatment,” it’s a fundamental shift of what health is.
In Brain scanning vs personal genomics, Daniel defends personalized genetics companies against accusations that they cannot make reliable predictions about disease from peoples’ genome data:
In any case, the accuracy of predictions based on personal genomics starts to look much more impressive when it’s compared to some of the other ‘science-based’ prediction industries out there. A recent article in Wired has a fairly scathing review of one such field: the use of functional brain scans to predict risks of mental illness, personality traits, dishonesty, political views and consumer behaviour.
At BuzzYeah, Andrew Meyer describes a new personalized genetics service called 23andWe:
The concept behind 23andWe is pretty simple: They provide me with easy, fun questions in survey form and I get to see how my answers compare to the rest of the 23andMe community. At the same time, 23andMe is correlating my answers to my genetic data (which they think will lead to a new way of doing genetic research).
Chris is thinking about the possibility of personalized age prevention:
To what extent is aging, like cancer, an individual disease, whose idiosyncrasies in a given individual might be just as important as the features that are shared among individuals? In considering preventive measures and therapeutic corrections to age-related damage, how heavily will we need to weight individual genetic variation? Clearly, individuals age at different rates from one another, and tissues within individuals probably do too. How does this change the tactics one would bring to bear in designing a hypothetical anti-aging or life-extension pharmacopoeia?
The DNADiva comments on a new paper about genetic polymorphisms associated with methylphenidate:
…this study presents evidence that polymorphisms of this gene can lead to unexpectedly high levels of methylphenidate. This finding has particular importance in light of the FDA review of possible cardiovascular adverse effects of psychostimulants.
Sandra Porter gives us the low-down on restriction fragment length polymorphisms.
Larry Moran is dismayed by a case of genomics by press release.
Finally, dissatisfied with the lack of DNA testing in House M.D., Dr. Robinson has written his own episode, House ATG.GAC:
A patient arrives at Princeton-Plainsboro seeking House due to a mysterious set of symptoms which has afflicted her for years. As usual with such, House is disdainful — until the patient tries to hand him a DVD but dramatically collapses instead with some interesting symptom along the way. When the patient regains conciousness in a hospital bed, they start asking about the DVD again — and then deliver the trump card: the DVD has her genome sequence on it.
That’s it for this edition of Gene Genie. If you’d like to contribute to the next one, you can send your entries using this submission form. Past posts and future hosts can be found on the Gene Genie home page.