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The human eye can see roughly one million colors and this is due to our retinas consisting of three different types of photosensitive cells known as cones. While there are genetic mutations that cause color blindness, some scientists think about 1% of the population has an additional cone that causes them to see 100 times more colors than the average eye.
Its still hard to tell what these individuals see since our world is built around humans seeing with only three cones in our eye.
The solution to this could be with finding individuals with this mutation who are trained in the visual arts. If we understand genetic potential for tetrachromacy and how their perception differs, we can understand quite a lot about visual processing of color that we currently don’t understand. Her Cognition and Color Reading group has a video that explores how humans perceive color and how it can actually be a very individualized experience. Wolverine lives a mutant life, seeks revenge against Victor Creed (who will later become Sabretooth) for the death of his girlfriend, and ultimately ends up going through the mutant Weapon X program. New insights on the genetic drivers behind a rare type of fatal pediatric brain cancer may lead to the development of new patient-targeted treatments, a new study suggests. Each year about 30 children in Canada are diagnosed with diffuse intrinsic pontine glioma (DIPG), a pediatric cancer for which there is no effective treatment. As well, biopsies are rarely performed on the tumours, meaning researchers have faced challenges investigating the genetic landscape of DIPG. But in a new study from Toronto's Hospital for Sick Children, researchers have uncovered the genetic drivers of DIPG. The results from the study show that DIPG tumours are distinct from adult brain cancer, the study says. The team says additional research into DIPG is already underway, with researchers looking at the genetic mutation specific to each subgroup, as well as examining which targeted therapies may work. As a result, symptoms of DIPG can include double vision, difficulty controlling eye movement, facial expression and chewing or swallowing.
To date, radiation therapy has been the main treatment used on the tumours, as surgery is not an option and chemotherapy has shown no benefit. According to the DIPG Registry, fewer than 10 per cent of children with DIPG survive two years after diagnosis. On the second Tuesday of every month, about 20 researchers from a dozen or so cities around the world get on the horn to participate in a conference call that has been happening regularly for nearly a decade. Incidence of multiple sclerosis in the United Kingdom : findings from a population-based cohort. Pathway and network-based analysis of genome-wide association studies in multiple sclerosis.
Baranzini SE, Galwey NW, Wang J, Khankhanian P, Lindberg R, Pelletier D, Wu W, Uitdehaag B M, Kappos L, Consortium GMSA, et al.
Barcellos LF, Sawcer S, Ramsay PP, Baranzini SE, Thomson G, Briggs F, Cree BCA, Begovich AB, Villoslada P, Montalban X, et al. Gas6 increases myelination by oligodendrocytes and its deficiency delays recovery following cuprizone-induced demyelination. A LOVING family are settling into a perfect new home in Poole thanks to a real-life DIY SOS mission. But two companies stepped forward to save the day and now the Parkstone property has full disabled access, ready for when Harry gets his first wheelchair next month.
Dad Chris said: “G R Westbuild were ready to get in and start decorating for us but they walked in and pipes had burst in the loft.
It was ready two weeks later, and the family could move out of their cramped Turlin Moor home. Harry, two, and Cody have a room each, while all their specialist dressings and medical supplies are kept in a separate room. But little Cody, nine months, has been in and out of hospital lately, hasn’t been putting on weight and needs to be fed through a tube in his nose, which must be changed every four hours.
Epidermolysis Bullosa is a rare and painful disease that causes the Churchill boys’ skin to blister.
There was a one-in-four chance Cody would also have the condition – which normally affects one in 17,000 babies.
Both boys have lost their nails and are kept wrapped up to protect their skin, which is so delicate because of a missing protein.
Their airways and voicebox are affected, so they have tracheotomy tubes that can need cleaning up to 100 times a day. Newsquest Media (Southern) Ltd, Loudwater Mill, Station Road, High Wycombe, Buckinghamshire. This website and associated newspapers adhere to the Independent Press Standards Organisation's Editors' Code of Practice.
It even could be difficult for a tetrachromat to know if they have this heightened vision - think of it as being able to see color, but living in a world of black and white. For fans of the X-Men movies, the prequel X-Men Origins is due out May 1, 2009 – and good lord does it look awesome!!! Cynthia Hawkins, a neuropathologist and the study's principal investigator, said the discovery will have a significant impact on the development of DIPG treatment options.
Here we found different targetable genes in 20 to 80 per cent of the cases," she said. As the tumours grow, they cause a buildup of pressure on the cranial nerves in the pons region of the brainstem.
The tumour can also put pressure on other nerves that may cause weakness in the limbs, and difficulty speaking and walking.
The sun is just peeking over the Australian skyline when participants dial in from Melbourne and Sydney. If you have a complaint about the editorial content which relates to inaccuracy or intrusion, then please contact the editor here. Their colleagues in Boston and other cities across the United States reach for their office phones during more reasonable work hours, while those in Norway, Finland, and Sweden might already be wearing pajamas.
For the members of the International Multiple Sclerosis Genetics Consortium (IMSGC), the years of calls have held the group together, not just by keeping the far-flung collaborators informed of projects under way, but also by providing the means for would-be competitors to develop enough trust to share their hunches, their plans, and their data.  When the IMSGC formed, in 2002, the idea of competing labs pooling their resources—and of principal investigators forgoing primary authorship on research papers—was still novel. The malady clearly clustered in families; 15% to 20% of patients have a relative with the disease, and having a twin with MS confers a 30% risk of developing the illness.
The MHC family of genes, called the human leukocyte antigen (HLA) system in humans, encodes proteins on the cell surface that present antigens—typically, small chunks of foreign or a person’s own proteins—to T cells. Among other things, this process helps the immune system distinguish invaders from its own components. Researchers first correlated certain HLAs with MS in the early 1970s and, as genotyping technology evolved, traced the bulk of the disease-risk effect to specific alleles, or variants, of the genes, most significantly HLA DRB1*1501 (Barcellos et al., 1996). This locus accounted for a sizable chunk of the genetic, as opposed to the environmental, component of risk for the disease.

Unlike disorders such as cystic fibrosis or Huntington disease, which stem from glitches in a single gene, MS arises from a combination of genetic and environmental factors. Each of the multiple genes involved exerts a small influence on whether someone develops the disease, as do a variety of environmental factors.
Tracking this legion of modest effects required many more study subjects than scientists initially realized. A study published in August 2011, by far the biggest of its kind for MS, brought to 57 the number of spots on the human genome where variations were associated with increased risk of the disease. Since then, three more have been identified, and further follow-up work is poised to push the total number over 100 within the next year. Geneticists are still developing basic techniques for analyzing such studies; figuring out which gene corresponds to a variant is far from straightforward, and identifying the function of any novel gene can consume an entire career. By the 1990s, researchers were beginning to realize the limitations of going solo, and small-scale cooperative efforts were beginning to emerge, for example among researchers in Nordic countries or across Australia and New Zealand. Most gene-mining projects had deployed a technique called linkage analysis, in which researchers use well-defined sequences of DNA as markers to track how risk for MS is inherited within individual families.
Markers close to the genes or sequences that stir up the biological trouble would be passed down with the miscreant DNA, pointing researchers to short stretches of the genome in which the culprits lie. Linkage studies work well to identify mutations that play a large role in a disease. But in cases of complex inheritance, when many alleles contribute to disease risk, related family members are likely to have different assortments, making the relevance of each one harder to demonstrate statistically and rendering linkage studies ineffective. A different approach was needed: association studies, which fish out disease-associated variants by comparing markers among large numbers of affected and unaffected individuals instead of comparing inheritance patterns within families. So-called genome-wide association studies (GWAS) scan hundreds of thousands of points along the genome and identify alleles that are more common in those who have the disease compared to those who do not. In the late 1990s, Compston, at Cambridge, decided to get groups across Europe to pool their samples and expertise and to take the first serious stab at conducting an association study for MS. The collaborators called the effort GAMES (Genetic Analysis of Multiple Sclerosis in Europeans Consortium). A theoretical paper had suggested that a map of 6000 markers in 200 MS patients and 200 controls would provide sufficient statistical power (Barcellos et al., 1997). As knowledge about immunology exploded, showering the terrain with newly discovered molecules, he realized that he and his colleagues needed a scaffold for MS on which to hang these immune components.
He reached out to genomicist Eric Lander, then also at Harvard, to learn about complex genetics and genome sequencing. By 2002, those founders of the IMSGC who had already been involved with genetics consortia dedicated to MS began to discuss how they could again work together; Hafler also began to chat with Stephen Hauser of the University of California, San Francisco, about the idea of a new international consortium for MS.
At around this time, while at a conference in Copenhagen, Hafler and Compston continued those conversations with several colleagues including Haines and Margaret Pericak-Vance, now at the University of Miami in Florida.
They envisioned an ambitious goal: discovering all of the common genetic risk variants in MS. A Boston venture capitalist named Martha Crowninshield, who has a long-standing interest in MS and has remained closely involved with the IMSGC’s work, helped them refine the proposal and contributed the first $1 million.
She also hosted an event at which a handful of potential donors were invited to hear about the consortium’s plans from Hafler, Lander, and Joseph Martin, then the dean of Harvard Medical School. We started working on this problem in the early 1980s, and now it’s 30 years later.’” The initial crew members knew they would have to replace guarded competition with trust, so one of their first steps was to create a charter—appropriated and amended from the International Inflammatory Bowel Disease Genetics Consortium—that addressed issues such as authorship, seniority, sample and data sharing, bringing in new members, and settling disputes. This policy was meant to ensure that the boundaries between IMSGC projects and individual labs’ work were known to everyone in advance.
The founding members also agreed that the collaboration would stay small until time had proven that it could work.
First on the group’s agenda, then, was a linkage study to end all linkage studies—that is, a linkage study powerful enough to definitively determine whether the technique could identify genetic risk factors outside the MHC. The answer to the question, based on a study of 700 families, turned out to be a resounding “no” (Sawcer et al., 2005). The analysis once again pointed to the HLA DRB1*1501 allele in the MHC, and it identified no other signals anywhere near as strong, despite being many orders of magnitude more sensitive than previous MS linkage studies.  Meanwhile, the technology that powers genetic research was on the verge of a revolution.
In the 2000s, researchers were turning to single-nucleotide polymorphisms (SNPs)—single-base variations in the genome—which could serve as much denser, more accurate markers than those previously used. Initiatives sparked by the Human Genome Project, such as the SNP Consortium and the International HapMap Project, were identifying tens of thousands of SNPs common enough to be found in 1% to 5% of the population. This development meant that researchers could use a microchip that contained upward of 100,000 such SNPs to scan a person’s entire genome and assess which variants were more common in people with a specific disease.  With linkage a failure, the group was divided about how to proceed. Some members were eager to try GWAS in MS; however, the technique was costly and unproven, and others thought it more prudent to wait for the technology to mature.
Researchers linked its overactivity to the disease in a 2001 report of 15 patients with relapsing-remitting MS (Ramanathan et al., 2001), but subsequent studies of the gene were inconclusive. When IMSGC participants and others further investigated the gene, they found that the risk variant changes how it is spliced, which likely causes it to generate reduced amounts of the protein’s alpha chain in the membrane and increased amounts in the cytoplasm (Gregory et al., 2007). Because this portion of the protein must lie in the membrane for the receptor to work properly, the location change curbs its ability to do its job. Away from the membrane, it is no longer available to respond to a cytokine called IL-7, which normally helps certain lymphocytes survive and promotes development of B and T cells. Perhaps dampening T- and B-cell maturation could knock immune cell function off kilter and contribute to MS, researchers conjectured. Researchers took a long time to understand how many subjects were needed to render GWAS useful, Sawcer says, in large part because the number required depends on the relative number of SNPs and risk genes—and on how strongly the genes involved boost the likelihood of getting the disease.
Taking these issues into consideration, investigators have now calculated that a minimum of 2000 cases and as many controls are needed to achieve statistical significance, Sawcer says—about twice as many individuals as were included in the 2007 study.
Additional subjects would increase the study’s power even more. As other susceptibility loci—most of them with unknown roles in the body—began to trickle in through subsequent studies, the group began planning a GWAS with 10 times as many patients.
Several consortium members estimate that the IMSGC now comprises about 9 out of every 10 researchers working on MS genetics worldwide. Candidates must bring something new to the group—almost always patient samples, although in some cases, expertise. Going through written approvals and waiting for materials to be aliquotted, checked, and shipped from a home laboratory could easily add 6 months to an experiment. In contrast, the consortium repositories are geared to prep large numbers of samples for action as quickly as possible.  That setup helped the consortium to get moving on its latest GWAS, a $5 million to $6 million effort that included 9772 patients and 17,376 controls. It was conducted as part of the Wellcome Trust Case Control Consortium, a massive study of genetic variation in common diseases. The resulting report, published in August 2011, scanned about 600,000 SNPs—covering approximately 80% of the genome—and brought the total number of confirmed risk variants for MS to 57 (IMSGC et al., 2011). Because these features are present from before birth, he says, “the genetics are telling us about the earliest events in MS—events we were never really able to capture before.” An initial analysis, in which researchers looked for associations between the risk genes and other aspects of the disease, such as its type and severity, suggested that these genes might play a role in whether a person gets the disease, but not in the disease’s course. If that’s the case, the genes might not prove to be good targets for new therapies, says Jan Hillert, a neurologist at the Karolinska Institute in Stockholm, Sweden, who started the Nordic MS genetics consortium in 1994 and joined the IMSGC about 4 years ago.
The vast majority of genes identified in the study have immune functions, De Jager says, strongly supporting the latter explanation. Sergio Baranzini, an MS geneticist at the University of California, San Francisco, points out that tremendous overlap exists between genes that operate in different physiological processes, and that the so-called immune genes could also function in the nervous system.

Many of the genes with the strongest association to MS, including HLA DRB1*1501, appear to be regulated by vitamin D, says MS geneticist George Ebers of Oxford University in the U.K.
Because vitamin D levels strongly depend on sunlight, the observation fits with epidemiological studies showing that lack of sun exposure is an important risk factor for the disease. A study published in December 2011, which identified three more variants in addition to the 57 found in the latest GWAS, also compared risk genes for MS with those for ulcerative colitis, diabetes, psoriasis, and other autoimmune diseases. It found that a sizable minority of risk genes shared with celiac disease and other conditions have an opposite effect—protective rather than injurious—to that in MS (Patsopoulos et al., 2011).
But researchers are slowly starting to tie the known MS risk genes to biological processes that could affect disease onset (see "Altered Immunity, Crippled Neurons"). Kilpatrick’s group is studying a family of proteins known as the TAM receptors, one of which—MERTK—is associated with MS. At least one plasma-borne TAM receptor ligand shows initial promise as a biomarker of disease, Kilpatrick said during a presentation at the November 2011 Society for Neuroscience meeting in Washington, D.C. Such studies are beginning to show how some genes might be involved in MS, but they so far provide only the barest hints of mechanism. Understanding the functions of genes uncovered by GWAS starts with mapping the precise location of the SNPs that identify a risk variant. Some SNPs lie in the protein-coding section of the gene, making it likely, researchers say, that the genetic spelling variations correspond to codon differences. But the vast majority of SNPs reside in difficult-to-interpret areas, either in introns—stretches within a gene that can influence which versions of it are transcribed—or in even murkier regions between genes. Furthermore, a variant on one part of the genome can control a gene on a completely different chromosome.
Often, the matchup between SNP and gene is a best guess, made by choosing the closest known gene.
Sometimes the gene can be identified by a process called fine-mapping, in which researchers use an increasing number of markers to home in on sequences in nearby regions, “but a lot of these areas just won’t break down with fine-mapping,” Kilpatrick says.
His group identified one risk locus on chromosome 12 that could have been tied to any one of 17 genes.
Researchers ascribed it to a gene called CYP27B1, which is involved in converting vitamin D to its active form, simply because that made the most sense, he says, but that is a so-called biased approach. Progress might not be linear, however; some argue that it will come only when a critical mass of risk variants is identified. But with 50 or 100 SNPs associated with the disease, “we can start mapping to hopefully coherent pathways.” Uncovering missing heritabilityEach gene identified by the IMSGC represents a minuscule portion of the disease’s heritability, at least in the simplest analysis.
Researchers use a measure called an odds ratio to describe the size of an effect; the greater than 1 it is, the greater the likelihood that the SNP or gene in question is associated with the disease. Researchers say that the 60 genes outside the MHC together explain only a small percentage of MS’s heritability, significantly less than that explained by the MHC. IMSGC scientists posit that even with small effect sizes, genes could reveal pathways that play a central role in the disease. But, he adds, “if I was spending this amount of time and money on this and I came up with genes that explain [so little] of the risk, I’d be disappointed.” Part of the problem might lie in the assumptions underlying the interpretation of GWAS data. Risk alleles are generally treated additively in statistical analyses, simply because this is the easiest way to model the enormous amounts of data that GWAS produce. The method, however, does not incorporate the possibility that genes’ activities could combine in more complicated ways. In May 2011, Michael Demetriou, an immunologist at the University of California, Irvine, identified a connection between MS and disruption of a process called N-glycosylation, which attaches complex sugars to proteins and can modify their function (Mkhikian et al., 2011). The IL2RA, IL7RA, and MGAT1 risk alleles—but not those associated with other genes—disrupt N-glycosylation and cause symptoms characteristic of MS in mice. When the three are present together, however, MGAT1 negates the deleterious effects of the other two.
Vitamin D delivers the same mitigating effect, revealing a complex interplay of genetic and environmental factors. A paper published in January by Lander’s group at the Broad Institute in Cambridge, Massachusetts, suggests that this idea might be generally true for illnesses associated with relatively common gene variants, but identifying such interactions might require enormous studies of hundreds of thousands of patients (Zuk et al., 2012). So far, however, no clear method exists for systematically detecting how risk variants enhance or slash one another’s effects, he adds.
Results to date suggest that common variants do appear to behave additively, De Jager says, “but the problem is that the studies are underpowered to detect” synergistic interactions that might be present.
Gene interactions might be particularly relevant in specific subsets of patients, he says, but currently no meaningful approach parses out such groups.
Hillert’s lab is working on a database that will tie information about individuals’ disease course and relevant environmental factors—whether they smoked or were infected with Epstein-Barr virus (EBV), for example—to their genotype in order to begin systematically searching for such interactions (see "Viral Villain"). Researchers within and outside the IMSGC propose several other possibilities for where the missing heritability might lie. First, with GWAS to date covering only about 80% of the genome, additional common risk variants might lie in areas with poor SNP coverage. Additionally, Baranzini notes, risk alleles might be distributed along key pathways that are misregulated in the disease.
For example, a particular SNP associated with the disease might be found in, say, 20% of the population.
But another SNP, present in another 20% of the population, might participate in the same physiological process as the first one. Uniting all of these small effects under the umbrella of a single pathway might flush out more of the missing heritability. Another avenue of exploration is rare variants that occur sporadically in certain families but are uncommon in MS patients in general. Such variants can’t easily be found with GWAS; rather, their identification requires whole-genome sequencing or at least sequencing of the coding region of the genome and comparing the results among affected and unaffected family members.
Techniques to carry out such experiments are becoming available, and Baranzini and his colleagues have sequenced DNA from 12 individuals in one family: siblings, cousins, and an aunt, of whom six have the disease and six do not. A handful of reports have suggested that the risk of developing MS differs depending on whether individuals inherit a particular allele from their father or their mother. Such a pattern would arise if the chromosomal regions harboring these genes are “imprinted,” carrying epigenetic marks that turn genes on and off.            Meanwhile, IMSGC researchers are focusing on the identified risk alleles to determine whether they can somehow be used to predict the chances that an individual will get MS—not in the general population, but in people who have a close relative with it or who have experienced an isolated neurological episode or have MS-like lesions. De Jager’s group is developing an algorithm that uses genetic and environmental information to stratify such people based on their risk. The researchers are now conducting a study to determine which, if any, of these factors correlate with asymptomatic disease, as captured by MRI. With the identification of the common risk variants for the disease close to its logical conclusion, researchers are now well positioned to transform current knowledge into a springboard for the next stage of research. Despite the complexity and the caveats, IMSGC researchers say, the investment so far has been well worth it.
How much do they uncover novel disease mechanisms?What can genes that are associated with other autoimmune disorders contribute to researchers’ understanding of MS?Are any genetic markers associated with subpopulations of patients (according to disease type or lifestyle factors, for instance) or disease factors such as viral status or response to specific therapies?

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