genetics

A new study has mapped the risk factors behind the autoimmune disease SLE in the entire human genome. The findings of the study, in which researchers from Uppsala University took part, are being presented in the Web edition of The New England Review of Medicine.

The study charts which of the human being’s some 20,000 are the strongest risk factors for SLE (systemic lupus erythematosus). The analysis was performed with half a million genetic markers, so-called SNP markers, that are evenly distributed across the whole genome. Two research teams from Uppsala University, Ann-Christine Syvänen’s and Lars Rönnblom’s groups at the Department of Medical Sciences, were part of the group behind the study, which was led by scientists from the U.S. The study included 800 Swedish SLE patients from rheumatology clinics at Akademiska Hospital in Uppsala, Karolinska Hospital in Stockholm, and the university hospitals in Umeå and Lund.

“The study is especially interesting since SLE is seen as a model disease for autoimmune disorders, where the body’s immune defense attacks the patient’s own tissue,” says Lars Rönnblom, professor of rheumatology.

In SLE most body organs can be damaged by the autoimmune process. From studies of twins we know that SLE has strong genetic connections where the interaction with environmental factors can lead to the genesis of the disease. With the findings of this new study, researchers can now move on to functional and clinical analyses. Functional analyses can figure out the molecular mechanisms in SLE, which ultimately can lead to better drugs for the disease.

“Since SLE is characterized by many different pathological symptoms, these genetic findings can also lead to genetic tests in the future to make it possible to classify the disease in each individual more exactly, thereby providing support for treatment decisions,” says Ann-Christine Syvänen, professor of molecular medicine.

The new study identifies two previously unknown genes, BLK and ITGAM, with functions in the immune system’s cells, as risk factors for SLE. Moreover, the study identifies two previously known genes from the interferon system, IRF5 and STAT4, and the well-known HLA system as the three strongest risk factors for SLE. These same Uppsala scientists originally identified the IRF5 gene as a risk factor, in 2005.

The genetic analyses of the Swedish patients were done at the SNP genotyping laboratory at Akademiska University Hospital in Uppsala. It became possible only in 2007 to perform genetic analyses on a scale comprising the entire genome, thanks to extremely rapid technological development.

“The advantage of genetic studies across the entire genome is that they unconditionally lead to the identification of all the genes that contribute to the genetic risk for SLE,” says Ann-Christine Syvänen.

UPPSALA UNIVERSITET
P.O. Box 256
SE-751 05 Uppsala
http://www.uu.se

An upcoming paper from Drs. Hidenori Ichijo and Hideki Nishitoh (The University of Tokyo) and colleagues lends new and valuable insight into the genetics of ALS.

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a rapidly progressive, fatal neurological disease involving the degeneration and death of motor neuron cells.

ALS is one of the most common neuromuscular diseases worldwide, affecting as roughly 25,000 Americans, with an estimated 5,000 new diagnoses each year. The life expectancy of ALS patients is usually 3 to 5 years after diagnosis.

5-10 percent of all ALS cases are inherited. About 20% of these familial ALS cases are the result of an inherited genetic mutation on chromosome 21, in the gene encoding for the superoxide dismutase 1 (SOD1) enzyme. SOD1 is an antioxidant that protects the body from DNA damage caused by the accumulation of free radicals within cells. However, several reports have demonstrated that mutated SOD1 toxicity is not due to decreased antioxidant activity, but rather to a ‘gain of unknown toxic function’.

In their upcoming paper, Dr. Ichijo and colleagues delineate how mutations in SOD1 lead to motor neuron cell death and the progression of ALS. The researchers characterized a molecular pathway by which mutated SOD1 contributes to the accumulation of malformed proteins inside the endoplasmic reticulum (ER) compartment of motor neuron cells. Beyond a certain threshold, this ER stress induces cell death.

Interestingly, Dr. Ichijo’s team found that the inactivation of certain key factors in this pathway could mitigate neurodegeneration and prolong survival in a mouse model of inherited ALS.

Although not all familial ALS cases are due to the SOD1 mutation (and not all persons with a mutated form of SOD1 develop ALS), further insight into mechanism of the disease will undoubtedly aid in the development of an effective treatment for ALS.

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Article adapted by Medical News Today from original press release.
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Source: Heather Cosel-Pieper
Cold Spring Harbor Laboratory

Interleukin Genetics, Inc. (AMEX:ILI), announced that Dr. Kenneth Kornman, Chief Scientific Officer, will present at the 13th International Conference on Periodontal Research (ICPR) on June 6, 2008 in Ljubljana, Slovenia on the genetic and environmental factors that control inflammation differences among individuals. The ICPR meeting has been held approximately every three years since 1969 to bring together the world’s leaders in periodontal research to reassess the current knowledge in the field and to identify new research direction, to improve the diagnosis, prevention, and treatment of periodontal diseases.

Periodontitis is a bacterially-induced chronic inflammatory disease that causes destruction of bone and other tissues that support the teeth. Severe periodontitis, that usually leads to loss of multiple teeth, is found in approximately 8-13 percent of the adult population. The presence and severity of periodontitis have been associated with an increased risk for other important inflammatory conditions, including pre-term births, cardiovascular disease, rheumatoid arthritis, and certain cancers.

Who: Dr. Kenneth Kornman, Chief Scientific Officer of Interleukin Genetics

Where: 13th International Conference on Periodontal Research (ICPR) in Ljubljana, Slovenia

When: Friday, June 6, 2008 at 9:45-10:30 GMT

What: Approximately 30-60 percent of the severity of periodontal disease is determined by genetics. Interleukin Genetics developed and markets the PST® genetic test to help identify individuals at increased risk for severe periodontal disease and complications from dental implants. This test helps dentists guide the management of their patients’ periodontal disease to avoid complications of severe periodontitis.

About Interleukin Genetics

Interleukin Genetics, Inc. (AMEX:ILI) is a genetics-focused personalized health company that develops preventive consumer products and genetic tests for sale to the emerging personalized health market. Focused on the future of health and medicine, Interleukin uses its leading genetics research and scientific capabilities to develop and test innovative preventive and therapeutic products. Interleukin is headquartered in Waltham, MA. For more information about Interleukin, its products and ongoing programs, please visit http://www.ilgenetics.com.

Certain statements contained herein are “forward-looking” statements including statements regarding our ability to develop diagnostic, personalized nutritional and therapeutic products to prevent or treat diseases of inflammation and other genetic variations, our ability to screen nutritional compounds for their effects on inflammatory responses and other genetic variations, given specific genetic patterns and our ability to make progress in advancing our core technologies. Because such statements include risks and uncertainties, actual results may differ materially from those expressed or implied by such forward-looking statements. Factors that could cause actual results to differ materially from those expressed or implied by such forward-looking statements include, but are not limited to, the risk of market acceptance of our products, the risk of technology and product obsolescence, delays in product development, the performance of our commercial partners, the availability of adequate capital, the actions of our competitors and other competitive risks, and those risks and uncertainties described in our annual reports on Form 10-K, our quarterly reports on Form 10-Q and other documents we file with, or furnish to, the Securities and Exchange Commission. We disclaim any obligation or intention to update these forward-looking statements.

Interleukin Genetics

A new model has been proposed to explain the evolutionary origin and maintenance of male homosexuality in human populations in the context of Darwinian Evolution by invoking the idea of sexually antagonistic selection. This was proposed in an article released on June 17, 2008 in the open access journal PLoS ONE.

Homosexuality in males is widely considered to be influenced by factors that are both psychosocial and genetic. The latter is suggested by a few items. Namely, the high correlation of sexual orientation in identical twins points to a genetic component. Additionally, there is a higher frequency of homosexuality in males who belong to a maternal line of male homosexuals. These same effects have not, however, been shown for female homosexuality — so these two phenomena very likely have different origins and dynamics.

This report, written by an Italian research team made up of Andrea Camperio Ciani and Giovanni Zanzotto at the University of Padova and Paolo Cermelli at the University of Torino, explores a number of different hypotheses for the potential genetic basis of male homosexuality. These included: the genetic maternal effect on sons; the heterozygote advantage, such as in malarial resistance, in which hybrids for a trait have desirable traits; and sexually antagonistic selection.

Under Darwinian evolutionary models, genes that are passed on to offspring are preserved or amplified in the population while those that do not decrease in frequency. Generally, homosexual males reproduce less than heterosexual males, so a genetic basis for male homosexuality is difficult to explain. However, work published in 2004 by Camperio Ciani and collaborators indicated that females in the maternal line of male homosexuals were more fertile than other women.

This led the team to consider sexually antagonistic selection to provide an explanation. In this type of selection, a reproductive advantage is experienced by one sex while a reproductive disadvantage occurs in the other sex. Previously, this sort of evolution has been documented in insects, birds, and some mammals, but it has never been seen in humans.

A large set of models were examined by the researchers and excluded individually if they implied that alleles would go extinct too easily or overtake the population. The paper concluded that the only model that fit the empirical data was based on sexually antagonistic selection, based in particular on two genes, at least one of which must be on the X chromosome, which determines the maternal genes in male babies. This model implies that there is an interaction between male homosexuality and increased female fertility. This complex dynamic results in the maintenance of male homosexuality at a stable but low frequency, as well as a hereditary effect on male homosexuality through the female line.

This model could potentially change the focus of opinions on male homosexuality. For instance, perhaps homosexuality should not be seen as a trait that is detrimental to a population because of the reduced male reproduction it implies, but rather in context of providing gender specific benefits by promoting female fertility. This could be an explanation for the evolutionary origin of this genetic trait in humans.

Sexually antagonistic characteristics are only just being widely recognized in the human population. It is understood as one of the key mechanisms by which higher levels of genetic variation can be maintained in populations. This could be the first example of many potentially sexually antagonistic traits to be found in humans. This in particular could help create better understanding of the many genetically based sexual conflicts in humans, most of which are as of yet unexplained.

Notably, if the genetic mechanism behind male homosexuality is as described in this model, there are interesting implications on the overall fertility of a population. That is, the proportion of male homosexuals in a population could signal a corresponding proportion of females with higher fecundity — this along could account for a positive net increase in the fertility of a whole population when compared to populations without such a system. This increase will become higher as the population baseline fertility decreases, meaning that these genes could provide a buffering effect on factors that would otherwise lower the overall fertility of a population.

In one of the first studies to link molecular genetic variants to adolescent delinquency, sociological research published in the August issue of the American Sociological Review identifies three genetic predictors - of serious and violent delinquency - that gain predictive precision when considered together with social influences, such as family, friends and school processes.

Sociologists from the University of North Carolina-Chapel Hill explored the interaction of genetics and social influences and identified three genetic polymorphisms that - when examined in the context of modulating social controls - are significant predictors of delinquency. These findings about gene-environment interactions suggest that certain genotypes and specific social control influences (e.g., family characteristics and processes; popularity and friendship characteristics; and school attendance factors) are mutually dependent on delinquency.

While many behavioral studies of gene-environment interactions typically examine the relationship of a single factor (e.g., child abuse, stress) to genes, the present research is unique in that it systematically examines layers of social context simultaneously (i.e., family dynamics, peer relations, and school-related variables). The study uses regression analysis to reveal non-intuitive and complex relations among the researched variables.

“While genetics appear to influence delinquency, social influences such as family, friends and school seem to impact the expression of certain genetic variants,” said Guang Guo, the study’s lead author and a professor of sociology and faculty fellow at the University of North Carolina-Chapel Hill’s Carolina Population Center and Carolina Center for Genomic Sciences. “Positive social influences appear to reduce the delinquency-increasing effect of a genetic variant, whereas the effect of these genetic variants is amplified in the absence of social controls.”

“Our research confirms that genetic effects are not deterministic,” Guo said. “Gene expression may depend heavily on the environment.”

The three genetic polymorphisms that predict delinquency include: (1) the 30-base pair (bp) promoter-region with a variable number tandem repeat (VNTR) in the monoamine oxidase A (MAOA) gene, (2) the 40-bp VNTR in the dopamine transporter 1 (DAT1) gene and (3) the Taq1 polymorphism in the dopamine D2 receptor (DRD2) gene. MAOA regulates several brain neurotransmitters important in behavioral motivation, aggression, emotion and cognition (e.g., serotonin, dopamine, norepinephrine).

Among the findings, the research suggests a conditional interaction between repeating a school grade and the MAOA*2 repeat (2R) allele in adolescent boys. For those who did not have the 2R allele, repeating a grade was significantly correlated with serious delinquency, but for those who had this 2R allele and who repeated a grade, the propensity for serious delinquency increased dramatically.

The study also indicates a link between the DRD2 gene and having daily family meals. Daily meals with one or two parents are a powerful moderator for the effect of the DRD2 gene.

“Most delinquent and violent behaviors are considered complex,” Guo said. “Understanding these behaviors requires understanding both their socioeconomic-cultural components and their genetic components.”

The correlation of social and genetic effects on delinquency suggests the need for the social sciences to incorporate genetic evidence in this area of study, according to Guo. The implications of these findings also raise important questions for public policy.

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Article adapted by Medical News Today from original press release.
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For this study, the researchers examined a sample of approximately 1,100 males in grades 7 through 12 whose DNA and social-control measures were available through the National Longitudinal Study of Adolescent Health. Guo co-authored the research with Michael E. Roettger and Tianji Cai, both doctoral candidates at the University of North Carolina-Chapel Hill. The research was supported in part by grants from the National Institutes of Health and the National Science Foundation.

Guo’s work on genetics and delinquency has also been published in Human Genetics and has been accepted for publication in the European Journal of Human Genetics.

About the American Sociological Association

The American Sociological Association (http://www.asanet.org/), founded in 1905, is a non-profit membership association dedicated to serving sociologists in their work, advancing sociology as a science and profession, and promoting the contributions to and use of sociology by society.

Source: Jackie Cooper
American Sociological Association

Here is a good resource for finding nursing jobs online that I thought I’d quickly share for my fellow student nurses.

Dr. Kim Lewis, Professor of Biology and Director of the Antimicrobial Center at Northeastern University, has been awarded a $1.4 million grant from the National Institutes of Health (NIH) to examine the genetics of multidrug tolerance in bacteria. This four-year grant will allow Lewis, who recently received a grant from the Bill & Melinda Gates Foundation to study the latency of tuberculosis, to continue his research on the formation of dormant persister bacterial cells, which are tolerant to all known antibiotics and make many infections incurable. By using a genomics approach, the team hopes to identify the genes responsible for the formation and maintenance of these persister cells and to develop a therapy to destroy them.

The first component of this research project is to produce mutants with the capacity to produce a large number of dormant persister cells. To do this, the researchers will work with two bacteria, E. coli and Y. pestis, to produce high persistence (hip) mutants with the ability to produce large amounts of persister cells. The next phase will be done in collaboration with James Galagan, Ph.D., an Associate Director at the Broad Institute of MIT and Harvard and a co-investigator for this grant, where they will sequence the genomes of 100 hip mutants to identify the mutations, which will help decipher the mechanism responsible for antibiotic tolerance.

“The goal of this research project is to identify the mechanism behind the phenomenon of resistant bacteria,” said Lewis. “We know that pathogens produce dormant persister cells, which then resist antibiotics, but we need to know how it happens in order to develop effective treatments against these dormant cells.”

Because persister cells are thought to be responsible for chronic diseases, such as tuberculosis, Dr. Lewis’ work on identifying the origin of persister cells is an important contribution to this critical field of research.

According to the NIH review panel that evaluated the proposal, “The study has the potential to provide viable clinical strategies to manage infections in which persister cells are the main driver of suboptimal response to antibiotic treatment and consequently revolutionize antibiotic targeting and therapy.”

About the Antimicrobial Discovery Center

The mission of the Antimicrobial Discovery Center, founded in 2006, is to translate basic science discoveries into novel antimicrobial therapies to combat Biowarfare and conventional pathogen threats. Antimicrobial drug discovery is in a state of crisis. The last class of broad-spectrum compounds, the fluoroquinolones, was discovered 40 years ago. The rise of multidrug resistant pathogens and the threat of genetically engineered bioweapons represent an urgent need for novel antimicrobial therapies. The Center, funded by grants from the NIH, NSF, and DOE, is directed by Kim Lewis and draws faculty members from Biology, Chemistry, Physics, and Pharmaceutical Sciences.

About Northeastern University

Founded in 1898, Northeastern University is a private research university located in the heart of Boston. Northeastern is a leader in interdisciplinary research, urban engagement, and the integration of classroom learning with real-world experience. The university’s distinctive cooperative education program, where students alternate semesters of full-time study with semesters of paid work in fields relevant to their professional interests and major, is one of the largest and most innovative in the world. The University offers a comprehensive range of undergraduate and graduate programs leading to degrees through the doctorate in six undergraduate colleges, eight graduate schools, and two part-time divisions.

Northeastern University

Quest Diagnostics Incorporated (NYSE: DGX), the nation’s leading provider of diagnostic testing, information and services, today announced a new, proprietary diagnostic testing technique to help physicians diagnose genetic metabolic disorders, such as phenylketonuria (PKU) and homocystinuria. Genetic metabolic disorders can impair a child’s mental and physical development. The new technique measures amino acids in blood plasma, urine or cerebral spinal fluid by employing a combination of liquid chromatography and mass spectrometry.

Physicians may also use amino acid quantitation tests on individuals whose ability to process nutrients may be impaired, such as those undergoing chemotherapy treatments for cancer, the elderly, and individuals with gastrointestinal illnesses.

The new technique is an advance over conventional test methods, providing greater diagnostic sensitivity and specificity for detecting a range of metabolic and nutritional disorders. The technique can be used to measure and report up to 47 individual amino acids, depending on the condition to be tested and type of specimen. The new testing method also overcomes the problem of interference from medications and diet, which, when using conventional testing methods, often hinders accurate analysis. In addition, the new methodology can detect amino acid levels as low as one micromole per liter, which enhances its usefulness for detecting nutritional deficiencies compared to conventional methods.

“We believe this new testing technique will improve nutritional monitoring and enhance the detection of several inherited metabolic disorders that can impair a child’s mental and physical development,” said Joyce Schwartz, M.D., vice president and chief laboratory officer. “We also expect improved turnaround times to enhance diagnosis and treatment.”

Researchers at Quest Diagnostics Nichols Institute, the company’s esoteric diagnostic testing, research and development center, developed the new methodology. The company recently began to market the technique to hospital physicians with an emphasis on pediatric, neonatology, genetic, oncology and gastroenterology practices.

Quest Diagnostics has established normal ranges by age and sample type, enabling clinicians to evaluate individuals at all ages for a range of nutritional deficiencies and for a number of inborn errors of metabolism.

About Quest Diagnostics

Quest Diagnostics is the leading provider of diagnostic testing, information and services that patients and doctors need to make better healthcare decisions. The company offers the broadest access to diagnostic testing services through its national network of laboratories and patient service centers, and provides interpretive consultation through its extensive medical and scientific staff. Quest Diagnostics is a pioneer in developing innovative new diagnostic tests and advanced healthcare information technology solutions that help improve patient care. Additional company information is available at http://www.questdiagnostics.com.

This communication contains certain forward-looking statements. These forward-looking statements, which may include, but are not limited to, statements concerning the proposed acquisition, are based on management’s current expectations and estimates and involve risks and uncertainties that could cause actual results or outcomes to differ materially from those contemplated by the forward-looking statements. Certain of these risks and uncertainties may include, but are not limited to the risks and uncertainties described in the Quest Diagnostics Incorporated 2006 Form 10-K and subsequent filings.

Quest Diagnostics Incorporated
http://www.questdiagnostics.com

“Every man could have his risk of developing prostate cancer determined with a new screening test within four years,” said The Daily Telegraph. The newspaper went on to add that researchers have found seven genetic variations that increase a man’s risk of developing prostate cancer by 60%. Although the variations are common individually, it was reported that having a combination of them significantly increases risk.

The report said that the researchers are now going to produce a test based on these genetic variations, so that men with the highest level of risk can be offered regular prostate screening.

Numerous news sources covered this well-conducted genetic study. Although the genetic variants that were identified may not themselves cause prostate cancer, they may be useful as part of a screening programme. However, as with all proposals that offer services to healthy people, more research is needed to show that such a screening programme will not only reduce mortality, but will also be simple to deliver, convenient for patients and will not cause harm, such as incorrect diagnosis.

The newspapers give differing information about the increased risk of prostate cancer if a man had all or some of these variants. For most of the variants identified, having two copies of a risk variant increased the risk of prostate cancer by between 19% and 61%, while having two copies of the least common variant doubled risk of prostate cancer. The study reported the increase in risk for each variant individually, and did not calculate the overall risk if a person had a combination of the risk variants.

Where did the story come from?

Dr Rosalind Eeles from the Institute of Cancer Research and colleagues at universities in the UK and Australia carried out the research. The study was published in the peer-reviewed scientific journal: Nature Genetics.

What kind of scientific study was this?

This was a genome wide association study (a type of case control study) that aimed to identify variations within the DNA that could be associated with susceptibility to prostate cancer.

The researchers took blood samples from 1,854 white men in the UK who had prostate cancer showing clinical symptoms. All the men had either been diagnosed by 60 or had a family history of prostate cancer as this meant that they were more likely to have a genetic component to their cancer than men diagnosed later or who had no family history.

The researchers also obtained blood samples from 1,894 white men aged 50 or over from the UK who did not have prostate cancer. All the men in this control group had low levels of prostate-specific antigen (PSA) and these men were chosen as men with low PSA levels are unlikely to develop prostate cancer.

The DNA was extracted from these blood samples and the researchers looked at 541,129 points in the DNA that were known to have variations to see whether they could find genetic variants that were more or less common in cases than in controls. To confirm these results the researchers repeated the tests on DNA from another 3,268 men with prostate cancer and 3,366 controls from the UK and Australia.

The researchers then looked at the genes near the identified variants and suggested some effects the variants might have.

What were the results of the study?

In the first stage of the study, the researchers found that variants in regions on chromosomes 8 and 17 were associated with risk of prostate cancer, confirming previous findings from other studies. They also found eight other variants associated with an increased risk of developing prostate cancer, and three variants associated with a reduced risk. Eight of these variants, located in seven different areas, were confirmed by the tests on the second set of cases and controls.

The researchers compared their results to those of another similar genome wide association study, and found that five of the eight variants had showed some association with prostate cancer in the other study.

Men who carried two copies of the risk variant on chromosome 3 were about twice as likely to develop prostate cancer as those who carried no copies of this rare risk variant. However, it is possible that this result might not be very accurate (the estimate had wide confidence intervals). When they looked at the other risk variants individually, having two copies increased the risk of prostate cancer by between 19% and 61% compared to men who had no copies of the risk variant.

When the genes located near these variants were examined, it was found that the variant with the strongest association with prostate cancer lay near the MSMB gene, a gene that encodes a protein that is made by cells in the prostate gland. It is possible that the newly-discovered variant could affect how active the MSMB gene is.

Another of the variants was located in a part of the LMTK2 gene that does not contain code that is translated into protein, and another lay between the genes KLK2 and KLK3.

What interpretations did the researchers draw from these results?

The researchers concluded that they have identified genetic variants in seven areas that are associated with prostate cancer. They say that their results show that prostate cancer is “genetically complex”, and may help in prostate cancer screening or in finding new therapeutic targets.

What does the NHS Knowledge Service make of this study?

This is a well-conducted genetic study, which increases confidence in its results by replicating its findings in a separate sample of individuals. However, there are some important points to note when interpreting this study:

- As the authors themselves report, the contribution of each of these genetic variants is “modest”, and together they explain only about 6% of the familial risk of prostate cancer. This means that there are probably many other genetic factors playing a role.

- As is the case with this type of study, even though a variant may be associated with a disease, this does not mean that it is causing the disease. Although some of the variants lie close to genes that could be involved in the development of prostate cancer, none of the variants have been proven to affect how these genes function. Until this can be done, it cannot be assumed that they are “causing” prostate cancer.

- In order to improve the likelihood of detecting genetic variants that contribute to prostate cancer risk, the first part of this study included only men whose prostate cancer was likely to have had a genetic component: those whose cancer occurred at a younger age and those who had a family history of the disease. For men without these features, these genetic variants may contribute less to their susceptibility.

- This study included white men from the UK and Australia only. The variants identified may not play a role in risk of prostate cancer in men from other countries and with different ethnic backgrounds.

As the authors say, the genetics of prostate cancer is complex, and there will be many genetic and environmental factors playing a role. Further studies are needed before large-scale genetic screening programmes for susceptibility to prostate cancer become a reality.

Links to the headlines

Genetic test in three years to detect prostate cancer. The Guardian, February 10 2008
Prostate cancer screening ‘hope’. BBC News, February 10 2008
Gene breakthrough lifts hope of prostate cancer screening for every man. The Times, February 10 2008

Links to the science

Multiple newly identified loci associated with prostate cancer susceptibility
Eeles RA, Kote-Jarai Z, Giles GG, et al.
Nat Genet 2008; Feb 10

This news comes from NHS Choices

Wouter Staal, child - and adolescent psychiatrist at the department of Psychiatry, comments:

Autism is an impairment which has a very high hereditary contribution, over 90%. Several linkage and association studies have been performed without consistent replication of data.

The different international consortia joint forces and performed a genome-wide linkage study. At the same time copy number variations (CNV’s) were mapped, these are very small changes in the amount of the hereditary material.

Approximately 10% of the patients appeared to have these CNV’s. This group of patients was excluded during the linkage analysis. The linkage analysis resulted in a suggestive linkage peek on the short arm of chromosome 11 (11p12-13). This area contains over 160 genes, indicating that “the gene” has not been found yet.

The next step is further analysis of the CNVs in autism patients. In collaboration with Peter Burbach, the department of Pharmacology and Anatomy, and the division Medical Genetics we will now compare CNVs in autism patients to control subjects on an even higher resolution as before.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature Genetics - 39, 319 - 328 (2007)
Published online: 18 February 2007; | doi:10.1038/ng1985
The Autism Genome Project Consortium

The Rudolf Magnus Institute is dedicated to Neuroscience

The institute was named after the first professor of Pharmacology in the Netherlands, Rudolf Magnus.

In 1968, on the initiative of David De Wied, the Department of Pharmacology was renamed “Rudolf Magnus Institute of Pharmacology”, to commemorate the 60th anniversary of the first chair for Pharmacology in The Netherlands.

Under the directorship of De Wied’s successor, Willem Hendrik Gispen, who was director in 1988-2000, the Rudolf Magnus Institute was transformed into a Neuroscience institute, aptly named Rudolf Magnus Institute of Neuroscience, which encompassed many research groups from three Faculties of Utrecht University.

The present director Jan M. van Ree (director since 2001), has taken on himself the task to redefine the aims of the research within the institute. To this end, functional Sections were formed, each around a defined research topic, to maximise the use of resources and research output. The new elan of the Institute is among others expressed in the modernised logo.

http://www.rudolfmagnus.nl