Most of the genetic risk for autism comes from versions of genes that are common in the population rather than from rare variants or spontaneous glitches, researchers funded by the National Institutes of Health have found. Heritability also outweighed other risk factors in this largest study of its kind to date.

About 52 percent of the risk for autism was traced to common and rare inherited variation, with spontaneous mutations contributing a modest 2.6 percent of the total risk.

 “Genetic variation likely accounts for roughly 60 percent of the liability for autism, with common variants comprising the bulk of its genetic architecture,” explained Joseph Buxbaum, Ph.D., of the Icahn School of Medicine at Mount Sinai (ISMMS), New York City. “Although each exerts just a tiny effect individually, these common variations in the genetic code add up to substantial impact, taken together.”

Buxbaum, and colleagues of the Population-Based Autism Genetics and Environment Study (PAGES) Consortium, report on their findings in a unique Swedish sample in the journal Nature Genetics, July 20, 2014.

“Thanks to the boost in statistical power that comes with ample sample size, autism geneticists can now detect common as well as rare genetic variation associated with risk,” said Thomas R. Insel, M.D., director of the NIH’s National Institute of Mental Health (NIMH). “Knowing the nature of the genetic risk will reveal clues to the molecular roots of the disorder. Common variation may be more important than we thought.”

Although autism is thought to be caused by an interplay of genetic and other factors, including environmental, consensus on their relative contributions and the outlines of its genetic architecture has remained elusive. Recently, evidence has been mounting that genomes of people with autism are prone to harbouring rare mutations, often spontaneous, that exert strong effects and can largely account for particular cases of disease.

More challenging is to gauge the collective impact on autism risk of numerous variations in the genetic code shared by most people, which are individually much subtler in effect. Limitations of sample size and composition made it difficult to detect these effects and to estimate the relative influence of such common, rare inherited, and rare spontaneous variation.
Differences in methods and statistical models also resulted in sometimes wildly discrepant estimates of autism’s heritability – ranging from 17 to 50 percent. NIH

The routine use of a molecular testing panel developed at UPMC greatly increases the likelihood of performing the correct initial surgery for patients with thyroid nodules and cancer, report researchers from the University of Pittsburgh Cancer Institute (UPCI), partner with UPMC CancerCenter.

The test improved the chances of patients getting the correct initial surgery by 30 percent, according to the study.

“Before this test, about one in five potential thyroid cancer cases couldn’t be diagnosed without an operation to remove a portion of the thyroid,” said lead author Linwah Yip, M.D., assistant professor of surgery in Pitt’s School of Medicine and UPMC surgical oncologist.  Previously, “if the portion removed during the first surgery came back positive for cancer, a second surgery was needed to remove the rest of the thyroid. The molecular testing panel now bypasses that initial surgery, allowing us to go right to fully removing the cancer with one initial surgery. This reduces risk and stress to the patient, as well as recovery time and costs.”

Cancer in the thyroid, which is located in the “Adam’s apple” area of the neck, is now the fifth most common cancer diagnosed in women.  Thyroid cancer is one of the few cancers that continues to increase in incidence, although the five-year survival rate is 97 percent.

Previously, the most accurate form of testing for thyroid cancer was a fine-needle aspiration biopsy, where a doctor guides a thin needle to the thyroid and removes a small tissue sample for testing. However, in 20 percent of these biopsies, cancer cannot be ruled out. A lobectomy, which is a surgical operation to remove half of the thyroid, is then needed to diagnose or rule-out thyroid cancer. In the case of a postoperative cancer diagnosis, a second surgery is required to remove the rest of the thyroid.

Researchers have identified certain gene mutations that are indicative of an increased likelihood of thyroid cancer, and the molecular testing panel developed at UPMC can be run using the sample collected through the initial, minimally invasive biopsy, rather than a lobectomy. When the panel shows these mutations, a total thyroidectomy is advised.

Dr. Yip and her colleagues followed 671 UPMC patients with suspicious thyroid nodes who received biopsies. Approximately half the biopsy samples were run through the panel, and the other half were not. Patients whose tissue samples were not tested with the panel had a 2.5-fold higher statistically significant likelihood of having an initial lobectomy and then requiring a second operation.

“We’re currently refining the panel by adding tests for more genetic mutations, thereby making it even more accurate,” said co-author Yuri Nikiforov, M.D., Ph.D., professor in the Department of Pathology at Pitt and director of thyroid molecular diagnostics at the UPMC/UPCI Multidisciplinary Thyroid Center. “Thyroid cancer is usually very curable, and we are getting closer to quickly and efficiently identifying and treating all cases of thyroid cancer.” UPMC

It has been some time in the making, but the newly designed Greiner Bio-One website was finally launched at the beginning of July along with our newly designed webshop.

Product and order information for the business divisions Preanalytics (specimen collection), BioScience (products for the biotech industry), Diagnostics (DNA arrays) and OEM (customised developments for the Life Science industry) can be accessed at www.gbo.com.

The innovative design with cool Parallax Scrolling technology at various levels is not the only thing that is new. Alongside the range of improvements, there are also a number of technical innovations, making it even easier to find the information you are looking for.

Features include:

• A download menu divided into product groups, with downloads of flyers, brochures, etc. available in a range of languages
• FAQs for the various products are answered in the "Frequently Asked Questions" section
• The E-learning system "GBO Compass" and social media channels
  can now also be accessed via links
• The latest developments are shown in brief and with an eye-catching layout in Marketing Highlights
• Related content such as print material is shown directly on the various product pages in a separate box.

_{^{Greiner Bio-One International AG
Greiner Bio-One is specialized in the development, production and distribution of high quality laboratory products made from plastic. The company is a technological partner for hospitals, laboratories, universities, research institutes and the diagnostic, pharmaceutical and biotechnology industries. Greiner Bio-One consists of four business units: Preanalytics, BioScience, Diagnostics and OEM. Today the company generates a turnover of 373 Mio. Euro.  Greiner Bio-One is a member of the Greiner Group based in Kremsmünster (Austria).}}

Understanding eye diseases is tricky enough. Knowing what causes them at the molecular level is even more confounding.

Now, University of Iowa researchers have created the most detailed map to date of a region of the human eye long associated with blinding diseases, such as age-related macular degeneration. The high-resolution molecular map catalogues thousands of proteins in the choroid, which supplies blood and oxygen to the outer retina, itself critical in vision. By seeing differences in the abundance of proteins in different areas of the choroid, the researchers can begin to figure out which proteins may be the critical actors in vision loss and eye disease.

“This molecular map now gives us clues why certain areas of the choroid are more sensitive to certain diseases, as well as where to target therapies and why,” says Vinit Mahajan, assistant professor in ophthalmology at the UI and corresponding author on the paper. “Before this, we just didn’t know what was where.”

What vision specialists know is many eye diseases, including age-related macular degeneration (AMD), are caused by inflammation that damages the choroid and the accompanying cellular network known as the retinal pigment epithelium (RPE). Yet they’ve been vexed by the anatomy: Why does it seem that some areas of the choroid-RPE are more susceptible to disease than others, and what is happening at the molecular level? The researchers set about to answer that question with non-diseased eye tissue donated by three deceased older individuals through the Iowa Lions Eye Bank. From there, Mahajan and Jessica Skeie, a post-doctoral researcher in ophthalmology at the UI, created a map that catalogues more than 4,000 unique proteins in each of the three areas of the choroid-RPE: the fovea, macula, and the periphery.

Why that’s important is now the researchers can see which proteins are more abundant in certain areas, and why. One such example is a protein known as CFH, which helps prevent a molecular cascade that can lead to AMD, much like a levee can keep flooding waters at bay. The UI researchers learned, though the map, that CFH is most abundant in the fovea. That helps, because now they know to monitor CFH abundance there; fewer numbers of the protein could mean increased risk for AMD, for instance.

“Now you can see all those differences that you couldn’t see before,” explains Mahajan, whose primary appointment is in the Carver College of Medicine. University of Iowa

Reduced levels of an anti-cancer protein make male brain cells more vulnerable to becoming tumors, according to a new study at Washington University School of Medicine in St. Louis.

New research at Washington University School of Medicine in St. Louis helps explain why brain tumours occur more often in males and frequently are more harmful than similar tumours in females. For example, glioblastomas, the most common malignant brain tumours, are diagnosed twice as often in males, who suffer greater cognitive impairments than females and do not survive as long.

The researchers found that retinoblastoma protein (RB), a protein known to reduce cancer risk, is significantly less active in male brain cells than in female brain cells.

“This is the first time anyone ever has identified a sex-linked difference that affects tumour risk and is intrinsic to cells, and that’s very exciting,” said senior author Joshua Rubin, MD, PhD. “These results suggest we need to go back and look at multiple pathways linked to cancer, checking for sex differences. Sex-based distinctions at the level of the cell may not only influence cancer risk but also the effectiveness of treatments.”

Rubin noted that RB is the target of drugs now being evaluated in clinical trials. Trial organizers hope the drugs trigger the protein’s anti-tumour effects and help cancer patients survive longer.

“In clinical trials, we typically examine data from male and female patients together, and that could be masking positive or negative responses that are limited to one sex,” said Rubin, who is an associate professor of pediatrics, neurology and anatomy and neurobiology. “At the very least, we should think about analysing data for males and females separately in clinical trials.”

Scientists have identified many sex-linked diseases that either occur at different rates in males and females or cause different symptoms based on sex. These distinctions often are linked to sex hormones, which create and maintain many but not all of the biological differences between the sexes.

However, Rubin and his colleagues knew that sex hormones could not account for the differences in brain tumour risk.

“Male brain tumor risk remains higher throughout life despite major age-linked shifts in sex hormone production in males and females,” he said. “If the sex hormones were causing this effect, we’d see major changes in the relative rates of brain tumours in males and females at puberty. But they don’t happen then or later in life when menopause changes female sex hormone production.”

Rubin used a cell model of glioblastoma to prove it is easier to make male brain cells become tumors. After a series of genetic alterations and exposure to a growth factor, male brain cells became cancerous faster and more often than female brain cells. Washington University School of Medicine