Public release date: 7-Apr-2013 [ | E-mail | Share ]

Contact: Aileen Sheehy press.office@sanger.ac.uk 44-012-234-96928 Wellcome Trust Sanger Institute

Researchers have uncovered the gene at the root of a human blood group that has remained a mystery for the past 60 years. They showed that a genetic deletion on this gene is responsible for the lack of this blood group in some people.

With the discovery of the gene behind the Vel blood group, medical scientists can now develop a more reliable DNA test to identify people who lack this group. This will reduce the risk of severe, and sometimes life threatening, destruction of the Vel-positive donor red blood cells in patients with antibodies against Vel.

The genetic basis of nearly all 34 blood group systems has been resolved over the past century, but identification of the underlying gene of the Vel blood group has withstood persistent attempts since it was first identified 60 years ago. It is estimated that one in 5000 people are Vel-negative, and routine blood transfusions for patients with antibodies against Vel can lead to kidney failure and even death.

"This is really exciting as it shows how the power of modern genomics technologies can directly benefit patient care," says Professor Willem Ouwehand , who heads one of the NHS Blood and Transplant research teams at both the University of Cambridge and the Wellcome Trust Sanger Institute. "This is also a milestone in blood group genetics and the end of long and astounding journey of discoveries in blood group genetics which started with Landsteiner from Austria and Fisher, Coombs and Morgan from England."

The discovery by the team would not have been possible without the colleagues from the blood transfusion services of Denmark, England and the Netherlands who undertook the Herculean effort of identifying the 65 individuals that lacked the Vel blood group by testing the red blood cells from nearly 350,000 donors with antibodies against Vel.

They then sequenced the coding fraction of the genomes of five donors who lack the Vel group to identify the underlying gene.

The team showed that the gene SMIM1 malfunctions in Vel-negative people. SMIM1 is found on chromosome 1 and specifies a small protein, five times smaller than the average human protein. This provides a direct explanation why a discovery by other routes has proven so challenging.

"It has been a remarkable feat to go from gene discovery to function in less than two months", continues Professor Ouwehand.

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Final chapter to 60-year-old blood group mystery

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SOUTH PLAINFIELD, NJ--(Marketwired - Apr 7, 2013) - GENEWIZ, Inc., leading global genomics service provider, announced the launch of OncoGxOne Discovery cancer panels, proprietary gene panels designed specifically to assay genomic aberrations for all major cancer types.

Designed and developed by experts with the most recent research data available, GENEWIZ OncoGxOne Discovery cancer panels are the most comprehensive cancer-specific gene panels on the market, and have the ability to detect all types of genomic aberrations, including point mutations, Indels, gene fusions, and copy number variance (CNV).

"With the launch of OncoGxOne Discovery cancer panels, GENEWIZ has the opportunity to drive advancements in cancer research, offering solutions for biomarker discovery, therapeutic target discovery, and novel mutation identification," stated Dr. Guanghui Hu, Vice President of Translational Genomics.

"Using the latest next generation sequencing and bioinformatics technologies, OncoGxOne Discovery cancer panels can detect not only low-frequency variations and gene fusions in both exon and intron regions, but also CNV with great accuracy," Hu asserted. "The resulting data has the ability to stratify patients in clinical trials, as well as make a significant impact on personalized cancer treatment."

For more information about GENEWIZ OncoGxOne Discovery cancer panels, visit GENEWIZ at the American Association for Cancer Research (AACR) Annual Meeting this week in Washington, D.C.

About GENEWIZ, Inc. GENEWIZ, Inc. is a global contract research organization (CRO) specializing in genomic services, including DNA sequencing, gene synthesis, molecular biology, genomic, bioinformatics, and GxP/CLIA regulatory-compliant services. GENEWIZ leads the industry in outsourcing partnerships with pharmaceutical, biotechnology, clinical, academic, and government institutions.

Headquartered in South Plainfield, NJ, GENEWIZ, Inc. is a privately-held global enterprise with locations in Boston, MA; San Diego, CA; Washington, DC Metro; Research Triangle Park, NC; and Seattle, WA. International locations include Beijing, China; Suzhou, China; and London, United Kingdom.

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GENEWIZ, Inc. Launches OncoGxOne(TM) Discovery Cancer Panels

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Dangers of "Diversity" | NationalProtectionism.com
We are told time and again that "diversity" is a great strength for our nations, but this video will examine the dangerous reality of non-white immigration a...

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Christian Jones bin flip
Christian Jones kickflips over a bin at flo.

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(GEAR event at UPenn for girls in high school; Credit: Justin Udo)

By Justin Udo

PHILADELPHIA (CBS) University of Pennsylvanias Society of Women Engineers hosted a workshop called Girls in Engineering and Related Sciences or GEARS. Its an effort to excite young women about a future in engineering

More than 80 girls from 9th-12 grade gathered at the University of Pennsylvania to participate in the day-long program.

Hilary Grosskopf is the Co-chair of University of Pennsylvanias Society of Women Engineers.

They get to experience four different workshops in different field of engineering.

The workshops include a bridge design competition, a glimpse into genetic engineering, a biopharmaceutical manufacturing workshop, and computer design program course.

The young women say this program is making them look at engineering in a whole new light.

Before I came in I really didnt know anything about computers. But I learned how to use part of a computer program which was really cool, I didnt know I could do that.

The students participating in the program received insight and advice into the engineering field by experts who work at Boeing, MWH Global and other companies on the engineering forefront.

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UPenn’s Society Of Women Engineer’s Hosts Education Event For Young Women

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Better Living: Open Doors to Health- Patient Navigators
Specially trained patient navigators in the Open Doors to Health program help patients understand the importance of colonoscopies and walk them through the p...

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Better Living: Domestic Violence Prevention Program
When a woman is a victim of domestic abuse, she can find assistance through the Brigham and Women #39;s Hospital Passageways and the Women #39;s After Care Clinic.

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Quit Everything and Train
Sign up Grow Stronger Newsletter: http://hulsestrength.com/go/youtube Elliott #39;s Other Channel: http://www.youtube.com/user/elliottsaidwhat Elliott #39;s Facebook...

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Stem Cell Therapy for Pets -- Taylor Before After
Amazing before and after footage of Taylor, a 7 year old dog who received stem cell therapy for arthritis in her hips, knees and ankles. For more information...

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International Non-Traumatic Spinal Cord Injury Study Group Overview Current Results

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Coping With a Spinal Cord Injury

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PS3 BF3: Goodie Mob - Cell Therapy : Busta Rhymes - Break Ya Neck : Scarface - Homies Thugs
I do not own the copyright to the music, and no infringement intended. For entertainment purposes only* a little bit of rush on kharg island with rush_n_ata...

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Michael Dickman, pictured with his fiancee Kerry Bright, suffers from the rare medical condition bladder exstrophy. Picture: Chris Scott Source: Sunday Herald Sun

VICTORIAN researchers have made a world-first medical discovery that could help people with a rare, but incredibly severe medical condition.

The research team, led by Monash University and Southern Health Professor of paediatric surgery Wei Cheng, found a mutation in the P63 gene, which increases the risk of bladder exstrophy.

Babies born with the condition have a split in their abdomen and pubic bone, which exposes their bladder, putting them at risk of infection, renal failure and bladder cancer.

Prof Cheng said babies undergo surgery to repair the bladder, close the hole and reattach the pelvic bones, but often suffer lifelong complications.

The research was sparked by the chance discovery of a deformed mouse, which had a strange bubble in the bladder area.

Prof Cheng proved it was bladder exstrophy and started exploring a genetic link.

Prof Cheng and Monash Institute of Medical Research's Dr Simon Wilkins and Dr Susan Zhang co-ordinated a worldwide DNA collection over six years, asking surgeons from Canada, Malaysia, USA, Australia, Spain, India, Bangladesh and China, to collect DNA from patients.

Examination of the DNA led to the discovery of the genetic link.

They found 11 mutations in total; three were associated with an increased risk of BE.

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Gene hope for rare condition

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Genetic Engineering Overview

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Errors Of The Human Body Official US Release Trailer #1 (2013) - Michael Eklund Thriller HD
Subscribe to TRAILERS: http://bit.ly/sxaw6h Subscribe to COMING SOON: http://bit.ly/H2vZUn Like us on FACEBOOK: http://goo.gl/dHs73 Errors Of The Human Body ...

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Supply-side policies - AS Economics
FACEBOOK PAGE: https://www.facebook.com/MultiplexinggamerTutorials Tutorial on Supply side policies for AQA AS level Economics. Requested by Rad.

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The Legislatures Public Health Committee this week gave favorable approval to a measure that would require labeling of all food products containing genetically modified organisms (GMO) products where the genetic makeup has been altered through genetic engineering. On the surface, it sounds like a no-brainer. Who wouldnt want to know what were eating? The problem, however, is that the bill, if enacted, would only be effective within the borders of Connecticut. Several other states are considering similar legislation, but those measures would have no impact here, and our legislation would have no impact anywhere else. Stan Sorkin, president of the Connecticut Food Association, contends that if such labeling were necessary and he and others contend it isnt that such a mandate should be issued by the Federal Food and Drug Administration on a national scale, not piecemeal by individual states. The FDA, however, has denied requests to mandate GMO labeling, saying there is no evidence of the GMO products being unsafe. If there is no public threat, then clearly there is no need for the mandate. But where also is the harm in labeling it as such? Sorkin is correct in that Connecticuts large supermarkets, small groceries and other food-related businesses would be unfairly and unnecessarily harmed with higher costs of doing business if such mandates were applied only to them. Paul Pescatello, president and CEO of Connecticut United for Research Excellence (CURE), also contends that labeling GMO sends the wrong message to the very bio-science industry that Connecticut is hoping to attract to the state. Labeling, he contends, unfairly implies to the public that there is something to be concerned about when if fact there is overwhelming scientific evidence proving otherwise. Unfortunately, in todays society, mistrust of government and corporate America is the bigger threat than any genetically altered product. Such staunch opposition to labeling only feeds into that distrust. Capitalizing on the scientific evidence, and voluntary labeling, would seem the more appropriate course of action. Thats our opinion. Wed like to hear yours. Email us your thoughts at letters@norwichbulletin.com

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Better Living: Open Circle- Social and Emotional Learning
Students in Boston Public Schools are taking part in Open Circle, which empowers them to promote positive behaviors and healthy relationships at school and i...

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PHILADELPHIA Just like a massive iceberg jutting out of the ocean, many of cancers genetic underpinnings remain hidden under the surface, impossible to predict or map from above. The foreboding shadows and shapes that appear on CT scans and MRIs and even in the field that doctors see when they zoom in to look at cancer cells under a high-powered microscope are just the tip of the iceberg.

Penn Medicines new Center for Personalized Diagnostics, a joint initiative of the department of Pathology and Laboratory Medicine in the Perelman School of Medicine and the Abramson Cancer Center, is diving deeper into each patients tumor with next generation DNA sequencing. These specialized tests can refine patient diagnoses with greater precision than standard imaging tests and blood work, all with an aim to broaden treatment options and improve their efficacy.

Were using the most advanced diagnostic methods to unlock cancers secrets, says David B. Roth, MD, PhD, chairman of the department of Pathology and Laboratory Medicine. A tumors genomic profile is the most critical piece of information for an oncologist to have when theyre deciding what therapy to recommend. The results of tests in the Center for Personalized Diagnostics reveal a genetic blueprint of each patient's tumor that is as discrete and singular as a fingerprint.

The Center for Personalized Diagnostics unites top experts in genomic analysis, bioinformatics, and cancer genetics who use the most sensitive data analysis tools available to identify the rarest of mutations with oncologists who treat patients and design clinical trials to test new therapies. Together, their efforts will provide cancer patients with cutting-edge diagnostic and therapeutic options.

The first group of patients who are undergoing testing through the CPD includes those with blood cancers and solid tumors of the brain, melanoma, and lung. Throughout 2013, the tests will be expanded for a wider range of cancer patients. Results are available within two weeks twice as fast as most commercially available testing panels. All new and relapsed Abramson Cancer Center patients will receive this testing conducted via simple blood tests and/or biopsy of tumor tissue or bone marrow as part of their evaluation and diagnostic process. Interpretation of results is communicated one-on-one to patients and their caregivers by physicians and genetic counselors.

In contrast to the CPDs offerings, individual genetic tests which now proliferate in the marketplace, even for healthy people who may be interested in going on a spelunking expedition through their DNA are time consuming and expensive to conduct, and they often yield information which is not clinically actionable. When these tests are offered for cancer patients, patients are often left with only a veritable alphabet soup detailing genetic information, with few plans for how to use those findings to conquer their cancer.

Since the CPD began operating in early 2013, however, tests in 80 percent of patients revealed genetic mutations that may be used to alter their treatment course or clarify their prognosis. The results are playing a role in:

The Centers research agenda operates in parallel with its clinical care mission. Each patients test results will add to an enormous repository of genomic mutation profiles that, combined with the ability to follow patients over time, will help clinical researchers identify new markers and mutation profiles to better predict the course of an individual patient's treatment response and suggest new targets for therapy. As new mutations are detected and novel treatment options are identified, the gene testing panels will be modified and expanded, creating an evolving, real-time mutation profiling option.

We see 11,500 newly diagnosed patients each year in the Abramson Cancer, and hundreds of others who seek our help when their cancers have not responded, or have returned, after receiving standard therapies elsewhere, said Chi Van Dang, MD, PhD, director of the Abramson Cancer Center. A key part of our mission is to provide each of these patients these tests as soon as possible, so that we can quickly tailor a treatment regimen that provides them the greatest chance of a cure.

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Penn Medicine 's New Center for Personalized Diagnostics Unlocks Cancer's Secrets

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April 5, 2013 - 10:31 AMT

PanARMENIAN.Net - Genetic markers that could help highlight who is at risk of developing Alzheimer's disease have been identified by U.S. scientists, according to BBC News.

The research in Neuron identifies mutations that affect the build-up of certain proteins in the brain.High levels of these tau proteins increase the chance of having the disease.

UK experts said the study could help understand the changes that occur in the brains of Alzheimer's patients.

Tangles of a kind of tau called phosphorylated tau (ptau) are a hallmark of the disease.

One of the new gene variants identified by the Washington University School of Medicine team was also shown to be linked to a small increased risk of developing Alzheimer's and a greater risk of cognitive decline.

The team used genetic information from more than 1,200 people, significantly larger than previous studies in this area.

Dr Alison Goate, who led the study, said: "We anticipate that knowledge about the role of these genes in Alzheimer's disease may lead to the identification of new targets from therapies or new animal or cellular models of the disease.

UK experts said the study adds to the number of genetic markers that have been linked to the development of Alzheimer's disease.

Dr Doug Brown, director of research and development at the Alzheimer's Society, said: "In discovering new genes that have a link to Alzheimer's, this robust study helps scientists to better understand the way the brain changes when dementia develops.

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Scientists identify genetic markers of Alzheimer's risk

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Public release date: 5-Apr-2013 [ | E-mail | Share ]

Contact: Sally Garneski pressinquiry@facs.org 312-202-5409 American College of Surgeons

Chicago (April 5, 2013): Patients faced with the diagnosis of a life-threatening liver disease have to consider the seriousness of having a liver transplant, which can be a definitive cure for many acquired and genetic liver diseases. Among the main considerations are the anxiety of waiting for a donor organ, the risks associated with the transplant operation, and the chance that the transplant procedure will not achieve the desired result. There is also the six-figure cost of the procedure and accompanying patient care, all of which may not be completely covered by health insurance. But, according to a study appearing in the April issue of the Journal of the American College of Surgeons, researchers at the David Geffen School of Medicine, University of CaliforniaLos Angeles (UCLA), found that liver transplants are worth the risk for people who have genetic liver conditions.

The study is a first-of-its-kind, single-institution comparison of outcomes for both pediatric and adult patients undergoing liver transplantation for lethal genetic syndromes. Researchers found that children with genetic disorders that cause fibrosis, cirrhosis, and other liver conditions, which can affect other organs, have a good chance of still being alive five years, even 20 years after a liver transplant operation. Adults with these types of conditions also have high survival rates.

"If we had not transplanted these patients, long term, they would have died," said study lead author, Henrik Petrowsky, MD, who was an attending transplant surgeon and assistant professor of surgery at UCLA during the time the study was conducted.

Patients with genetic liver conditions are different from those who developed liver diseases from a hepatitis C infection or alcoholism. First, this patient population is less common. Dr. Petrowsky estimates that only about nine percent of liver transplants in children and only two percent in adults are performed as a treatment to correct genetic conditions. Second, the severity of genetic liver disease may not be as obvious. Since donated livers are allocated according to who needs them most, people with genetic liver diseases often have to be given extra consideration when weighing how long they can wait for a donor organ.

Although the genetic defect permeates every cell in the affected patient's body, it expresses mainly in the liver. However, certain disorders could also affect other organs. During a transplant, when the old liver is replaced with a new one "it's almost a form of gene therapy," explains Dr. Petrowsky, who is now vice chair of the department of visceral and transplant surgery at the University Hospital Zurich in Switzerland. "The genetic defect is still in every cell, but since it's mainly expressed in the liver, the genetic disorder is corrected by the transplanted liver which does not harbor the genetic defect."

Dr. Petrowsky's team wanted to evaluate the impact of the transplant procedure on patients' outcomes, especially because patients families go through so much before a transplantable liver can be procured. Therefore, the investigators looked at patient records from the UCLA liver transplant database for 74 children and 78 adults who had received liver transplants between 1984 and 2012 to correct genetic disorders. For 68 percent of those patients, the genetic disorder led to cirrhosis, or scaring of the liver, making liver transplantation their only hope for survival.

Five years later, 89 percent of children in the study were still alive, and 77 percent were still alive 20 years later. For adults, 73 percent were still alive after five years and 50 percent were still alive after 20 years.

"Without a transplant, the five-year survival rates are below five percent, depending on the severity of the liver disease," Dr. Petrowsky said.

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Liver transplantation for patients with genetic liver conditions has high survival rate

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Apr. 5, 2013 Patients faced with the diagnosis of a life-threatening liver disease have to consider the seriousness of having a liver transplant, which can be a definitive cure for many acquired and genetic liver diseases. Among the main considerations are the anxiety of waiting for a donor organ, the risks associated with the transplant operation, and the chance that the transplant procedure will not achieve the desired result. There is also the six-figure cost of the procedure and accompanying patient care, all of which may not be completely covered by health insurance. But, according to a study appearing in the April issue of the Journal of the American College of Surgeons, researchers at the David Geffen School of Medicine, University of California-Los Angeles (UCLA) found that liver transplants are worth the risk for people who have genetic liver conditions.

The study is a first-of-its-kind, single-institution comparison of outcomes for both pediatric and adult patients undergoing liver transplantation for lethal genetic syndromes. Researchers found that children with genetic disorders that cause fibrosis, cirrhosis, and other liver conditions, which can affect other organs, have a good chance of still being alive five years, even 20 years after a liver transplant operation. Adults with these types of conditions also have high survival rates.

"If we had not transplanted these patients, long term, they would have died," said study lead author, Henrik Petrowsky, MD, who was an attending transplant surgeon and assistant professor of surgery at UCLA during the time the study was conducted.

Patients with genetic liver conditions are different from those who developed liver diseases from a hepatitis C infection or alcoholism. First, this patient population is less common. Dr. Petrowsky estimates that only about 9 percent of liver transplants in children and only 2 percent in adults are performed as a treatment to correct genetic conditions. Second, the severity of genetic liver disease may not be as obvious. Since donated livers are allocated according to who needs them most, people with genetic liver diseases often have to be given extra consideration when weighing how long they can wait for a donor organ.

Although the genetic defect permeates every cell in the affected patient's body,it expresses mainly in the liver. However, certain disorders could also affect other organs. During a transplant, when the old liver is replaced with a new one "it's almost a form of gene therapy," explains Dr. Petrowsky, who is now vice chair of the department of visceral and transplant surgery at the University Hospital Zurich in Switzerland. "The genetic defect is still in every cell, but since it's mainly expressed in the liver, the genetic disorder is corrected by the transplanted liver which does not harbor the genetic defect."

Dr. Petrowsky's team wanted to evaluate the impact of the transplant procedure on patients' outcomes, especially because patients families go through so much before a transplantable liver can be procured.

Therefore, the investigators looked at patient records from the UCLA liver transplant database for 74 children and 78 adults who had received liver transplants between 1984 and 2012 to correct genetic disorders. For 68 percent of those patients, the genetic disorder led to cirrhosis, or scaring of the liver, making liver transplantation their only hope for survival.

Five years later, 89 percent of children in the study were still alive, and 77 percent were still alive 20 years later. For adults, 73 percent were still alive after five years and 50 percent were still alive after 20 years.

"Without a transplant, the five-year survival rates are below 5 percent, depending on the severity of the liver disease," Dr. Petrowsky said.

Only one pediatric patient and one adult patient had a recurrence of the underlying genetic disease. The pediatric patient died 12 years after the transplant. The adult had another liver transplant and was still alive 22 years later. "For certain genetic conditions, replacing the liver is not enough," Dr. Petrowsky explained, because "other tissues and organs are expressing the mutated protein. So the discussion now is should we do a combined liver and bone marrow transplantation in these rare cases to improve the outcome?"

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Liver transplantation for patients with genetic liver conditions has high survival rate, study finds

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Scientists have identified early genetic markers that can potentially predict who is at an increased risk for developing Alzheimers, Medical Daily reported.

Currently, in order to determine if someone will develop Alzheimers disease, doctors use tests that analyze the amount of Tau protein buildup in the central nervous system. The more Tau in an individuals system, the more likely he or she will progress towards dementia.

However, there was no system to help determine who will start expressing this protein years ahead of time until now.

Researchers from Washington University School of Medicine in St. Louis have identified genetic mutations that can influence the accumulation of Tau proteins, according to Medical Daily. This discovery could potentially lead to an early genetic test, which could help reveal those who are most at risk for Alzheimers leading to earlier, more effective treatments.

"We have identified several genes that influence the levels of soluble tau in the cerebrospinal fluid, senior author Dr. Alison Goate, of WU School of Medicine, told Medical Daily, and we show that one of these genes also influences risk for Alzheimer's disease, rate of cognitive decline in Alzheimer's disease, and density of tangle pathology in the brain."

After performing a genetic analysis on 1,269 patients, Goate and her team identified genetic mutations in a previously implicated region, found in the gene TREM2, as putting people at risk for Alzheimers. A receptor gene, TREM2 can actually influence the development of another similar gene TREML2.

According to the researchers, the two genes while similar acted oppositely in association with the Tau protein levels. The first was associated with risk for Alzheimers and the other was protective against the disease.

Goate said the team would continue to perform more studies to determine the full effects of the gene mutations on nervous systems in the brain.

The research was published in the journal Neuron.

Click for more from Medical Daily.

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Genetic markers found to predict Alzheimer's

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