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Study links APC gene to learning and autistic-like disabilities

PUBLIC RELEASE DATE:

17-Jun-2014

Contact: Siobhan E. Gallagher siobhan.gallagher@tufts.edu 617-636-6586 Tufts University, Health Sciences Campus

BOSTON (June 17, 2014, 4:00 a.m. EDT) Autistic-like behaviors and decreased cognitive ability may be associated with disruption of the function of the Adenomatous Polyposis Coli (APC) gene. When Tufts researchers deleted the gene from select neurons in the developing mouse brain, the mice showed reduced social behavior, increased repetitive behavior, and impaired learning and memory formation, similar to behaviors seen in individuals with autism and intellectual disabilities. This study is the first to evaluate how the loss of APC from nerve cells in the forebrain affects brain development, learning, and behavior. The research team, led by Michele Jacob, Ph.D., engineered a new mouse model for studying cognitive and autistic-like disabilities. The study was published online today in Molecular Psychiatry.

In addition to observing autistic-like behaviors and cognitive impairments in the mice, researchers found significant molecular changes in the brain. Eliminating APC chiefly from the excitatory neurons in the forebrain led to altered levels of specific proteins that regulate gene expression and influenced the structure, number, and function of synapses.

Some of these molecular changes have not been seen in other genetic mouse models of cognitive and autistic-like disabilities, but are likely relevant to the human disorders based on recently identified risk genes. The researchers propose that APC tightly regulates particular protein levels, maintaining them within a range that is critical to normal learning and memory consolidation.

"What makes this study interesting is that although there are hundreds of risk genes implicated in autism, the removal of this single gene produced a multi-syndromic disorder similar to that seen in individuals with both cognitive deficits and autism. The APC-deficient mice are noticeably different from normal mice in their impaired learning, poor memory consolidation, repetitive behaviors, and reduced social interest," said co-first author Jonathan Alexander, a Ph.D. candidate in neuroscience at the Sackler School of Graduate Biomedical Sciences at Tufts and a member of the Michele Jacob lab at Tufts University School of Medicine.

"This APC knock-out mouse is different because APC is eliminated from a specific type of cell in the brain during a critical period of development. This leads to deregulation of key signaling pathways and produces the cognitive and behavioral changes that we observed," explained co-first author Jesse Mohn, Ph.D., a graduate of the Sackler School and now a scientist at Galenea Corp.

"APC loss leads to molecular changes predicted to resemble, at least in part, those caused by spontaneous mutations in another gene, CHD8, recently identified as a high confidence risk factor for sporadic autism, that is, autism that arises spontaneously rather than inherited genetic mutations from parents. Thus, our findings are relevant to autism and intellectual disabilities caused by other human gene mutations, not only APC," said senior author Michele Jacob, Ph.D., professor of neuroscience at Tufts University School of Medicine, and member of the Cell, Molecular and Developmental Biology; Cellular and Molecular Physiology; and Neuroscience program faculties at the Sackler School.

"This study demonstrates the vital role that APC plays as a central hub that links to and regulates multiple signaling pathways within nerve cells that are essential for normal cognition and social behavior," added Antonella Pirone, Ph.D., a co-author and postdoctoral scholar in the Jacob lab. "We hope that identifying these novel molecular and functional changes caused by APC loss will contribute to the development of effective treatments for autism and cognitive impairments in patients."

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"Tom Sawyer" Regulatory Protein Initiates Gene Transcription in a Hit-and-Run Mechanism

Released: 6/18/2014 1:00 PM EDT Embargo expired: 6/23/2014 3:00 PM EDT Source Newsroom: New York University Contact Information

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Newswise A team of genome scientists has identified a hit-and-run mechanism that allows regulatory proteins in the nucleus to adopt a Tom Sawyer behavior when it comes to the work of initiating gene activation.

Their research, which appears in the Proceedings of the National Academy of Sciences, focuses on transcription factorsproteins that orchestrate the flow of genetic information from DNA to messenger RNA (mRNA). Their results show how transcription factors (TFs) activate mRNA synthesis of a gene, and leave the scene in a model termed hit-and-run transcription.

Much like Mark Twains Tom Sawyer who begins to paint Aunt Pollys fence, and then convinces others that they are privileged join in, before leaving to relax, this pioneer transcription factor binds to a gene promoter to initiate transcription and then leaves, recruiting its friends to continue work it started, explains New York University Biology Professor Coruzzi, the studys senior author.

The transcription factor under study is crucial to activating genes needed to respond to nitrogen, a nutrient signal that is the rate-limiting element in plant growth.

Thus, in addition to uncovering a new mechanism of hit-and-run transcription, the discovery has potential practical applications to improving nitrogen responses in crop plants.

The discovery points to the possibility of re-engineering plants in ways that increase their efficiency in acquiring and assimilating nitrate, a primary source of energy that is contained in fertilizer. By reducing the amount of nitrate-based fertilizers, growers can lower the health risks associated with fertilizer runoff into ground waters.

The study, funded by the National Institutes of Health, also included researchers from Cold Spring Harbor Laboratories and Frances National Center for Scientific Research (CNRS), focuses on specific changes to Gene Regulatory Networks (GRNs).

GRNs the circuit boards that dictate how the genes in living organisms interact to propagate responses to signals in their environmentare of particular interest to genomics researchers in the new field of Systems Biology, which aims to understand of how genes work together as a system. In this example, understanding how nitrogen signals are conducted through the genetic circuit board could point to ways to create more environmentally sustainable plants and crops.

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Clemson, Greenwood Genetic Center research into autism, cancer funded by Self Healthcare

PUBLIC RELEASE DATE:

13-Jun-2014

Contact: Peter Kent pkent@clemson.edu 864-723-0491 Clemson University

GREENWOOD, S.C. Seven research projects from Greenwood Genetic Center and Clemson University faculty were selected to receive the first round of funding provided by Self Regional Healthcare (SRHC).

In February, SRHC announced a partnership with Clemson and GGC to serve as the lead hospital partner in the collaborative. As part of that commitment, the hospital pledged a total of $5.6 million toward the project, including $1.2 million per year for three years to fund genetic research.

Fourteen projects were submitted from faculty at both Greenwood Genetic Center and Clemson University. Each project was evaluated by an independent team, and final selections were announced this week by Dr. Steve Skinner, director of the Greenwood Genetic Center, and Steve Kresovich, the Robert and Lois Coker Trustees Chair of Genetics/SmartState Chair of Genomics at Clemson.

Five of the funded projects focus on the understanding and treatment of autism spectrum disorders, while two proposals were combined to study improved diagnostics for hereditary cancers.

"The blending of research teams from both Clemson and GGC will allow our institutions to build on the strengths of one another," said Skinner. "Self Regional's commitment to supporting these endeavors is a vital part of understanding, and ultimately treating, disorders like autism and cancer that impact so many families."

Each selected project includes team members from both Clemson and Greenwood Genetic Center. The following proposals were funded:

Modi Wetzler from Clemson's department of chemistry will work on developing a therapy for autism patients who have a specific known mutation.

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Will diabetes patients benefit from the Affordable Care Act?

PUBLIC RELEASE DATE:

14-Jun-2014

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, June 14, 2014The Affordable Care Act (ACA, also known as Obamacare) is dramatically changing health care delivery in the U.S. Specific parts of the new law, which will be phased in through 2020, will have a significant impact on patients with diabetes and prediabetes, as explored in a comprehensive Review article published in Diabetes Technology & Therapeutics (DTT), a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the DTT website at http://online.liebertpub.com/doi/full/10.1089/dia.2014.0171.

In "Diabetes and the Affordable Care Act," Mark R. Burge, MD and David S. Schade, MD, University of New Mexico School of Medicine, discuss the aim of the ACA to overcome specific deficiencies in the current health care system and how the changes will affect individuals with diabetes. Following a detailed overview of the ACA, the authors detail items within the law that are of special benefit to patients with diabetes. These include the ultimate closure of the infamous Medicare Part D "donut hole"a gap in prescription medication coverage that mainly affects seniors, causing them to incur substantial out-of-pocket expenses.

Another important feature of the ACA is its non-exclusion of pre-existing conditions provision. With this provision, for example, people with type 1 diabetes, and many with type 2 diabetes, who would probably be unable to purchase health care coverage on the individual marketplace due to a pre-existing condition exclusion, are ensured access to coverage under the ACA. Other advantages of the ACA include a prohibition on limiting lifetime/annual essential health benefits and the ability of young people to stay on their parents' insurance plans until age 26.

Prevention is also a key aspect of the new law, as the ACA provides certain preventive services at no cost. Of particular benefit for individuals with diabetes are pneumococcal and influenza vaccines, depression screening, and preventive tooth care for children. The ACA also authorized the creation of the National Diabetes Prevention Program at the Centers for Disease Control and Prevention (CDC), which is intended to deliver to communities evidence-based lifestyle change programs for preventing type 2 diabetes.

"The ACA may be an important step toward achieving improved diabetes care resulting in better long-term outcomes," says DTT Editor-in-Chief Satish Garg, MD, Professor of Medicine and Pediatrics at the University of Colorado Denver. "With improved glucose control, a better understanding of the disease, and improved therapeutic options, people with diabetes are living longer, and the ACA may not have accounted for the enormity of the potential cost burden this presents. Additionally, it is important that the ACA includes coverage for new and emerging therapies and technologies to ensure that all patients have equal access based on their individual needs."

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Contact: Vicki Cohn, Mary Ann Liebert, Inc., (914) 740-2100, ext. 2165, vcohn@liebertpub.com

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Harvard study finds substance abuse & mental health problems in MSM interfere with HIV medication adherence

PUBLIC RELEASE DATE:

11-Jun-2014

Contact: Bill Schappert bschappert@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, June 11, 2014Men who have sex with men (MSM) account for more than 60% of HIV infections in the U.S. and 78% of new infections in men. Antiretroviral therapy can control HIV infection and suppress viral load, but mental health and substance abuse problems common among MSM can interfere with medication adherence. How conditions such as depression and alcohol and drug abuse can affect anti-HIV therapy and the success of various interventions are explored in an article published in LGBT Health, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the LGBT Health website.

Jaclyn White, MPH, Janna Gordon, and Matthew Mimiaga, ScD, MPH, Fenway Health, Massachusetts General Hospital/Harvard Medical School, and Harvard School of Public Health, Boston, MA, review the mental health problems and specific substances that pose the greatest threat to medication adherence among MSM. Targeted interventions can improve MSM's psychosocial problems while also helping them adhere to their antiretroviral drug regimens. Effective strategies identified through rigorous clinical trials must be translated into clinical practice, suggest the authors in the article "The Role of Substance Use and Mental Health Problems in Medication Adherence among HIV-Infected MSM."

"For people living with HIV, the importance of adherence to antiretroviral therapy cannot be over-emphasized," says Editor-in-Chief William Byne, MD, PhD, Icahn School of Medicine at Mount Sinai, New York, NY. "It is essential to preventing both the manifestations of infection in the individual and the sexual transmission of the virus to others. In this article, White and colleagues show the importance of addressing mental health and substance use in antiretroviral adherence interventions for MSM."

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About the Journal

Spanning a broad array of disciplines LGBT Health, published quarterly online with Open Access options and in print, brings together the LGBT research, health care, and advocacy communities to address current challenges and improve the health, well-being, and clinical outcomes of LGBT persons. The Journal publishes original research, review articles, clinical reports, case studies, legal and policy perspectives, and much more. Complete tables of content and a sample issue may be viewed on the LGBT Health website.

About the Publisher

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Moffitt study shows utilizing genetic health care professional reduces unnecessary testing

PUBLIC RELEASE DATE:

13-Jun-2014

Contact: Kimberly Polacek Kim.Polacek@moffitt.org 813-745-7408 H. Lee Moffitt Cancer Center & Research Institute

TAMPA, Fla. (June 13, 2014) A new Moffitt Cancer Center study published Thursday in Genetics in Medicine shows that counseling from a genetic health care provider before genetic testing educates patients and may help reduce unnecessary procedures.

Up to 10 percent of cancers are inherited, meaning a person was born with an abnormal gene that increases their risk for cancer. "Pre-test genetic counseling in which a health care provider takes a thorough family history and discusses the potential risks and benefits of genetic testing is standard of care as recommended by the American Society of Clinical Oncology and National Society of Genetic Counselors," said Tuya Pal, M.D., a board-certified geneticist at Moffitt and senior author of the paper.

In the Moffitt study, researchers surveyed 473 patients who had genetic testing for BRCA1 and BRCA2 gene mutations, which are associated with an increased risk of breast and ovarian cancers. Among study participants who saw a board-certified geneticist or genetic counselor, almost all recalled having a pre-test discussion, compared to only 59 percent of those who did not. These findings suggest large differences in quality of care across providers who order testing.

The researchers also suggest there may be cost-of-care implications when genetic health care providers are involved. "Our results suggest that genetic health care providers are less likely to order more expensive comprehensive genetic testing, when less expensive testing may be appropriate," said Deborah Cragun, Ph.D., lead study author and post-doctoral fellow at Moffitt. "Our study found that in cases where less expensive testing may be appropriate, genetic health care providers ordered comprehensive testing for 9.5 percent of participants, compared to 19.4 percent when tests were ordered by other health care providers. At the time of data collection, comprehensive genetic testing cost approximately $4,000, compared to $400 for the less expensive testing."

The findings are important, noted researchers, because costs and quality of care are often the focus of policy-level decisions in health care.

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The study was supported by grants from Florida's Bankhead-Coley Cancer Research Program (IBG09-34198) and the National Cancer Institute (5R25 CA147832-04).

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U of MD researchers receive NIH grant to study personalized medicine for genetic diabetes

PUBLIC RELEASE DATE:

18-Jun-2014

Contact: Karen Warmkessel kwarmkessel@umm.edu 41-032-889-194-104-041-53 University of Maryland Medical Center

BALTIMORE June 18, 2014. The National Institutes of Health (NIH) has awarded a four-year, $3.7 million grant to researchers at the University of Maryland School of Medicine to develop a personalized medicine program to help doctors diagnose and treat monogenic diabetes a form of diabetes caused by a mutation in a single gene. The study will evaluate methods to implement this program in various health care settings, with an objective to develop a model that could also be applied to caring for patients with genetic variations of other common diseases.

Inherited forms of diabetes, resulting from defects in HNF1A, GCK, HNF4A and a host of other genes, account for at least 1 percent or over 250,000 of diabetes cases nationwide. The actual number may be much higher because of the current challenges in correctly diagnosing those affected.

The two primary forms of monogenic diabetes are maturity-onset diabetes of the young (MODY), a form of non-insulin-requiring diabetes found in young, sometimes lean, people, and neonatal diabetes mellitus (NDM), diagnosed in infants under 6 months old. The majority of these individuals are misdiagnosed with type 1 or type 2 diabetes and may not be receiving appropriate treatment for their genetically-based disease, according to Toni I. Pollin, M.S., Ph.D., a University of Maryland genetics researcher and lead investigator on the study.

"Most health care professionals including endocrinologists and geneticists know little about genetic types of diabetes. When they are familiar with them, the high cost and limited availability of genetic testing, which is not always covered by insurance, are major impediments to diagnosing the condition correctly," says Dr. Pollin, associate professor of medicine and epidemiology & public health and member of the Program in Personalized and Genomic Medicine at the University of Maryland School of Medicine. "A recent study indicated that monogenic diabetes is only diagnosed correctly in about 6 percent of cases in the United States."

"This research will enhance our ability to identify and properly diagnose individuals and families with specific inherited forms of diabetes, tailor treatment to their diagnosis and identify other family members at risk for developing diabetes," Dr. Pollin says. "Correct and early diagnosis and treatment should improve blood sugar control and decrease life-threatening complications."

The most common forms of diabetes, type 1 and type 2, are polygenic involving multiple genes. Environmental and lifestyle factors, such as diet and activity level in the case of type 2 diabetes, often also come into play.

It is important for doctors to identify the specific type of diabetes in order to determine the most effective treatment. For example, patients with type 1 diabetes an autoimmune disorder that destroys insulin-producing beta cells in the pancreas require treatment with insulin for survival. Those with type 2 diabetes, who don't produce enough insulin or use it properly, typically receive metformin as a first-line treatment. For patients with certain forms of genetic diabetes, oral medications called sulfonylureas enable the patient to release his/her own insulin and are more effective and far less invasive than insulin injections in controlling blood sugar levels.

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Vast genetic diversity among Mexicans found in large-scale study

PUBLIC RELEASE DATE:

12-Jun-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center

The first large-scale, comprehensive analysis of the genomic diversity of Mexico led by researchers at the Stanford University School of Medicine, the University of California-San Francisco and the Mexican National Institute of Genomic Medicine has identified a dazzling mosaic of genotypes and population substructures across the country.

Some groups are as genetically different from one another as Europeans are from East Asians.

The study, which will be published June 13 in Science, soundly refutes the current practice of lumping together Mexicans or Latinos as a homogenous group for genetic, clinical or population studies. In particular, the researchers found that variations in Native American ancestry among Mexicans and Mexican Americans significantly affect biomedical traits, such as lung function, emphasizing the importance of incorporating fine-scale ethnic information into clinical practice.

The analysis represents an international collaboration of researchers from the United States, Mexico, Spain and the United Kingdom.

"Understanding the genetic structure of a population is important for understanding its population history, as well as designing studies of complex biomedical traits, including disease susceptibility," said Stanford professor of genetics Carlos Bustamante, PhD. "As we deploy genomics technology in previously understudied populations like those of Latin America, we discover remarkable richness in the genetic diversity of these important groups and why it matters for health and disease."

"Mexico harbors one of the largest amounts of pre-Columbian genetic diversity in the Americas," said Andres Moreno-Estrada, MD, PhD, life sciences research associate at Stanford. "For the first time, we've mapped this diversity to a very fine geographic scale, and shown that it has a notable physiological impact on an important clinical trait: lung function."

Bustamante, who directs the Stanford Center for Computational, Evolutionary and Human Genomics, shares senior authorship of the study with Esteban Burchard, MD, MPH, professor of bioengineering and therapeutic sciences and medicine at UCSF. Moreno shares lead authorship with Christopher Gignoux, PhD, a postdoctoral scholar now at Stanford and previously at UCSF, and Juan Carlos Fernandez Lopez, a researcher at the Mexican genomic institute.

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Genetic influence on pulmonary function: Six further genes identified

PUBLIC RELEASE DATE:

16-Jun-2014

Contact: Prof. Dr. Holger Schulz schulz@helmholtz-muenchen.de 49-893-187-4119 Helmholtz Zentrum Mnchen - German Research Center for Environmental Health

In their investigations or so-called genome-wide association studies, the team of researchers compared the genetic profile of study participants to the forced vital capacity (FVC), a volume parameter of lung function. Six gene loci here displayed a clear association with the FVC values. Involvement in lung development or certain pulmonary diseases is furthermore suspected for these genes.

Better understanding of the association between genes, lung function and lung diseases

The identified genes open up new molecular biological approaches for a better understanding of lung development and of the repair and remodelling processes during disease pathogenesis. "The results supply the foundation for detailed research into lung diseases and clarification of the association between genetics, lung function and susceptibility to respiratory disorders", reports Prof. Dr. Holger Schulz, head of the Pulmonary Epidemiology research group at the Helmholtz Zentrum Mnchen (HMGU). "Against the background of these findings, we can, for example identify possible risk groups and develop new therapeutic approaches", adds Dr. Christian Gieger (HMGU).

Comprehensive genome analysis: more than 85,000 participants from 35 studies

Under the direction of the National Institute of Environmental Health Sciences in the United States, the team of international scientists analyzed the data from a total of 85,170 participants from 35 study cohorts. Also included were participants in the German KORA cohort studies, which were evaluated by HMGU scientists. The Institutes of Epidemiology I and II (EPI I, EPI II), the Institute of Genetic Epidemiology (IGE) and the Comprehensive Pneumology Center (CPC) at the HMGU were involved.

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Lung diseases are among the leading causes of death around the world. Genetics, life style and environmental factors play a role in their development. As the German Research Center for Environmental Health, the HMGU's focus is on major widespread diseases. Its objective is to develop new approaches to diagnosis, therapy and prevention.

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Spelen met dna : Minecraft mod advenced genetics – Video


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Ten Minutes Masterclass in Genetics Counselling – Basics – Video


Ten Minutes Masterclass in Genetics Counselling - Basics
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Eight undergraduate students receive travel awards from the Genetics Society of America

PUBLIC RELEASE DATE:

18-Jun-2014

Contact: Raeka Aiyar press@genetics-gsa.org 202-412-1120 Genetics Society of America

BETHESDA, MD The Genetics Society of America (GSA) is pleased to name the recipients of the GSA Undergraduate Travel Awards for summer/fall 2014. These awards promote excellence in undergraduate research and education by providing financial assistance for undergraduate members to present their research at a GSA conference.

"It's inspiring to see the quality of research conducted by our undergraduate members," noted GSA Executive Director Adam Fagen, PhD. "We look forward to hearing more about their findings at an upcoming GSA conference and to following these talented scientists as they continue in their careers."

The winners of the GSA Undergraduate Travel Awards for summer/fall 2014 are:

Alex Murphy, Gonzaga University, Spokane, WA, USA

Research focus: "I am interested in how an extra chromosome in a cell, generated by a common mistake in cell division, affects how that cell can function, and I'm using brewer's yeast as a model organism to pursue this question." Travel to: 2014 GSA Yeast Genetics Meeting Mentor: Kirk Anders

Benjamin Walker, Roanoke College, Salem, VA, USA

Research focus: "My research tests the effects of estrogen on the development of facial cartilage in zebrafish (Danio rerio)." Travel to: GSA 11th International Conference on Zebrafish Development and Genetics Mentor: Christopher Lassiter

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Rutherford-based Cancer Genetics Inc. to acquire North Carolina-based company

* DNA testing firm purchasing North Carolina biomarker facility

Cancer Genetics Inc., a Rutherford-based DNA diagnostics company that performs oncology tests and services, said Monday that it has agreed to buy a North Carolina-based biomarker testing and biorepository services company for about $4.75 million as the company extends its reach by acquisitions.

Cancer Genetics said it had signed a non-binding letter of intent to buy Gentris Corp., a privately held company. The purchase price is $3.25 million in cash, $1.5 million in Cancer Genetics stock, and performance-based earn outs up to $1.5 million, according to a news release.

The acquisition of Gentris will allow Cancer Genetics to have genome-based tests for cancer diagnosis and prognosis and also allow for the company to provide personalized medications for the treatment of specific cancers, the release said.

"Gentris has world-class expertise in pharmacogenomics that will be highly complementary to our existing oncology diagnostic business," Panna Sharma, chief executive officer of Cancer Genetics, said in the news release. "We view this acquisition as part of our long-range strategic plan to deepen our capabilities in developing unique and individualized treatment insights in oncology.''

The acquisition is expected to be completed in the third quarter of 2014 and will be treated as an asset purchase, Cancer Genetics said. Forty employees employed by Gentris will now become Cancer Genetics employees, the news release said.

The Gentris acquisition is the second purchase Cancer Genetics has made in 2014. In May, the company said it bought India-based BioServe Biotechnologies India Pvt. Ltd. for about $1.9 million as part of a global growth strategy.

"Once we complete the Gentris acquisition, and the previously announced BioServe acquisition, Cancer Genetics will have approximately 60,000 square feet of state-of-the-art lab space that can serve the needs for oncology-focused patient testing and biopharma trials globally," Sharma said in the release.

Email: wyrich@northjersey.com Twitter: @AndrewWyrich

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Nine graduate students and postdocs receive GSA DeLill Nasser Award

PUBLIC RELEASE DATE:

17-Jun-2014

Contact: Raeka Aiyar, Ph.D. raiyar@genetics-gsa.org 202-412-1120 Genetics Society of America

BETHESDA, MD The Genetics Society of America (GSA) is proud to name nine early-career scientistsfour graduate students and five postdoctoral researchersas Fall 2014 recipients of GSA's DeLill Nasser Award for Professional Development in Genetics. The award provides a $1,000 travel grant for each recipient to attend any national or international meeting, conference, or laboratory course that will enhance his or her career.

"The winners of this award are young researchers who have already produced impressive research in important areas of genetics," said Adam P. Fagen, PhD, GSA's Executive Director. "In the spirit of Dr. Nasser's enthusiastic support of early-stage researchers, we are hopeful that the travel grants will provide useful support for the careers of these talented individuals."

The DeLill Nasser Award was established by GSA in 2001 to honor its namesake, DeLill Nasser (1929-2000), a long-time GSA member who provided critical support to many early-career researchers during her 22 years as program director in eukaryotic genetics at the National Science Foundation. The winners of the Fall 2014 DeLill Nasser Award are:

Postdoctoral Winners

Meleah A. Hickman, PhD, University of Minnesota, USA Research focus: "I study Candida albicans, the leading fungal pathogen of humans, and its sexual and unconventional ploidy transitions in response to antifungal drugs and environmental stresses in order to generate genetic and phenotypic variation and facilitate adaptation." Travel to: 2014 GSA Yeast Genetics Meeting Principal Investigator: Judith Berman

Michelle D. Leach, PhD, University of Toronto, Canada Research focus: "I aim to understand the mechanisms by which pathogenic fungi such as Candida albicans sense heat and activate the thermal adaptation mechanisms that promote infection." Travel to: 2014 GSA Yeast Genetics Meeting Principal Investigator: Leah Cowen

Daniel A. Pollard, PhD, University of California, San Diego, USA Research focus: "I study how genetic differences among individuals affect the speed at which they make and break down proteins." Travel to: 2014 GSA Yeast Genetics Meeting Principal Investigator: Scott Rifkin

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The genes behind immunity

PUBLIC RELEASE DATE:

17-Jun-2014

Contact: Cristy Gelling cgelling@thegsajournals.org 412-478-3537 Genetics Society of America

BETHESDA, MD June 17, 2014 Immunity is what stops you dying from a common cold or a tiny pinprick. Differences in resistance or tolerance to disease influence who catches the bug that's going around the office, or which species succumb to the deadly fungus devastating frogs around the world. But immunity involves more than just the immune cells that recognize and hunt down pathogens. It is influenced by the host's health, physiology, behavior, and environment. And underlying all these processes and their intricate interactions are the genes that govern their function.

This broader conception of the genetic underpinnings of host defenses against pathogens reflects the increasing complexity of ideas in this field. Scientists are turning to a wide variety of organisms and approaches to tame this complexity and, in some cases, to use their findings to improve human health. To encourage the emerging conversation between disciplines and to catalyze new advances, the Genetics Society of America journals GENETICS and G3: Genes|Genomes|Genetics have launched an ongoing collection of research articles that address the genetics of immunity. Several articles from the collection are published today in a special section of the June issues of both journals, accompanied by a commentary article that places the articles in context.

So far, articles published in the collection include research on fruit flies, an important genetic model organism, addressing the ways in which the demands of mating and reproduction compete with immunity and how immunity changes with age. Other articles examine crucial applied questions, such as how genes influence autoimmune thyroid diseases, or which chickens are the most resistant to colonization by Campylobacter jejuni, one of the most common causes of food-borne illness in humans. Many more articles are listed in the collection, which will be bolstered by new articles as they are published.

"Defense against infection is profoundly important for our health, and for the agriculture and ecosystems that sustain us. But it is being increasingly recognized that immunity has complex determinants, so genetic research in this area is becoming broader and more diverse. We hope this collection will become a home for much exciting and significant research in this field in the future." says Brian Lazzaro, biologist at Cornell University and one of the editors of the new collection.

The collection includes research from City University of New York, Cornell University, Free University Berlin, German Cancer Research Center, Harvard University, Johns Hopkins University, National Jewish Health and University of Colorado, Trinity College, University of Dublin, University of Maryland, University of Massachusetts, University of Pittsburgh School of Medicine, University of Saskatchewan, University of Texas and the University of WisconsinMadison.

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CITATIONS: B. Lazzaro and D.S. Schneider The Genetics of Immunity. GENETICS June 2014 197:467-470; doi:10.1534/genetics.114.165449

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Victor Ambros named co-recipient of 2014 Gruber Genetics Prize

PUBLIC RELEASE DATE:

17-Jun-2014

Contact: Jim Fessenden james.fessenden@umassmed.edu 508-856-2000 University of Massachusetts Medical School

WORCESTER, MA Victor R. Ambros, PhD, professor of molecular medicine at the University of Massachusetts Medical School, has been awarded the 2014 Gruber Genetics Prize, along with long time collaborator Gary Ruvkun, PhD, professor of genetics at Massachusetts General Hospital and Harvard Medical School, and David Baulcombe, PhD, professor of botany at the University of Cambridge. Dr. Ambros, the Silverman Chair in Natural Sciences and co-director of the RNA Therapeutics Institute, and his scientific colleagues, received the prize for their pioneering discoveries of the existence and function of microRNAs and small interfering RNAs, molecules that are now known to play a critical role in gene expression.

"The discoveries of these three pioneering scientists have opened major new areas in chemistry, biology, agriculture and medicine, and have revealed fundamental mechanisms that are shared among organisms as diverse as plants and animals, including humans," said H. Robert Horvitz, PhD, Gruber and Nobel Prize laureate, and David H. Koch Professor at the Massachusetts Institute of Technology (MIT).

Established in 2001, the Gruber Genetics Prize is awarded for fundamental insights in the field of genetics and may include original discoveries in genetic function, regulation, transmission and variation, as well as in genomic organization. The prize, which is awarded along with a gold medal and an unrestricted $500,000 cash award, will be presented to the recipients in San Diego on Oct. 19 at the annual meeting of the American Society of Human Genetics.

The unlikely discovery of microRNAs, also known as miRNA, and their function dates back to the 1980s when Ambros and Dr. Ruvkun were both postdoctoral fellows in the lab of Dr. Horvitz at MIT, studying how the lin-4 and lin-14 genes regulate developmental timing in the nematode C. elegans. Ambros and Ruvkun wanted to understand how mutations of the lin-4 kept the worm's larvae from developing into fully formed animals, while mutations in the lin-14 gene caused the larvae to mature prematurely.

In 1989 Ambros established that lin-4 acts as a repressor of lin-14 activity. How lin-4 achieved this repression, however, was not known. In 1991, it was Ruvkun who established that genetic anomalies in lin-14's sequencespecifically in an area of the gene called the 3' untranslated region (3' UTR)were associated with excess production of the lin-14 protein produced from the messenger RNA that lin-4 targets.

A year later, Ambros successfully isolated and cloned lin-4. To his surprise, Ambros found that the gene's product was not a standard regulatory protein as he had expected, but a tiny non-protein-coding strand of RNA about 22 nucleotides long that is conserved in other nematode species.

Working together, Ambros and Ruvkun compared the lin-4 and lin-14 sequences and discovered that the 22-nucleotide lin-4 RNA and the 3' UTR were partially complementary and that the short complementary regions were highly conserved in evolutionary comparisons to other nematode lin-4 and lin-14 genes. They hypothesized that lin-4 RNA regulated lin-14 by binding to its 3' UTR sequences. Ruvkun then showed that lin-4 controlled the translation of the lin-14 mRNA into protein and it was through this channel that lin-4 achieved repression of lin-14.

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Victor Ambros named co-recipient of 2014 Gruber Genetics Prize

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Gene therapy for rare seeing impairment disorder shows promise for wider use, doctors say ,mesotheli – Video


Gene therapy for rare seeing impairment disorder shows promise for wider use, doctors say ,mesotheli
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Gene therapy for rare seeing impairment disorder shows promise for wider use, doctors say ,mesotheli - Video

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Spinal Cord Injury 1: Epidemiology and Classification of SCI – Video


Spinal Cord Injury 1: Epidemiology and Classification of SCI
Spinal cord injury epidemiology and classification of relevance to the hand surgeon undertaking tetraplegic reconstruction.

By: Dominic Power

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Spinal Cord Injury 1: Epidemiology and Classification of SCI - Video

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Mount Sinai researchers identify protein that keeps blood stem cells healthy as they age

PUBLIC RELEASE DATE:

9-Jun-2014

Contact: Lucia Lee NewsMedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

(New York June 9, 2014) -- A protein may be the key to maintaining the health of aging blood stem cells, according to work by researchers at the Icahn School of Medicine at Mount Sinai recently published online in Stem Cell Reports. Human adults keep stem cell pools on hand in key tissues, including the blood. These stem cells can become replacement cells for those lost to wear and tear. But as the blood stem cells age, their ability to regenerate blood declines, potentially contributing to anemia and the risk of cancers like acute myeloid leukemia and immune deficiency. Whether this age-related decline in stem cell health is at the root of overall aging is unclear.

The new Mount Sinai study reveals how loss of a protein called Sirtuin1 (SIRT1) affects the ability of blood stem cells to regenerate normally, at least in mouse models of human disease. This study has shown that young blood stem cells that lack SIRT1 behave like old ones. With use of advanced mouse models, she and her team found that blood stem cells without adequate SIRT1 resembled aged and defective stem cells, which are thought to be linked to development of malignancies.

"Our data shows that SIRT1 is a protein that is required to maintain the health of blood stem cells and supports the possibility that reduced function of this protein with age may compromise healthy aging," says Saghi Ghaffari, MD, PhD, Associate Professor of Developmental and Regenerative Biology at Mount Sinai's Black Family Stem Cell Institute, Icahn School of Medicine. "Further studies in the laboratory could improve are understanding between aging stem cells and disease."

Next for the team, which includes Pauline Rimmel, PhD, is to investigate whether or not increasing SIRT1 levels in blood stem cells protects them from unhealthy aging or rejuvenates old blood stem cells. The investigators also plan to look at whether SIRT1 therapy could treat diseases already linked to aging, faulty blood stem cells.

They also believe that SIRT1 might be important to maintaining the health of other types of stem cells in the body, which may be linked to overall aging.

The notion that SIRT1 is a powerful regulator of aging has been highly debated, but its connection to the health of blood stem cells "is now clear," says Dr. Ghaffari. "Identifying regulators of stem cell aging is of major significance for public health because of their potential power to promote healthy aging and provide targets to combat diseases of aging," Dr. Ghaffari says.

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Mount Sinai researchers identify protein that keeps blood stem cells healthy as they age

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Dr. Omar Gonzalez presents his Integrative Medicine Clinic in Mexico – Video


Dr. Omar Gonzalez presents his Integrative Medicine Clinic in Mexico
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Cell Separation Technologies Market- Global Industry Analysis, Size, Share, Growth, Trends and Forecast, 2013 – 2019

DUBLIN, June 19, 2014 /PRNewswire/ -- Research and Markets (http://www.researchandmarkets.com/research/v969qd/cell_separation) has announced the addition of the "Cell Separation Technologies Market- Global Industry Analysis, Size, Share, Growth, Trends and Forecast, 2013 - 2019" report to their offering.

http://photos.prnewswire.com/prnh/20130307/600769

This report consists of the market analysis for the various technologies used in the cell separation market. Increasing cell therapy oriented research and development globally is driving the cell separation technologies market towards significant growth. The stakeholders for this report include providers and manufacturers of cell separation technology instruments.

The cell separation technologies market is segmented on the basis of technologies that are available in the market and application areas of cell separation technologies. The various technology segments covered in this report are gradient centrifugation and separation based on surface markers. Separation based on surface markers technology include two different techniques namely, magnetic activated cell sorting (MACS) and fluorescence activated cell sorting (FACS).

The application areas of cell separation technologies comprise stem cell research, immunology, neuroscience research and cancer research. Revenue forecast and market analysis for each segment has been given in this study for the period of 2011 to 2019 in terms of USD million in addition to the compound annual growth rate (CAGR %) for each segment of technology and application. The CAGR is provided for forecast period of 2013 to 2019 and 2012 have been considered as base in year for market size estimation.

Geographically, global cell separation technologies market has been segmented into four areas namely, North America, Europe, Asia-Pacific and Rest of the World (RoW). This report also provides the present and future market estimation in terms of USD million for the period 2011 to 2019, in addition to compound annual growth rate (CAGR %) for each geographic area. Further to market size estimation, this report provides recommendations and highlights of the market that should be useful for current and new market players to grow and sustain in the global cell separation technologies market.

Market trends and dynamics such as restraints, opportunities and growth drivers that have impact on present and future position of this market are demonstrated in the market overview chapter of this study. In addition, the market overview chapter also consists of Porter's five forces analysis and market attractiveness by geography to give detailed analysis of the entire competitive status of the global cell separation technologies market.

Key information about the top market players operating in the global cell separation technologies market is given in the company profiles section of this report. Some of the key players profiled in this report include BD Bioscience, EMD Millipore, Mitenyi Biotec GmbH, and STEMCELL Technologies, Terumo BCT, pluriSelect GmbH, and Life Technologies (Thermo Fisher Scientific, Inc.).

Key Topics Covered:

Chapter 1 Introduction

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Cell Separation Technologies Market- Global Industry Analysis, Size, Share, Growth, Trends and Forecast, 2013 - 2019

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Stem cell-stimulating therapy saves heart attack patients

PUBLIC RELEASE DATE:

9-Jun-2014

Contact: Kimberly Brown kbrown@snmmi.org 703-652-6773 Society of Nuclear Medicine

St. Louis, Mo. (June 9, 2014) Researchers at the Society of Nuclear Medicine and Molecular Imaging's 2014 Annual Meeting revealed how a protein encourages the production of stem cells that regenerate damaged tissues of the heart following an acute attack (myocardial infarction). They further assert that it has a better chance of working if provided early in treatment. This was confirmed by molecular imaging, which captured patients' improved heart health after therapy.

If given after a heart attack, granulocyte colony-stimulating factor (G-CSF) mobilizes bone marrow stem cells that turn down the collateral damage of cell death that occurs after acute myocardial infarction. Other research has shown G-CSF having a beneficial impact on left ventricle ejection fraction, a measurement of how powerfully the heart is pumping oxygenated blood back into the aorta and the rest of the body with each beat. The objective of this study was to find out how beneficial the stem cellstimulating therapy would be if administered early during standard treatment. Early prescription of G-CSF happens to strengthen its effect immediately and after follow up.

"Previous studies have shown that giving G-CSF to unselected heart attack patients failed to satisfactorily improve their condition, but G-CSF may potentially be beneficial if given earlier than 37 hours following myocardial infarction and coronary intervention," remarked Takuji Toyama, MD, the study's principal researcher from the division of cardiology at Gunma Prefectural Cardiovascular Center in Maebashi, Japan. "This study shows that the first intravenous drip infusion of G-CSF during treatment just after hospitalization was able to rescue our patients. I am confident that with additional data from a forthcoming clinical trial, this protocol can be adopted as a standard of practice."

For this study, 40 consecutive patients with acute myocardial infarction were given either G-CSF therapy or saline intravenously for a total of five days beginning during a selected minimally invasive treatment, otherwise known as percutaneous cardiac intervention. Results of one year's worth of SPECT stress tests nailed how earlier start of G-CSF therapy in heart attack patients improves blood flow, access to essential energy and overall cardiac function.

Coronary heart disease caused one out of every six fatalities in the U.S. in 2010, according to 2014 statistics from the American Heart Association. An estimated 620,000 Americans suffered a first heart attack, and 295,000 had a recurrent episode. Collectively, heart attacks occur about once every 34 seconds. Coronary events cause about 379,559 deaths each year.

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Scientific Paper 239: Takuji Toyama, Hiroshi Hoshizaki, Hakuken Kan, Ren Kawaguchi, Hitoshi Adachi, Shigeru Ohsima, Division of Cardiology, Gunma Prefectural Cardiovascular Center, Maebashi, Japan; Masahiko Kurabayashi, Department of Cardiovascular Medicine, Gunma University School of Medicine, Maebashi, Japan, "Is the granulocyte colony-stimulating factor therapy in the earliest phase effective to rescue patients with acute myocardial infarction?" SNMMI's 61th Annual Meeting, June 7, 2014, St. Louis, Missouri.

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Stem cell-stimulating therapy saves heart attack patients

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Umbilical cord blood helps to save lives

SOUTH BEND, Ind.--- In the 1970's, researchers discovered that a newborn's umbilical cord blood contained special stem cells that could help fight certain diseases.

More than 30 years later doctors are still experimenting and learning more about the use of cord blood.

Amanda Canale doesn't take time with her daughter and niece for granted.

She's just happy to feel good.

"I've been in the hospital, and I've been sick my whole life," said Amanda.

Amanda was born with a rare blood disorder that required daily shots.

"Basically, I have no white blood cells. I have no immune system at all," said Amanda

At 23 she developed Leukemia and was given two weeks to live.

She desperately needed a Bone Marrow Transplant, but family members weren't matches.

Her doctor suggested an Umbilical Cord Blood Transplant.

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Umbilical cord blood helps to save lives

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Stem-cell advances may quell ethics debate

LOUISVILLE, Ky. -- Robert Waddell says he's glad the stem cells that healed him came from "a guy who was 50 years old" and not a human embryo.

As a Catholic, Waddell opposes the destruction of embryos and didn't want to rely on embryonic stem cells to cure his kidney disease. But he avoided this moral dilemma by getting bone marrow stem cells from a friend who donated a kidney as part of a University of Louisville study.

"It has nothing to do with embryonic stem cells," said Waddell, a 47-year-old father of four. "That made it a lot easier."

Recent strides in stem-cell research show adult stem cells to be ever-more-promising, many scientists say, quelling the controversy steeped in faith and science that has long surrounded embryonic stem cells.

In fact, University of Louisville researcher Scott Whittemore said the debate is almost moot.

"Realistically, (many scientists don't use) the types of stem cells that are so problematic anymore," he said, adding that adult stem cells can now be reprogrammed to behave like embryonic stem cells. "The field has moved so fast."

In addition to these genetically reprogrammed adult cells - known as induced pluripotent stem cells or iPS cells - scientists are on the cusp of being able to turn one type of cell into another in the body without using stem cells at all. They shared some of the latest research last week at the annual International Society for Stem Cell Research in Vancouver.

"IPS cells overcame the main ethical issues," namely the use of embryos some Americans consider sacred human life, said Brett Spear, a professor of microbiology, immunology and molecular genetics at the University of Kentucky who uses iPS cells to model liver disease.

But other scientists argue that embryonic stem cell research remains important.

Dr. George Daley, director of the stem cell transplant program at Boston Children's Hospital and past president of the research society, said embryonic cells are a tool in the search for cures.

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Stem-cell advances may quell ethics debate

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Juice Beauty Stem Celluar Line

Author Rating:

Ten minutes into trying Stem Cellular Instant Eye Lift Products by Juice Beauty I knew I was hooked for life. These products are made for the rushing around "tired as all hell mommy who needs a quick pick me up. Your eyes will truly be transformed in 10 amazing minutes. The process is merely two steps (activator fluid meets algae face mask) and the result is reduced fine lines, wrinkles and puffiness. What you are left with is younger looking brighter eyes.

Each box contains six pure marine algae face masks and six Activator Fluid capsules. It is safe for all skin types and an authentic organic product. Vitamin C promotes brightness while white tea, cucumber and arnica extract reduces puffiness. Algae and Aloe hydrate, fruit stem cells promote firmness and camomile and hyaluronic acid encourage skin texture. This unique formula is created without use of parabens, petroleum, pesticides and other harmful additives and none of the products are tested on animals.

I was asking as you probably are how this can be accomplished so quickly. To start, pour the Activator fluid on the face masks and soak them. Once saturated, apply the mask under the eye for 10 minutes. Its that easy and you truly see results! You can choose to follow this treatment with Juice Beauty's Stem Cellular Eye Treatment. The initial treatment retails for around $75.00 while the supplemental treatments in the product line retail for $45-65. The whole line is completely worth the expense! I was amazed!

For more information or to purchase products please visit http://www.juicebeauty.com. You can also find them on Facebook at http://www.facebook.com/juicebeauty, and at Amazon.com.

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Juice Beauty Stem Celluar Line

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