GoldLab Symposium 2014 - Lucy Shapiro
Lucy Shapiro, Ph.D., Professor and Director of the Beckman Center for Molecular and Genetic Medicine, Stanford University School of Medicine spoke at GLS2014. Her presentation: "The Bugs are...
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GoldLab Symposium 2014 - Lucy Shapiro - Video
Posted: Wednesday, May 28, 2014, 2:00 PM
WEDNESDAY, May 28, 2014 (HealthDay News) -- A team of international researchers has identified nearly 85 percent of proteins in the human body.
Proteins are the substances that provide structure, function and regulation of the body's tissues and organs. Human genes contain instructions (encoding) that direct the production of proteins, according to the U.S. National Institutes of Health.
In addition to finding the majority of the body's proteins, the researchers also identified 193 new proteins on the human genome. The proteins were found in areas of DNA that were believed to be "noncoding," or regions that do not encode proteins.
Finding proteins in areas with genes that weren't believed to code means the human genome could be more complex than previously believed, the researchers concluded.
"This was the most exciting part of this study, finding further complexities in the genome. The fact that 193 of the proteins came from DNA sequences predicted to be noncoding means that we don't fully understand how cells read DNA, because clearly those sequences do code for proteins," Dr. Akhilesh Pandey, a professor at the McKusick-Nathans Institute of Genetic Medicine and of biological chemistry, pathology and oncology at Johns Hopkins University in Baltimore, said in a news release.
More than 10 years ago, researchers identified all of the nearly 25,000 genes in human DNA. Known as the Human Genome Project, the research provided scientists with genetic information that helped them figure out how changes in certain genes could trigger some diseases.
The current researchers set out to create an initial catalog of all the proteins in the human body, or the human "proteome." The team identified proteins originating from more than 17,000 genes, which is about 84 percent of all of the genes in the human genome predicted to encode proteins.
Cataloging human proteins and where they can be found in the body may provide scientists even more insight than a catalog of all the genes in the human genome, the researchers pointed out. They explained that the characteristics of an organism depend on its genes. These genes, however, provide directions for making proteins, which are the building blocks of all cells in the body.
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Researchers Identify New Genetic Building Blocks
PUBLIC RELEASE DATE:
27-May-2014
Contact: Shawna Williams shawna@jhmi.edu 410-955-8236 Johns Hopkins Medicine
A genetic variant linked to sudden cardiac death leads to protein overproduction in heart cells, Johns Hopkins scientists report. Unlike many known disease-linked variants, this one lies not in a gene but in so-called noncoding DNA, a growing focus of disease research. The discovery, reported in the June 5 issue of The American Journal of Human Genetics, also adds to scientific understanding of the causes of sudden cardiac death and of possible ways to prevent it, the researchers say.
"Traditionally, geneticists have studied gene variants that cause disease by producing an abnormal protein," says Aravinda Chakravarti, Ph.D., a professor of medicine, pediatrics, molecular biology and genetics, and biostatistics in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. "We think there will turn out to be many DNA variants that, like this one, cause disease by making too much or too little of a normal protein."
Chakravarti's interest in sudden cardiac death emerged a decade ago, when it claimed several of his colleagues within a few months. An expert in complex common diseases, he and his team knew that sudden cardiac death can be caused by many conditions. They focused on one: abnormalities in what is known as cardiac repolarization the time it takes for the heart to gear up to beat again.
The team compared the genetic sequences of tens of thousands of people with their electrocardiogram (ECG) results, identifying several regions on the genome with genetic variations associated with lengthened QT interval, a measure of cardiac repolarization, in the ECG. "The problem is that most of these variants lie outside of genes, in the noncoding DNA that controls how genes are used," Chakravarti says, "so it's hard to tell what genes they're affecting."
Despite the challenge, Chakravarti and his colleagues were able to home in on one suspect region of the genome housing a gene called NOS1AP. "There were many variants grouped in this area," says Ashish Kapoor, Ph.D., a postdoctoral researcher in Chakravarti's laboratory, "so we catalogued all 200 that we found." The team then went through a process of elimination using genetically engineered, lab-grown cells and zebra fish to identify a variant in the noncoding DNA that affected how much protein was made by the nearby NOS1AP gene.
Next, they cultured rat heart cells and engineered them to overproduce NOS1AP. When the concentration of the protein rose in a particular type of heart cell called a cardiomyocyte, the cells' electrical properties changed in a way that is similar to the pattern seen in long QT syndrome.
Kapoor notes that 67 percent of the general population carries the NOS1AP-overproducing genetic variant. "We have observed that NOS1AP genetic variants are associated with sudden cardiac death whether or not they affect a particular person's QT interval, raising the risk by about 40 percent," he says. Chakravarti notes that the results also add to scientific understanding of how the heart and QT interval work knowledge with far-reaching implications. For example, many drugs developed for noncardiac conditions have turned out to temporarily lengthen QT interval, a side effect that only turns up after much time and money are spent on drug development. By better understanding regulation of the QT interval, researchers would be better able to predict what types of drugs could affect it.
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Quantity, not quality: Risk of sudden cardiac death tied to protein overproduction
PHILADELPHIA The Penn Medicine Center for Health Care Innovation will fund three new initiatives in the second round of its Innovation Grant Program. The program encourages Penn employees and students to submit their ideas for advancing health and health care delivery. Winners receive funding and support from the Center for Health Care Innovation to facilitate the rapid translation of ideas into action and measurable outcomes over six months.
Fifty-six different ideas were submitted for review this spring. The winners include a cloud-based platform for ICU EEG monitoring and visualization of test results, a telemedicine effort to improve access to genetic testing and counseling services, and technology to improve prenatal services. Each winner will receive design support and between $5,000 and $75,000 in funding to further develop and test their idea.
The innovation grant program allows us to help thought leaders across Penn Medicine accelerate programs and practices with the potential to make a meaningful difference in health care delivery, said David Asch, MD, MBA, professor of medicine and executive director of the Penn Medicine Center for Health Care Innovation. We were excited by the level of interest from our colleagues, and we are eager to begin work in June.
Cloud-based platform for ICU EEG monitoring and visualizing results A team led by Brian Litt, MD, a professor in Neurology & Bioengineering, will build an automated, cloud-based platform for Intensive Care Unit (ICU) electroencephalogram (EEG) interpretation. Patients are monitored continuously with EEGs in ICUs worldwide. Recent studies show a large percentage of ICU patients have seizures, brain ischemia, encephalopathy, or other conditions that can be detected early on an EEG, allowing therapy to be initiated promptly.
However, continuous long-term EEG monitoring currently presents two major problems: it must be interpreted manually by physicians, delaying the delivery of results to the caregivers, and those caregivers rely on written reports from these studies, thus inhibiting the ability to view trends over time or forecast when a patients condition may deteriorate. The project aims to build an automated, cloud-based system for interpreting long-term ICU EEG data to speed response to changes in patients conditions and improve patient outcomes.
Telemedicine to improve access to genetic services Angela R. Bradbury, MD, an assistant professor of Hematology-Oncology in the Abramson Cancer Center, will use telemedicine to increase access to genetic testing and counseling services.
Genetic testing for cancer susceptibility is now an essential component of oncology care, increasing the need for genetic counseling specialists to assist in care of patients and their families. Testing is typically available only at large, academic facilities, leaving many providers and patients without access to genetic counseling locally. Genetic testing should always be conducted in conjunction with proper pre- and post- test counseling to contextualize the test and outline what the results may mean. As genomic applications in oncology expand, the demand for genetic expertise will increase and gaps in delivery will worsen. Through an NIH study, Bradbury and her team showed telemedicine can be an effective way to expand genetic services to populations with limited or no access to care. The new project seeks to transition the teams research-supported telemedicine program to a sustainable clinical model.
Technology to Improve Prenatal Services Spearheaded by Ian Bennett, MD, PhD, an associate professor of Family Medicine & Community Health, this initiative uses text messages to engage and educate patients, enabling early interventions to reduce poor pregnancy outcomes.
Low income women have high rates of poor pregnancy outcomes, including low birth weight, preterm birth, and preeclampsia. While signs of these conditions and associated risk factors can be identified in the course of prenatal care and targeted by interventions, the effectiveness of prenatal visits can be limited by patient literacy and engagement, as well as limited time to educate them. Delays in the identification of these disorders can result in poor perinatal outcomes.
Penn Medicines Helen O. Dickens Center for Women serves more than 3,000 low income patients each year, primarily African American women who are at increased risk for these outcomes. The project will create an application to deliver information regarding signs and symptoms of adverse pregnancy conditions to at risk women via text message. Fundamental to this project is the belief that an informed and engaged patient will increase the effectiveness of monitoring for pregnancy disorders.
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Penn Medicine's Innovation Grant Program Announces Second Round Winners
Illlustration by Vasava
Douglass Turnbull spends much of his time seeing patients who have untreatable, often fatal, diseases. But the neurologist has rarely felt more helpless than when he met Sharon Bernardi and her young son Edward.
Bernardi had lost three children within hours of birth, owing to a mysterious build-up of acid in their blood. So it was a huge relief when Edward seemed to develop normally. He did all his milestones: he sat up, he crawled and started to walk at 14 months, Bernardi recalls. But when he was about two years old, he began to fall over after taking a few steps; he eventually started having seizures. In 1994, when Edward was four, he was diagnosed with Leigh's disease, a condition that affects the central nervous system. Doctors told Sharon that her son would be lucky to reach his fifth birthday.
Turnbull, who works at Newcastle University, UK, remembers despairing that whatever we do, we're never going to be able to help families like that. His frustration sparked a quest to develop assisted-reproduction techniques to prevent disorders such as Leigh's disease, which are caused when children inherit devastating mutations in their mitochondria, the cell's energy-making structures.
The procedures sometimes called three-person in vitro fertilization (IVF) involve transferring nuclear genetic material from the egg of a woman with mutant mitochondria into another woman's healthy egg. Turnbull and others have tested the techniques in mice, monkeys and human egg cells in culture; now, they say, it is time to try them in people. The UK Parliament is set to vote on the issue later this year; if legislation passes, the country would be the first to allow this kind of genetic modification of unborn children.
Ewen Callaway talks to researchers and a patient about the techniques that replace faulty DNA in egg cells
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But some scientists have raised concerns over the safety of the procedures, and an increasingly vocal coalition of activists, ethicists and politicians argues that a 'yes' vote will lead down a slippery slope to designer babies. US regulators and scientists are closely watching the debate as they consider allowing similar procedures. I admire what they've done in Britain, says Dieter Egli, a stem-cell scientist at the New York Stem Cell Foundation, a non-profit research institute. I think they are far ahead in discussion of this, compared to the US.
The mitochondrion, according to one popular theory, was once a free-living bacterium that became trapped in a host cell, where it boosted the cell's capacity to generate the energy-carrying molecule ATP. As a result, each mitochondrion has its own genome but it no longer has all the genes it needs to function independently (the human mitochondrial genome, for example, has a paltry 37 genes).
Unlike the genome in the cell nucleus, which includes chromosomes from both parents, all of a person's mitochondria derive from the thousands contained in the mother's egg. For reasons still being studied, the mitochondrial genome is much less stable than the nuclear genome, accruing random DNA mutations about 1,000 times faster. As many as 1 in 5,000 children are born with diseases caused by these mutations, which affect power-hungry cells such as those in the brain and muscles. The severity of the conditions depends on the proportion of diseased mitochondria a mother passes on to her children.
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PUBLIC RELEASE DATE:
20-May-2014
Contact: Melissa Morgenweck morgenwm@mskcc.org 646-227-3633 The JAMA Network Journals
Multiplexed testing of lung cancer tumors identified genetic alterations that were helpful in selecting targeted treatments. Patients that received matched therapy for lung cancer lived longer than patients who did not receive directed therapy, although randomized clinical trials are required to determine if this treatment strategy improves survival, according to a study in the May 21 issue of JAMA.
The introduction of targeted therapy has transformed the care of patients with lung cancers by incorporating tumor genotyping into treatment decisions. Adenocarcinoma, the most common type of lung cancer, is diagnosed in 130,000 patients in the United States and 1 million persons worldwide each year. Adenocarcinoma is also the type of lung cancer with a higher than 50 percent estimated frequency of actionable oncogenic drivers, which are molecular abnormalities that are critical to cancer development. These drivers are defined as "actionable" because the effects of those abnormalities can be negated by agents directed against each genomic alteration, according to background information in the article.
Mark G. Kris, M.D., of Memorial Sloan Kettering Cancer Center, New York, and colleagues examined the frequency of oncogenic drivers in patients with lung adenocarcinomas, and the proportion of patients in whom this data was used to select treatments targeting the identified driver(s) along with overall survival. From 2009 through 2012, 14 sites of the Lung Cancer Mutation Consortium enrolled patients with metastatic lung adenocarcinomas and tested the tumors of patients who met certain criteria for 10 oncogenic drivers.
During the study period, tumors from 1,007 patients were tested for at least 1 gene and 733 for 10 genes (patients with full genotyping). An oncogenic driver was found in 466 of 733 patients (64 percent). Results were used to select a targeted therapy or clinical trial in 275 of 1,007 patients (28 percent).
The 260 patients with an oncogenic driver and treatment with a targeted agent had a median (midpoint) survival of 3.5 years; the 318 patients with a driver and no targeted therapy, 2.4 years; and the 360 patients with no driver identified, 2.1 years.
The authors conclude that multiplexed tested aided physicians in selecting lung cancer therapies. Although individuals with drivers receiving a matched targeted agent lived longer, the study design was not appropriate to reach definitive conclusions about survival differences being attributable to the use of oncogenic drivers.
(doi:10.1001/jama.2014.3741; Available pre-embargo to the media at http://media.jamanetwork.com)
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Research identifies genetic alterations in lung cancers that help select treatment
PUBLIC RELEASE DATE:
20-May-2014
Contact: Fiona Godwin medicinepress@plos.org PLOS
Targeted interventions based on genetic risk may not be the best approach for preventing type 2 diabetes and instead universal strategies to prevent obesity should be prioritized, according to new research published in this week's PLOS Medicine. This analysis, led by Claudia Langenberg from the MRC Epidemiology Unit at the University of Cambridge, UK, suggests that the contribution of genetics to the risk of developing type 2 diabetes is greatest in those who are younger and leaner. However, in this group, the absolute risk of developing type 2 diabetes is low and the number of people who would have to be screened in order to guide targeted prevention would be impractically large.
Diabetes is currently estimated to affect more than 380 million people and the epidemic is likely to increase to 592 million by 2035. Type 2 diabetes is thought to be caused by a combination of genetic and lifestyle factors, such as overweight and physically inactivity. While progress has been made in understanding the genetic basis of type 2 diabetes, the details of how adverse lifestyles combine with genetic risk to determine risk of developing type 2 diabetes are uncertain.
The authors quantified the association of genetic and lifestyle factors with the risk of developing type 2 diabetes in a large cohort of 340,234 people in 8 European countries followed for 11.7 years. In this EPIC-InterAct study, 12,403 people developed type 2 diabetes. The researchers identified an individual's genetic risk by determining how many of a list of 49 known type 2 diabetes genetic variants each study participant carried. They then assessed how this genetic risk contributed to each individual's overall risk of developing type 2 diabetes after several risk factors (such as age, waist circumference, physical activity and Mediterranean diet) were taken into account.
They found that the relative increase in risk of type 2 diabetes for each additional adverse gene carried was greatest in participants who were younger and thinner at baseline. However, risk of developing type 2 diabetes was highest in people who were obese, whatever their level of genetic risk for diabetes. The 10-year cumulative incidence of type 2 diabetes was substantially greater for those with the lowest genetic risk who were overweight (1.29%) or obese (4.22%) compared to normal weight individuals with the highest genetic risk (0.89%).
Professor Nick Wareham, who led the EPIC-InterAct study said "this is the largest study to date examining the impact of genetic susceptibility and lifestyle factors on the risk of developing type 2 diabetes". He added that, "the high absolute risk associated with obesity at any level of genetic risk highlights the importance of population-wide, rather than genetically targeted, approaches to promoting healthy lifestyles that minimise excess weight".
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Funding: No funding bodies had any role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Funding for the InterAct project was provided by the EU FP6 programme (grant number LSHM_CT_2006_037197). In addition, InterAct investigators acknowledge funding from the following agencies: PWF: Swedish Research Council, Novo Nordisk, Swedish Diabetes Association, Swedish Heart-Lung Foundation; PD: Work was supported by the Wellcome Trust; LCG: Swedish Research Council; MJT: Health Research Fund (FIS) of the Spanish Ministry of Health; Murcia Regional Government (Nu 6236); LA: EJD: The Spanish Ministry of Health ISCII RETICC RD06/0020; RK: German Cancer Aid, German Ministry of Research (BMBF); TJK: Cancer Research UK; KTK: Medical Research Council UK, Cancer Research UK; APM: Wellcome Trust grant numbers WT098017 and WT090532; CN: Health Research Fund (FIS) of the Spanish Ministry of Health; Murcia Regional Government (Nu 6236); PMN: Swedish Research Council; KO: Danish Cancer Society; SP: Compagnia di San Paolo; JRQ: Asturias Regional Government; OR: The Vasterboten County Council; AMWS and DLvdA: Dutch Ministry of Public Health, Welfare and Sports (VWS), Netherlands Cancer Registry (NKR), LK Research Funds, Dutch Prevention Funds, Dutch ZON (Zorg Onderzoek Nederland), World Cancer Research Fund (WCRF), Statistics Netherlands; RT: AIRE-ONLUS Ragusa, AVIS-Ragusa, Sicilian Regional Government; YTvdS: Verification of diabetes cases was additionally funded by NL Agency grant IGE05012 and an Incentive Grant from the Board of the UMC Utrecht; IB: Wellcome Trust grant 098051 and United Kingdom NIHR Cambridge Biomedical Research Centre; MIM: InterAct, Wellcome Trust (083270/Z/07/Z), MRC (G0601261); ER: Imperial College Biomedical Research Centre.
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Lifestyle interventions are better than genetic tests for preventing type 2 diabetes
The CRISPR system enables researchers to make a small chain of custom-made molecules, called a guide RNA, and a Cas9 enzyme. The guide RNA is like the search function of a word processor, running along the length of the genome until it finds a match; then, the scissorslike Cas9 cuts the DNA. CRISPR can be used to delete, insert, or replace genes.
"We didn't used to think that we had the tools to correct mutation in humans," said Penn Medicine cardiologist Jonathan Epstein, who just began using the technique in his lab. "The advantage of CRISPR is that we can."
For instance, sickle-cell anemia is caused by a mutation in chromosome 11 that causes red blood cells to be crescent-shaped, sticky, and stiff. They end up stuck in the blood vessels, keeping enough oxygen from reaching the body. While the disease can be treated with bone marrow or stem cell transplants, most patients cannot find well-matched donors.
Here's where CRISPR can help. Biomedical engineer Gang Bao of the Georgia Institute of Technology aims to use the system to repair the DNA of a patient's own stem cells, so no outside donor would be needed. The stem cells would be extracted from the patient's bone marrow, their mutations replaced with normal DNA, and inserted back in. The hope is that the gene-corrected stem cells would then begin making normal red blood cells.
The treatment works in mice, and Bao foresees human trials within a few years.
Another way doctors could use CRISPR is to assist in regenerating tissue within damaged organs. Epstein ultimately wants to place embryonic stem cells that have developed into cardiac muscle cells back into the heart. But the main danger with this lies in accidentally injecting any non-cardiac cells. "If you put a cell into the heart meant to make a tooth or a hair, it might cause a tumor," said Epstein.
So instead of blindly inserting a group of cells hoping they are all cardiac muscle, he is using CRISPR to insert marker genes - such as a gene that includes a glowing, green fluorescent indicator - to be able to clear out every other non-heart cell in mouse models.
Earlier methods of performing genomic surgery had barriers of high costs and low flexibility that kept many researchers from adopting them.
"Then CRISPR started coming out, and since then it has absolutely exploded," said biologist Montserrat Anguera of Penn's School of Veterinary Medicine. "CRISPR seems to be the easiest and fastest way for labs to edit the genome."
She studies how embryonic stem cells develop into specialized cells within organs such as the liver or heart. Using CRISPR, she can delete regions of the stem cell genome to help decipher their function in human development.
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Researchers at the Weill Medical College in Qatar (WCMC-Q) have published the first genetic map of the date palm, according to a report. The genetic map shows the order in which the date palms chromosomes are placed and also which chromosome is responsible for reproduction. In theory, the information could one day allow growers to manipulate the development of seeds, creating more female fruit-bearing plants than male plants that do not produce dates, an important food source for much of the Middle East, the report said. Scientists from Saudi Arabia and China completed mapping the genome of the date-palm tree late last year. Scientists from Riyadhs King Abdulaziz City for Science and Technology (KACST) and Chinas Shenzhen-based BGI had been working on the project since 2008. The map has been produced by the genomics group under the direction of Joel Malek, assistant professor of Genetic Medicine at WCMC-Q, in collaboration with Karsten Suhre, professor of physiology and biophysics at WCMC-Q, and with the help of colleagues at the Ministry of Environments Biotechnology Center and the Department of Agricultural Affairs. The program, entitled Establishing World Leadership in Date Palm Research in Qatar, was funded by the National Priorities Research Program (NPRP) at the Qatar National Research Fund (QNRF), which provided $4.5 million to the research. Malek and his team produced a draft version of the date palm genome three years ago. It was this that paved the way for the more accurate map. To create the map, Malek and Suhre worked with the Ministry of the Environments Biotechnology Center and their Department of Agricultural Affairs. The ministry provided the researchers with 150 seeds from a single female tree, which were then propagated by Ameena Al-Malki at the Biotechnology Center. Leaves and DNA were taken from the seedlings once they were large enough for testing. A new process called genotyping-by-sequencing was then applied which sequenced portions of the genomes of all 150 seedlings. It allowed the researchers to look at the parent tree and ascertain how the DNA was passed to the offspring. Khaled Machaca, associate dean of research at WCMC-Q, said the research demonstrates the value of funding novel, regionally relevant, collaborative research between different organizations. The NPRP exceptional proposal (NPRP-EP) funding the date palm research was the first NPRP-EP awarded by QNRF, he said. It funds regionally relevant research that has a high likelihood of contributing toward Qatars knowledge-based economy vision. This funding is beginning to bear fruits by generating the first chromosome map for date palm through collaborative efforts of multiple institutions in Qatar.
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The gene mutations driving cancer have been tracked for the first time in patients back to a distinct set of cells at the root of cancer -- cancer stem cells.
The international research team, led by scientists at the University of Oxford and the Karolinska Institutet in Sweden, studied a group of patients with myelodysplastic syndromes -- a malignant blood condition which frequently develops into acute myeloid leukaemia.
The researchers say their findings, reported in the journal Cancer Cell, offer conclusive evidence for the existence of cancer stem cells.
The concept of cancer stem cells has been a compelling but controversial idea for many years. It suggests that at the root of any cancer there is a small subset of cancer cells that are solely responsible for driving the growth and evolution of a patient's cancer. These cancer stem cells replenish themselves and produce the other types of cancer cells, as normal stem cells produce other normal tissues.
The concept is important, because it suggests that only by developing treatments that get rid of the cancer stem cells will you be able to eradicate the cancer. Likewise, if you could selectively eliminate these cancer stem cells, the other remaining cancer cells would not be able to sustain the cancer.
'It's like having dandelions in your lawn. You can pull out as many as you want, but if you don't get the roots they'll come back,' explains first author Dr Petter Woll of the MRC Weatherall Institute for Molecular Medicine at the University of Oxford.
The researchers, led by Professor Sten Eirik W Jacobsen at the MRC Molecular Haematology Unit and the Weatherall Institute for Molecular Medicine at the University of Oxford, investigated malignant cells in the bone marrow of patients with myelodysplastic syndrome (MDS) and followed them over time.
Using genetic tools to establish in which cells cancer-driving mutations originated and then propagated into other cancer cells, they demonstrated that a distinct and rare subset of MDS cells showed all the hallmarks of cancer stem cells, and that no other malignant MDS cells were able to propagate the tumour.
The MDS stem cells were rare, sat at the top of a hierarchy of MDS cells, could sustain themselves, replenish the other MDS cells, and were the origin of all stable DNA changes and mutations that drove the progression of the disease.
'This is conclusive evidence for the existence of cancer stem cells in myelodysplastic syndromes,' says Dr Woll. 'We have identified a subset of cancer cells, shown that these rare cells are invariably the cells in which the cancer originates, and also are the only cancer-propagating cells in the patients. It is a vitally important step because it suggests that if you want to cure patients, you would need to target and remove these cells at the root of the cancer -- but that would be sufficient, that would do it.'
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Genetic tracking identifies cancer stem cells in human patients
Scientists have identified a genetic marker that may be associated with the development of obsessive compulsive disorder (OCD).
OCD affects an estimated 2 percent of the population and is one of the least understood mental illnesses. The condition is marked by thoughts and images that chronically intrude in the mind and by repetitive behaviors aimed at reducing the associated anxiety. The standard treatments such as selective serotonin reuptake inhibitor (SSRI) medications and behavioral psychotherapy are about 60 to 70 percent effective, but they dont help all patients and only treat disease symptoms.
Identifying a genetic marker for OCD could help scientists develop more effective therapies for the condition.
Like most other medical and psychological conditions, we need to understand what causes conditions, so we can develop real and rational treatments for these conditions and/or prevention, lead study author Dr. Gerald Nestadt, a professor of psychiatry and behavioral sciences at the Johns Hopkins University School of Medicine, told FoxNews.com. Thats why its important to study or identify genetic causes, if there are any.
In collaboration with seven universities, Nestadt and his colleagues conducted a genome-wide association study of 1,400 people with OCD. For their control group, researchers studied the genomes of 1,000 parents of OCD patients. Researchers looked for an association between the condition and a particular genetic marker. They were able to identify a genetic marker located near a gene that encodes the protein tyrosine phosphokinase.In the study, more people in the OCD group had the genetic marker, compared to those in the control group.
A genetic marker typically is not the specific abnormality, but tells researchers something very close to the marker is the variant of interest, Nestadt said. Researchers note that, while they have a found a genetic marker, they have yet to discover the exact variant associated with OCD and therefore do not know the exact genetic cause of the disease.
That is the goal. The idea is that if we know what chemical or protein is affected in the condition, then we can work out what problem is in the brain that causes the condition and the next step is to find a pharmaceutical that changes that or affects that so as to improve the condition, said Nestadt, who is also director of Johns Hopkins Obsessive-Compulsive Disorder program.
While there has been significant genetic research into other physical diseases, such as diabetes and heart disease, OCD has been less studied. Nestadt believes its because there are fewer researchers in the field of OCD genetics, as well as less availability of funds and a lack of understanding of the disease.
We all have friends who say, Well, Im a little OCD. I think that has actually hurt the individuals who truly suffer from the condition everybody thinks of it as a joke or not serious or not disabling. If you seriously meet someone who has OCD and see what life is like, youll absolutely change your mind, he said.
The only known risk factor for OCD is having a family member with the disease. In previous research, Nestadt had found that 40 percent of people with OCD had a first-degree relative with the disease.
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Newswise PHILADELPHIAWhile large genetic testing panels promise to uncover clues about patients DNA, a team of researchers from Penn Medicines Abramson Cancer Center (ACC) has found that those powerful tests tend to produce more questions than they answer. In a study of 278 women with early onset breast cancer who did not have the BRCA genes, the researchers found that only 2.5 percent of the patients had inherited mutations that were actually clinically actionable. Experts dont yet know how to interpret most of the mutations discovered by the testknown as massively parallel gene sequencing.
Results of the study, led by author Kara Maxwell, MD, PhD, a fellow in the division of Hematology-Oncology in the Perelman School of Medicine at the University of Pennsylvania, will be presented during the annual meeting of the American Society of Clinical Oncology (ASCO) in Chicago in early June (Abstract #1510).
Large genetic testing panels sometimes reveal mutations in genes that are associated with an increased risk in developing cancer. BRCA 1 and BRCA 2 genes are prime examples, where women can opt for mastectomies and ovary removal surgerywhich research shows slashes their risk of developing those cancers. However, there is not yet guidance for clinicians on how to care for patients who exhibit other types of mutations, such as CHEK2 and ATM. These are known as variants of unknown significance (VUS).
Were in a time where the testing technology has outpaced what we know from a clinical standpoint. Theres going to be a lot of unknown variants that were going to have to deal with as more patients undergo large genetic testing panels, said Maxwell. Its crucial that we figure out the right way to counsel women on these issues, because it can really provoke a lot of anxiety for a patient when you tell them, We found a change in your DNA and we dont know what it means.
The team, which includes Susan Domchek, MD, the Basser Professor in Oncology and director of the Basser Research Center for BRCA in Penns ACC, and Katherine Nathanson, MD, an associate professor in the division of Translational Medicine and Chief Oncogenomics Physician for the ACC, studied 278 patients who had been diagnosed with breast cancer under the age of 40, were not carriers of the BRCA1 or BRCA2 mutations, and had no family history of ovarian cancer.
The researchers performed massively parallel gene sequencing to detect 22 known or proposed breast cancer susceptibility genes in each woman. Though the testing did reveal multiple variants of genes that are known to confer increased risk of breast cancer in patients who develop the disease young, only 2.5 percent of patients tested were found to have mutations that are actionable under current treatment guidelines, including TP53, CDKN2A, MSH2, and MUTYH.
In all, the sequencing revealed reportable variants in over 30 percent of the patients.
Knowing there is a mutation may not help us any more than knowing that the person has a positive family history which we already know, Nathanson said. We dont know yet what to do with the information on an individual basis, and there certainly are no clinical standards.
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Large Panel Genetic Testing Produces More Questions than Answers in Breast Cancer
A scientific breakthrough has expanded the way genetic information can be stored.
STORY HIGHLIGHTS
(CNN) -- All of life as we know it on Earth -- pigs, pandas, fish, bacteria and everything else -- has genetic information encoded in the same way, with the same biological alphabet.
Now, for the first time, scientists have shown it is possible to alter that alphabet and still have a living organism that passes on the genetic information. They reported their findings in the journal Nature.
"This is the first experimental demonstration that life can exist with information that's not coded the way nature does (it)," said Floyd Romesberg, associate professor of chemistry at the Scripps Research Institute in La Jolla, California.
Medicine can greatly benefit from this discovery, Romesberg said. There's potential for better antibiotics and treatments for a slew of diseases for which drug development has been challenging, including cancers.
The findings also suggest that DNA as we know it on Earth may not be the only solution to coding for life, Romesberg said. There may be other organisms elsewhere in space that use genetic letters we have never seen -- or that don't use DNA at all.
"Is this alien life? No," he said. "Does it suggest that there could be other ways of storing information? Yes."
How they did it
For their genetic experiments, Romesberg and colleagues used molecules, called X and Y, that are completely different from the four building blocks of DNA.
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(MENAFN - The Peninsula) Researchers at Weill Cornell Medical College in Qatar (WCMC-Q) have published the first genetic map of the date palm, paving the way for Qatar to become a leader in date palm genetics and biotechnology.
The map shows the order in which the date palm's chromosomes are placed and which chromosome is responsible for reproduction.
In theory, the information could one day allow growers to manipulate the development of seeds, creating more female fruit-bearing plants than male plants,which do not produce dates. It also places Qatar at the head of research into the date palm, an important food source for much of the Middle East. The map has been produced by the genomics group under the direction of Dr Joel Malek, Assistant Professor of Genetic Medicine, in collaboration with Dr Karsten Suhre, Professor of Physiology and Biophysics, and with help from colleagues at the Ministry of Environment's Biotechnology Centre and its Department of Agricultural Affairs.
The programme 'Establishing World Leadership in Date Palm Research in Qatar' (NPRP-EP X-014-4-001) was funded by Qatar National Research Fund's NPRP Exceptional Proposal programme that provided 4.5m for the research.
Dr Malek said, "This is us laying the foundation for establishing world leadership in date palm research. To be a world leader, you have to have infrastructure and I consider this a genetic infrastructure that will allow us to be the leaders when it comes date palm biotechnology."
Three years ago, he and his team produced a draft version of the date palm genome which paved the way for the more accurate map. To create the map, Dr Malek and Dr Suhre worked with the centre and the Department of Agricultural Affairs. The ministry provided 150 seeds from a female tree and they were then propagated by Ameena Al Malki at the centre. Once they were large enough, leaves and DNA were taken from the seedlings. A new process 'genotyping-by-sequencing' was applied which sequenced portions of the genomes of all seedlings. It allowed the researchers to look at the parent tree and ascertain how it passed her DNA to her offspring.
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A scientific breakthrough has expanded the way genetic information can be stored.
STORY HIGHLIGHTS
(CNN) -- All of life as we know it on Earth -- pigs, pandas, fish, bacteria and everything else -- has genetic information encoded in the same way, with the same biological alphabet.
Now, for the first time, scientists have shown it is possible to alter that alphabet and still have a living organism that passes on the genetic information. They reported their findings in the journal Nature.
"This is the first experimental demonstration that life can exist with information that's not coded the way nature does (it)," said Floyd Romesberg, associate professor of chemistry at the Scripps Research Institute in La Jolla, California.
Medicine can greatly benefit from this discovery, Romesberg said. There's potential for better antibiotics and treatments for a slew of diseases for which drug development has been challenging, including cancers.
The findings also suggest that DNA as we know it on Earth may not be the only solution to coding for life, Romesberg said. There may be other organisms elsewhere in space that use genetic letters we have never seen -- or that don't use DNA at all.
"Is this alien life? No," he said. "Does it suggest that there could be other ways of storing information? Yes."
How they did it
For their genetic experiments, Romesberg and colleagues used molecules, called X and Y, that are completely different from the four building blocks of DNA.
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(CNN) -
All of life as we know it on Earth -- pigs, pandas, fish, bacteria and everything else -- has genetic information encoded in the same way, with the same biological alphabet.
Now, for the first time, scientists have shown it is possible to alter that alphabet and still have a living organism that passes on the genetic information. They reported their findings in the journal Nature.
"This is the first experimental demonstration that life can exist with information that's not coded the way nature does (it)," said Floyd Romesberg, associate professor of chemistry at the Scripps Research Institute in La Jolla, California.
Medicine can greatly benefit from this discovery, Romesberg said. There's potential for better antibiotics and treatments for a slew of diseases for which drug development has been challenging, including cancers.
The findings also suggest that DNA as we know it on Earth may not be the only solution to coding for life, Romesberg said. There may be other organisms elsewhere in space that use genetic letters we have never seen -- or that don't use DNA at all.
"Is this alien life? No," he said. "Does it suggest that there could be other ways of storing information? Yes."
How they did it
For their genetic experiments, Romesberg and colleagues used molecules, called X and Y, that are completely different from the four building blocks of DNA.
Normally, the genetic code consists of four nucleotide bases: adenine (A), cytosine (C), guanine (G) and thymine (T). In DNA, guanine always pairs with cytosine and adenine with thymine.
Read the original:
(CNN) -
All of life as we know it on Earth -- pigs, pandas, fish, bacteria and everything else -- has genetic information encoded in the same way, with the same biological alphabet.
Now, for the first time, scientists have shown it is possible to alter that alphabet and still have a living organism that passes on the genetic information. They reported their findings in the journal Nature.
"This is the first experimental demonstration that life can exist with information that's not coded the way nature does (it)," said Floyd Romesberg, associate professor of chemistry at the Scripps Research Institute in La Jolla, California.
Medicine can greatly benefit from this discovery, Romesberg said. There's potential for better antibiotics and treatments for a slew of diseases for which drug development has been challenging, including cancers.
The findings also suggest that DNA as we know it on Earth may not be the only solution to coding for life, Romesberg said. There may be other organisms elsewhere in space that use genetic letters we have never seen -- or that don't use DNA at all.
"Is this alien life? No," he said. "Does it suggest that there could be other ways of storing information? Yes."
How they did it
For their genetic experiments, Romesberg and colleagues used molecules, called X and Y, that are completely different from the four building blocks of DNA.
Normally, the genetic code consists of four nucleotide bases: adenine (A), cytosine (C), guanine (G) and thymine (T). In DNA, guanine always pairs with cytosine and adenine with thymine.
More:
A scientific breakthrough has expanded the way genetic information can be stored.
STORY HIGHLIGHTS
(CNN) -- All of life as we know it on Earth -- pigs, pandas, fish, bacteria and everything else -- has genetic information encoded in the same way, with the same biological alphabet.
Now, for the first time, scientists have shown it is possible to alter that alphabet and still have a living organism that passes on the genetic information. They reported their findings in the journal Nature.
"This is the first experimental demonstration that life can exist with information that's not coded the way nature does (it)," said Floyd Romesberg, associate professor of chemistry at the Scripps Research Institute in La Jolla, California.
Medicine can greatly benefit from this discovery, Romesberg said. There's potential for better antibiotics and treatments for a slew of diseases for which drug development has been challenging, including cancers.
The findings also suggest that DNA as we know it on Earth may not be the only solution to coding for life, Romesberg said. There may be other organisms elsewhere in space that use genetic letters we have never seen -- or that don't use DNA at all.
"Is this alien life? No," he said. "Does it suggest that there could be other ways of storing information? Yes."
How they did it
For their genetic experiments, Romesberg and colleagues used molecules, called X and Y, that are completely different from the four building blocks of DNA.
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PUBLIC RELEASE DATE:
8-May-2014
Contact: John Wallace wallacej@vcu.edu 804-628-1550 Virginia Commonwealth University
Mutations in the BRCA1 and BRCA2 genes account for nearly 25 percent of hereditary breast cancers and most hereditary ovarian cancers, yet a study by cancer prevention and control researchers at Virginia Commonwealth University Massey Cancer Center suggests an alarmingly small amount of women who qualify for BRCA genetic counseling actually receive the services. Additionally, they found that a significant proportion of women with a family history of breast and ovarian cancer underestimate their own risk.
The study, published in the April edition of the Journal of Community Genetics, collected data from 486 women over the course of two years. Of these women, 22 met the criteria to be referred for BRCA counseling. However, only one of the women reported receiving genetic counseling and only one reported prior genetic testing. And while perceived risk of developing breast and ovarian cancer was higher among high-risk women, 27 percent of high-risk women felt their risk was "low," and 32 percent felt their risk was "lower than average." Despite having a diverse population, the researchers did not find any significant differences associated with factors such as age, race, family size or the patient's knowledge of genetic testing.
"Despite recommendations from the United States Preventive Services Task Force that primary care physicians screen for hereditary cancer risk, it seems that too few women who meet the eligibility criteria are actually following through with BRCA counseling services," says the study's lead investigator John Quillin, Ph.D., M.P.H., member of the Cancer Prevention and Control research program and genetic counselor in the Familial Cancer Clinic at Virginia Commonwealth University Massey Cancer Center and assistant professor in the Department of Human and Molecular Genetics in the VCU School of Medicine. "Unfortunately, this means that a significant number of women who are at high-risk for developing breast and ovarian cancer may not be taking advantage of preventive measures that could ultimately save their lives."
The researchers analyzed data from a pilot study called Kin Fact (Keeping Information about Family Cancer Tune-up) that was conducted at the VCU Women's Health Clinic. Kin Fact works by having a clinical research associate intervene during a woman's annual gynecology appointment to discuss the patient's genetic cancer risks. Participants were asked to complete a self-administered survey that asked questions about their knowledge of genetic counseling and their perceived cancer risk. After completing the survey, the study's recruiters obtained information about the patient's hereditary cancer risks by noting all breast and ovarian cancers among first-and second-degree relatives. The researchers' goals were to assess the amount of women eligible for BRCA counseling in a primary care setting, explore associations between high-risk status and characteristics such as age, race and genetic literacy, and determine whether high-risk patients received genetic counseling and/or testing.
"We need to examine whether patients are fully aware of their family history, and if there are ways to optimize family history collection in clinical settings," says Quillin. "This will help determine if educational interventions are needed for providers, patients or both."
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Quillin collaborated on this study with Alexander H. Krist, M.D., M.P.H., assistant professor in the Department of Family Medicine and Population Health at the VCU School of Medicine and member of the Cancer Prevention and Control research program at Massey; Maria Gyure, M.S., C.G.C., research coordinator and genetic counselor in the Department of Human and Molecular Genetics at the VCU School of Medicine; Rosalie Corona, Ph.D., L.C.P., associate professor of health psychology and clinical psychology in the VCU Department of Psychology and founding director of the VCU Latino Mental Health Clinic; Vivian Rodriguez, graduate student in the VCU Department of Psychology; Joseph Borzelleca, Jr., M.D., M.P.H., emeritus professor in the VCU Department of Pharmacology and Toxicology; and Joann N. Bodurtha, M.D., M.P.H., professor of pediatrics and oncology at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University.
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Few women at high-risk for hereditary breast and ovarian cancer receive genetic counseling
PUBLIC RELEASE DATE:
5-May-2014
Contact: Sid Dinsay sid.dinsay@mountsinai.org 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine
In the largest family study on autism spectrum disorder (ASD) to date, researchers from the Icahn School of Medicine at Mount Sinai, along with a research team from the Karolinska Institutet in Stockholm Sweden and King's College in London found that individual risk of ASD and autistic disorder increased with greater genetic relatedness in families that is, persons with a sibling, half-sibling or cousin diagnosed with autism have an increased likelihood of developing ASD themselves. Furthermore, the research findings showed that "environmental" factors unique to the individual (birth complications, maternal infections, etc.) were more of a determinant for ASD than previously believed.
The population-based, longitudinal study, titled "The Familial Risk of Autism," was led by Abraham Reichenberg, PhD, Professor of Psychiatry and Preventive Medicine at the Icahn School of Medicine at Mount Sinai, and was first published online in the Journal of the American Medical Association.
"The findings from this extensive, prospective study will help improve how we counsel families with children who suffer from ASD and autistic disorder," said Dr. Reichenberg. "Currently, ASD affects nearly one percent of all children born in the United States. This study tells us that while we continue to study the genetic risk factors associated with ASD, we should find what environmental factors may play a role as well."
ASD is defined as impairment in social interaction and communication and the presence of restricted interests and repetitive behaviors; in the U.S., approximately one percent of the population is believed to have ASD. For purposes of this study, ASD included the definition for Asperger syndrome.
The study cohort comprised more than two million Swedish children born in 1982 through 2006, and included more than 1.6 million unique families. The breadth of this study allowed researchers the opportunity to examine a large spectrum of relatedness, including monozygotic (identical) and dizygotic (fraternal) twins; full siblings; maternal and paternal half siblings; and cousins. Single-child families were excluded from this study.
Researchers studied the relative recurrence risk, or RRR, for autism spectrum disorder and autistic disorder in these families and used it to determine heritability. Recurrence risk expresses the risk of having another affected family member in an already-affected family that is, the likelihood of a person in a family to be diagnosed with ASD if they have a sibling or cousin with autism spectrum disorder. RRR measures this recurrence in relation to disease in families without any affected members.
In calculating RRR for the different genetic relations, the researchers found that the closer the genetic relatedness, the greater the risk a sibling or cousin would also be diagnosed. Monozygotic twins had the highest adjusted RRR for ASD (estimated to be 153 times more likely to develop ASD); followed by full siblings (10.3 times), dizygotic twins (8.2), maternal half-siblings (3.3), paternal half-siblings (2.9) and cousins (2.0). Similar, if slightly higher, adjusted RRRs are found for autistic disorder: monozygotic twins (116.8), dizygotic twins (16.9), full siblings (14.6), maternal half-siblings (4.3), paternal half-siblings (2.9), and cousins (2.3).
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Genetic, environmental influences equally important risk for autism spectrum disorder