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Archive for category: E-News

E-News

A new piece of the typhoid ‘puzzle’

, 26 August 2020/in E-News /by 3wmedia

In October 2016, researchers at the Aga Khan University’s microbiology laboratory spotted a number of unusual organisms in blood samples from Hyderabad. Blood culture tests from the city contained a novel strain of typhoid that had developed resistance to an unprecedented range of antibiotics.
Over the next few months, several similar cases were detected from the city pointing to an outbreak of a form of the disease that would be especially difficult to treat. 
The research team, led by Pofessor Rumina Hasan, acted quickly to alert local government, the National Institutes of Health and the World Health Organization to this development. They also contacted the UK-based Wellcome Sanger Institute to explore the genetic cause behind the emergence of this extensively drug-resistant (XDR) typhoid strain.
“This was the world’s first outbreak of XDR typhoid,” said Professor Zahra Hasan of the department of pathology and laboratory medicine. “Understanding this new threat required high-level genome sequencing which would enable us to analyse the molecular blueprint of this new form of typhoid.”
Over the next six months, the research team collaborated with experts at the Wellcome Sanger Institute to jointly analyse over 100 DNA samples which resulted in a striking finding. The typhoid bacteria had acquired a DNA molecule through a plasmid from a bacterium commonly found in contaminated water and food, making it resistant to the majority of available medications .  
“We used to think that we had a complete picture of the typhoid ‘puzzle’,” said Dr Sadia Shakoor, assistant professor in pathology and laboratory medicine at AKU. “Together with our partners, we’ve found a missing piece that affects how we diagnose and treat the most complex strains of the disease.”   
Since patients with XDR typhoid do not respond to commonly prescribed antibiotics, blood culture tests have become an even more important tool for physicians, according to Dr Shakoor. Not only do these tests enable early detection but they also highlight the type of typhoid being tackled that affects the choice of antibiotic.
“There are currently three antibiotics available to treat XDR typhoid,” Dr Shakoor stated. “These drugs are expensive and we must only prescribe them when needed. Otherwise, bacteria could develop resistance to the only medications we have left.”
Beyond resistance, researchers also warn of the risk of the disease spreading since every patient is a potential ‘disease carrier’. The likelihood of the proliferation of the disease is especially high in developing countries where poor sanitation facilities result in the contamination of drinking water with sewage containing the typhoid bacteria.
Aga Khan Universitywww.aku.edu/news/Pages/News_Details.aspx?nid=NEWS-001521

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Researchers identify new genes associated with cognitive ability

, 26 August 2020/in E-News /by 3wmedia

Investigators at The Feinstein Institute for Medical Research discovered dozens of new genetic variations associated with a person’s general cognitive ability. The findings have the potential to help researchers develop more targeted treatment for cognitive and memory disorders.
“For the first time, we were able to use genetic information to point us towards specific drugs that might aid in cognitive disorders of the brain, including Alzheimer’s disease, schizophrenia and attention deficit hyperactivity disorder,” said Todd Lencz, PhD, senior author of the study and professor at the Feinstein Institute and the Donald and Barbara Zucker School of Medicine at Hofstra/Northwell.  
In the largest peer-reviewed study of its kind, an international team of 65 scientists, led by Dr. Lencz, studied the genomes of more than 100,000 individuals who had their brain function measured by neuropsychological tests. These data were then combined with genomes from 300,000 people measured for the highest level of education achieved, which serves as an estimate for cognitive ability, or how the brain acquires knowledge.
While profiling cognitive ability, researchers also discovered a genetic overlap with longevity. They found when examining an individual’s family that a genetic predisposition towards higher cognitive ability was associated with longer lifespan. A new genetic overlap between cognitive ability and risk for autoimmune disease was also identified.
This study appears less than a year after Dr. Lencz and his colleagues published a similar, smaller study that was only able to identify a few key genes associated with cognitive ability.
“The field of genomics is growing by leaps and bounds,” Dr. Lencz said. “Because the number of genes we can discover is a direct function of the sample size available, further research with additional samples is likely to provide even more insight into how our genes play a role in cognitive ability.”
Feinstein Institute – Northwell Healthhttps://tinyurl.com/y8649b9o

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A blood test determines when it is safe to return to play after concussion

, 26 August 2020/in E-News /by 3wmedia

A high-sensitive blood test can aid concussed hockey players when it might be safe to return to play. In a study, researchers at Sahlgrenska Academy has identified a superior blood-based biomarker for assessing subtle brain injury.
"This could serve as an objective test a long side clinical evaluation to whether a player is fit to return to playing. Currently, we lack an objective test like this", says Dr. Pashtun Shahim, lead author of the article.
The study entails yet another step forward in the research that has been carried out in Gothenburg for several years, with focus on sports-related concussions. This time it included all Swedish ice hockey teams that played in the highest division on the men’s side, SHL, during three seasons 2012-2015. Hockey clubs from Luleå HF in the north of Sweden to Rögle BK in the south were involved in the work.
In total, 288 players were included, of which 105 suffered a concussion during the seasons in question. From 87 of these players, blood samples were taken 1, 12, 36 and 144 hours (six days) after the concussion. A fifth sample was taken at the time when the person was determined fit to return to unrestricted competition.
The purpose of the study was to compare concentrations in the blood of known biomarkers for concussion, both directly after the event and over a period of time. The results show that it was the levels of the protein neurofilament light (NfL) that had the clearest connection to the severity of concussion, measured as the number of days it took for players to return to play.
"The strength of this study is that we longitudinally followed how these biomarkers are released and cleared from the blood. What we observed was that NfL was released within an hour after the concussion, and then it increased over time in players who had prolonged symptoms", Pashtun Shahim explains.
The levels of the other biomarkers that were studied (tau, S100B and neuron-specific enolase, NSE) decreased quickly and could thereby not indicate how injured the players were after 7-10 days, a time point many players returned to play in the study.
"Currently the duration of players’ symptoms determines when it is safe to play again. The finding that serum NfL concentrations correlate with the duration of post-concussive symptoms or return to play, implicates that serum NfL might serve as an objective test of when it is safe to return to play. It is important to protect the players from developing long-term symptoms by avoiding premature return to play. Suffering additional concussion, especially when the current post-concussion symptoms are not fully resolved might have long-term consequences", says Pashtun Shahim.
"There is no need for a biomarker in order to make a diagnosis of concussion, it is a clinical diagnosis that is based on the patient’s symptoms", he continues. "What we are really after is a prognostic biomarker that helps the physicians determine which players or patients might be at increased risk of developing persistent post-concussive symptoms, and thereby adjust the level of rest and care for these players."

University of Gothenburgwww.gu.se/english/about_the_university/news-calendar/News_detail//a-high-sensitive-blood-test-when-it-is-safe-to-return-to-play-after-a-sports-related-concussion.cid1564034

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New assay may help predict which pancreatic lesions may become cancerous

, 26 August 2020/in E-News /by 3wmedia

A report describes a new simple molecular test to detect chromosomal abnormalities — biomarkers known as telomere fusions–in pancreatic tumour specimens and pancreatic cyst fluids. This assay may help predict the presence of high-grade or invasive pancreatic cancers requiring surgical intervention.
More sophisticated imaging of the pancreas has led to increased detection of presymptomatic lesions. The detection of telomere fusions has the potential to help physicians determine whether these lesions have a high likelihood of developing into pancreatic cancer requiring surgical resection or are more likely to be benign and can be followed by “watchful waiting.”
“Clinicians rely on international consensus guidelines to help manage patients with pancreatic cancer precursor lesions such as intraductal papillary mucinous neoplasms (IPMNs). These guidelines are useful but pancreatic imaging does not provide sufficient information about the neoplastic nature of a pancreatic cyst. Better characterization of pancreatic cysts could allow more patients with worrisome cysts to continue with surveillance, avoiding the morbidity and risks related to pancreatic surgery,” explained Michael Goggins, MD, Sol Goldman Professor of Pancreatic Cancer Research, Departments of Pathology, Surgery, and Oncology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine (Baltimore).
Telomeres are regions of repetitive nucleotide sequences found at the ends of chromosomes that, under normal circumstances, keep the chromosome intact. When telomeres lose most or all of their telomere repeat sequences, the ends can fuse, leading to cell death or chromosomal instability. “This is a major mechanism that contributes to the progression of many precancerous neoplasms to invasive cancers,” said Dr. Goggins. “Telomere fusions can serve as a marker for predicting the presence of high-grade dysplasia and/or invasive cancer.”
In this report, investigators describe a PCR-based assay to detect telomere fusions in samples of pancreatic tumour or cyst fluid. The assay incorporates two rounds of PCR with the second round using a telomere repeat probe to detect the fusions.
The researchers analysed tissues from IPMN tumour samples taken from patients undergoing resection, surgical cyst fluid samples, and normal pancreas. IPMNs are the most common type of pancreatic neoplastic cysts. They are characterized by the papillary proliferation of mucin-producing epithelial cells and cystic dilatation of the main or branch pancreatic duct.
This telomere fusion assay was able to identify telomere fusions in more than half of the pancreatic cell lines. Telomere fusions were often detected in tumours with high-grade dysplasia (containing more abnormal cells). Telomere fusions were not found in normal pancreas or samples with low-grade dysplasia.
Similar findings were seen in analyses of cyst fluid, in which the presence of telomere fusions raised the likelihood of high-grade dysplasia or invasive cancer six fold. The telomere fusion events were found to be associated with high telomerase activity (an enzyme that lengthens telomeres) and shortened telomere length.
“We have developed a simple molecular test to detect telomere fusions. This telomere fusion detection assay is a cheaper method for evaluating pancreatic cyst fluid than many next-generation sequencing approaches that are being evaluated for this purpose,” noted Dr. Goggins.
“The authors succeed in showing the presence of shortened telomeres, sporadic telomeric fusions, and increased telomerase activity in a modest proportion of pancreatic lesions,” commented Loren Joseph, MD, of the Department of Pathology at Beth Israel Deaconess Medical Center, Harvard Medical School (Boston), in an accompanying editorial. He added that the techniques used to detect fusions from cyst DNA and to measure telomere length and telomerase activity are within the scope of many molecular diagnostic laboratories.
Science Articleshttps://tinyurl.com/y9mse347

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Sperm RNA may serve as biomarkers of future health

, 26 August 2020/in E-News /by 3wmedia

Human sperm may hold the potential to serve as biomarkers of the future health of newborn infants, according to a new study by a Wayne State University School of Medicine research team.
The study, “Sperm RNA elements as markers of health,” from the lab of Stephen Krawetz, Ph.D., the Charlotte B. Failing Professor of Fetal Therapy and Diagnosis in the WSU Department of Obstetrics and Gynecology and Center for Molecular Medicine and Genetics, indicates that RNA found in male sperm not only shows promise as a determinant in successful live birth, it may also tell us more about the health of a child as it matures.
“We explored the opportunity of using sperm RNA elements as a predictor of human health, with applications at the fertility clinic that would go hand-in-hand with the new neonatal intensive care unit genome sequencing to better health outcomes,” said Dr. Krawetz, associate director of the C.S. Mott Center for Human Growth and Development. “This leaves the intriguing possibility that, while sperm RNAs delivered to the egg inform the success of live birth, they may also open a pathway to understanding the birth and potential health of each child.
At fertilization, sperm delivers a structurally distinct genome, along with a complement of ribonucleic acids, or RNAs, and proteins to the immature egg cell. To test the hypothesis, sperm RNA elements corresponding to specific genes were characterized as a function of disease association. Dr. Krawetz’s team surveyed a total of 278,605 sperm RNA elements called short exon-sized sequences, or SREs, associated with diseases. This functional association of SREs may indicate a future phenotype, providing improved understanding of the father’s contribution to the life course of the child as well as the current state of paternal health.
In the future, if those SREs that are mutated or modified can be identified, researchers and physicians may be able to not only forecast disease or conditions, but develop ways to prevent them.
Wayne State University
www.med.wayne.edu/news/2017/12/01/sperm-rna-may-serve-as-biomarkers-of-future-health-wsu-researchers-find/

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Blood test for pregnant women can predict premature birth

, 26 August 2020/in E-News /by 3wmedia

A new blood test for pregnant women detects with 75-80 percent accuracy whether their pregnancies will end in premature birth. The technique can also be used to estimate a foetus’s gestational age — or the mother’s due date — as reliably as and less expensively than ultrasound.
Developed by a team of scientists led by researchers at Stanford University, the tests could help reduce problems related to premature birth, which affects 15 million infants worldwide each year. Until now, doctors have lacked a reliable way to predict whether pregnancies will end prematurely, and have struggled to accurately predict delivery dates for all types of pregnancies, especially in low-resource settings.
Stephen Quake, PhD, professor of bioengineering and of applied physics at Stanford, shares senior authorship with Mads Melbye, MD, visiting professor of medicine. The lead authors are former Stanford postdoctoral scholar Thuy Ngo, PhD, and Stanford graduate student Mira Moufarrej.
The tests measure the activity of maternal, placental and foetal genes by assessing maternal blood levels of cell-free RNA, tiny bits of the messenger molecule that carry the body’s genetic instructions to its protein-making factories. The team used blood samples collected during pregnancy to identify which genes gave reliable signals about gestational age and prematurity risk.
“We found that a handful of genes are very highly predictive of which women are at risk for preterm delivery,” said Melbye, who is also president and CEO of the Statens Serum Institute in Copenhagen. “I’ve spent a lot of time over the years working to understand preterm delivery. This is the first real, significant scientific progress on this problem in a long time.”
The gestational-age test was developed by studying a cohort of 31 Danish women who gave blood weekly throughout their pregnancies. The women all had full-term pregnancies. The scientists used blood samples from 21 of them to build a statistical model, which identified nine cell-free RNAs produced by the placenta that predict gestational age, and validated the model using samples from the remaining 10 women. The estimates of gestational age given by the model were accurate about 45 percent of the time, which is comparable to 48 percent accuracy for first-trimester ultrasound estimates.
This is the first real, significant scientific progress on this problem in a long time.
Measuring cell-free RNA in mothers’ blood also could provide a wealth of new information about foetal growth, Ngo said. “This gives a super-high resolution view of pregnancy and human development that no one’s ever seen before,” she said. “It tells us a lot about human development in normal pregnancy.”
To figure out how to predict preterm birth, the researchers used blood samples from 38 American women who were at risk for premature delivery because they had already had early contractions or had given birth to a preterm baby before. These women each gave one blood sample during the second or third trimester of their pregnancies. Of this group, 13 delivered prematurely, and the remaining 25 delivered at term. The scientists found that levels of cell-free RNA from seven genes from the mother and the placenta could predict which pregnancies would end early.
“It’s mostly maternal genes,” Moufarrej said, noting that the genes that predict prematurity are different than those that give information about gestational age. “We think it’s mom sending a signal that she’s ready to pull the ripcord.”
The scientists need to validate the new tests in larger cohorts of pregnant women before they can be made available for widespread use.
The biological mechanism behind preterm birth is still a mystery, but the scientists plan to investigate the roles of the genes that signal prematurity to better understand why it happens. They also hope to identify targets for drugs that could delay premature birth.
Other Stanford authors of the paper are graduate student Keli Liu; postdoctoral scholar Joan Camunas-Soler, PhD; research affiliates Wenying Pan, PhD, Jennifer Okamoto and Norma Neff, PhD; senior research scientist Ronald Wong; Robert Tibshirani, PhD, professor of biomedical data science and of statistics; Gary Shaw, DrPH, professor of pediatrics; and David Stevenson, MD, professor of pediatrics.
This gives a super-high resolution view of pregnancy and human development
Scientists from the Statens Serum Institute in Copenhagen, the University of Pennsylvania School of Medicine and the University of Alabama-Birmingham also contributed to the study.
Quake, Tibshirani, Shaw and Stevenson are members of Stanford Bio-X; Tibshirani, Shaw and Stevenson are members of the Stanford Child Health Research Institute; Quake and Tibshirani are members of the Stanford Cancer Institute; Stevenson is an affiliate of the Stanford Woods Institute for the Environment; and Quake is a member of the Stanford Cardiovascular Institute, Stanford ChHEM-H and the Stanford Neurosciences Institute.
The research was funded by the Bill and Melinda Gates Foundation, the March of Dimes Prematurity Research Center at Stanford University, the March of Dimes Prematurity Initiative Grant at the University of Pennsylvania and the Chan Zuckerberg Biohub, of which Quake is co-president.
The Chan Zuckerberg Biohub has submitted a patent application for the new technology.
Stanford’s departments of Bioengineering, Applied Physics and Pediatrics also supported the work. The Department of Bioengineering is jointly operated by the schools of Medicine and of Engineering.

Stanford Medicine
med.stanford.edu/news/all-news/2018/06/blood-test-for-pregnant-women-can-predict-premature-birth.html

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Machine learning finds tumour gene variants and sensitivity to drugs

, 26 August 2020/in E-News /by 3wmedia

Matching unique genetic information from cancer patients’ tumours with treatment options – an emerging area of precision medicine efforts – often fails to identify all patients who may respond to certain therapies. Other molecular information from patients may reveal these so-called “hidden responders,” according to a Penn Medicine.
“Targeted sequencing can find individuals with certain mutations that are thought to confer susceptibility to anti-cancer drugs,” said senior author Casey Greene, PhD, an assistant professor of Pharmacology in the Perelman School of Medicine at the University of Pennsylvania. “But many people may lack these mutations, and as machine learning approaches improve they may help guide these patients to appropriate therapies.
”Greene and first author and doctoral student Gregory P. Way used machine learning to classify abnormal protein activity in tumours. This branch of artificial intelligence develops computer programs that can use new data to learn and make predictions. The algorithm they devised to search TCGA integrates genetic data from 33 different cancer types. Greene and Way used information from the transcriptome, the grand total of all messenger RNAs expressed within an individual.
They specifically applied their model to the Ras pathway, a family of genes that make proteins that govern cell replication and death. Changes in the normal function of Ras proteins – mutations which are responsible for 30 percent of all cancers – can power cancer cells to grow and spread. These mutations are often referred to as the “undruggable Ras,” having beaten back a variety of investigational inhibitor drugs and vaccine-based therapies.
“This model was trained on genetic data from human tumours in The Cancer Genome Atlas and was able to predict response to certain inhibitors that affect cancers with overactive Ras signalling in an encyclopaedia of cancer cell lines,” Greene said. The upshot is that the transcriptome is underused in bringing precision to oncology, but when combined with machine learning it can aid in identifying potential hidden responders.
The Penn team collaborated with co-author Yolanda Sanchez, PhD, a cancer biologist from the Geisel School of Medicine at Dartmouth College. They are working together to mesh her identification of compounds that target tumors with runaway Ras activity and tumour data (analysed by machine learning) to find patients who could benefit from these potential cancer drugs.
“For precision medicine to benefit individuals in real time, we must develop robust models to efficiently test efficacy of potential therapies,” Sanchez said. “We can use this very powerful combined approach of machine learning-guided drug discovery using Avatars, which are mice carrying identical copies of a patient’s tumors. The Avatars allow our interdisciplinary team to identify the tumours with runaway Ras activity and evaluate and compare multiple therapies in real time.”
Penn Medicinewww.pennmedicine.org/news/news-releases/2018/april/seeking-hidden-responders-machine-learning

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Siemens Healthineers has announced closing of Fast Track Diagnostics acquisition

, 26 August 2020/in E-News /by 3wmedia

Siemens Healthineers confirmed on January 10, 2018 that it has completed its acquisition of Fast Track Diagnostics (FTD). The closing of the deal occurred on December 19, 2017, expanding the Siemens Healthineers molecular diagnostics portfolio and underscoring the company’s commitment to this designated growth area. Terms of the agreement were not disclosed.

FTD’s broad range of CE-marked infectious disease detection tests and syndromic panels expands the Siemens Healthineers menu of assays for its VERSANT® kPCR Molecular System by over 85 assays and syndromic panels, transforming care delivery for its customers with a comprehensive solution for molecular testing of infectious diseases such as respiratory infections, gastroenteritis, meningitis, hepatitis, infections of the immunosuppressed, tropical diseases, sexually transmitted diseases, and early childhood diseases. In addition, FTD’s platform-agnostic menu allows Siemens Healthineers to effectively serve a broader customer base.

“The closing of this deal enables both Siemens Healthineers and FTD—now joined as one—to more effectively address the evolving needs of the molecular diagnostics marketplace,” says Fernando Beils, Head of Molecular Diagnostics, Siemens Healthineers. “It is an exciting time for us at Siemens Healthineers as we welcome the FTD community into our own.”

FTD will continue to operate under the brand name Fast Track Diagnostics throughout the world.

www.siemens.com/healthineers
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Leukaemia: protective role of Y chromosone gene discovered

, 26 August 2020/in E-News /by 3wmedia

Researchers have found that UTY, a gene on the Y chromosome, protects male mice lacking the tumour-suppressing UTX gene on the X chromosome from developing acute myeloid leukaemia
Researchers at the Wellcome Sanger Institute and the University of Cambridge found that this Y-chromosome gene protects against the development of Acute Myeloid Leukaemia (AML) and other cancers.
The study investigated how loss of the X-chromosome gene UTX, which is known to be mutated in many tumours, hastens the development of AML. However, they found that UTY, a related gene on the Y chromosome, protected male mice lacking UTX from developing AML. The authors then show that in AML and in several other human cancers types, loss of UTX is accompanied by loss of UTY, confirming that the cancer-suppressing role of UTY extends beyond AML.
Acute myeloid leukaemia is an aggressive blood cancer that affects people of all ages. It develops in cells in the bone marrow and leads to life-threatening infections and bleeding. Mainstream AML treatments have remained unchanged for decades.
Women have two X chromosomes whereas men have one X and one Y chromosome. The X and Y chromosomes share many genes, but a small number of genes, including UTY, are only found on the Y chromosome. These Y-specific genes were thought to contain the genetic information required for male sexual characteristics, but were not known to have other roles. The discovery of this new role changes the way the Y chromosome is viewed and improves understanding of how AML and other cancers develop.

“This is the first Y chromosome-specific gene that protects against AML. Previously it had been suggested that the only function of the Y chromosome is in creating male sexual characteristics, but our results indicate that the Y chromosome could also protect against AML and other cancers.”
Dr Malgorzata Gozdecka, the first author on the study from the Wellcome Sanger Institute

“It is known that men often lose the Y chromosome from their cells as they age, however the significance of this was unclear. Our study strengthens the argument that loss of the Y chromosome can increase the risk of cancer and describes a mechanism for how this may happen.”
Professor Brian Huntly, joint project leader from the Wellcome-MRC Cambridge Stem Cell Institute, and Consultant Haematologist, at Cambridge University Hospitals NHS Trust

In their study, researchers studied the UTX gene in human cells and in mice to try to understand its role in AML. In addition to their discovery that UTY acts as a tumour suppressor gene, the scientists found a new mechanism for how loss of UTX leads to AML. They discovered that UTX acts as a common scaffold, bringing together a large number of regulatory proteins that control access to DNA and gene expression, a function that can also be carried out by UTY. When UTX/UTY are missing, these proteins can’t regulate gene expression correctly and cancer growth becomes more likely.

“Treatments for AML have not changed in decades and there is a large unmet need for new therapies. This study helps us understand the development of AML and gives us clues for developing new drug targets to disrupt leukaemia-causing processes. We hope this study will enable new lines of research for the development of previously unforeseen treatments and improve the lives of patients with AML.”
Dr George Vassiliou, joint project leader from the Wellcome Sanger Institute, Wellcome-MRC Cambridge Stem Cell Institute and Consultant Haematologist at Cambridge University Hospitals NHS Trust.

“Survival rates for AML remain tragically low, with current treatment that involves intensive chemotherapy, often combined with a stem cell transplant, only curing a small proportion of patients. This important research helps build a fuller picture of what goes wrong genetically as this highly aggressive leukaemia develops. Understanding this process is key to developing targeted drugs for AML, allowing us to move away from gruelling and often ineffective chemotherapy-based treatments.”

Wellcome Sanger Institutewww.sanger.ac.uk/news/view/leukaemia-protective-role-y-chromosone-gene-discovered

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Three new genetic markers associated with risk for depression

, 26 August 2020/in E-News /by 3wmedia

After becoming the first to definitively discover genetic markers for major depression, researchers at Virginia Commonwealth University and collaborators have found more genetic clues to the disease.
A study details the discovery of three additional genetic risk markers for depression, which builds on the ground breaking discovery of two genetic risk factors in 2015. Lead authors include Roseann Peterson, Ph.D., an assistant professor of psychiatry at the VCU Virginia Institute for Psychiatric and Behavioral Genetics, and Na Cai of the European Bioinformatics Institute and the Wellcome Sanger Institute in the United Kingdom.
Initially, the researchers were able to isolate changes in DNA that increase risk for major depression. The most recent findings take this a step further by determining that the additional genetic markers are relevant to the disease in a subset of people who have not experienced extreme adversity.
Kendler, M.D., professor of psychiatry and human molecular genetics in the Department of Psychiatry in the School of Medicine, and one of five VCU faculty authors, said the work could shed more light on subtypes of depression and their treatment.
 “We have struggled for years using twin and family studies to try to understand how genes and environment interrelate in causing depression,” Kendler said. “This is the first study where we have been able to do this using molecular variants. This is an important advance in our understanding of this important, severe and common psychiatric disorder.”
The researchers collected information on environmental adversity measures from their subjects. Environmental adversity includes experiences of extreme stressful life events such as childhood sexual and physical abuse. Observing groups who were adversity exposed and non-adversity exposed allowed researchers to account for diverse causes of depression, or the disease’s etiological heterogeneity, in determining genetic causes, Peterson said.
“Identifying genetic risk variants for major depressive disorder has been difficult, likely due to associated clinical and etiological heterogeneity,” Peterson said. “Here, we highlight individual differences in clinical presentation and the importance of collecting symptom level data to tackle clinical and etiological heterogeneity in complex psychiatric traits.”
Peterson said the ultimate goal is to identify high-risk individuals for early intervention and personalized medicine. Cai said the discovery could lead to additional findings on potential links between metabolism and depression. 
“Some of the genes implicated by variants we found to be associated with depression are involved in mitochondrial function and metabolism,” Cai said. “So, one potential direction for future research is to try to understand the link between depression and metabolism.”
Virginia Commonwealth Universitynews.vcu.edu/article/Three_new_genetic_markers_associated_with_risk_for_depression

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Hastelweg 250
5652 CN Eindhoven
The Netherlands
+31 85064 55 82
info@clinlabint.com

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