Category Archives: Genetics

Genetics

Study mines cancer genetics to help with targeted treatment – ABC News

Scientists from the United Kingdom have analyzed the full genetic blueprints of more than 18,000 cancer samples, finding new patterns of mutations that could help doctors provide better, more personalized treatment

By LAURA UNGAR AP Science Writer

April 21, 2022, 6:02 PM

3 min read

Scientists have analyzed the full genetic blueprints of more than 18,000 cancer samples, finding new patterns of mutations that could help doctors provide better, more personalized treatment.

Their study, published Thursday in the journal Science, isnt the first to do such comprehensive whole genome analyses of cancer samples. But no one has ever done so many.

This is the largest cohort in the world. It is extraordinary, said Serena Nik-Zainal of the University of Cambridge, who was part of the team.

Just over 12,200 surgical specimens came from patients recruited from the U.K. National Health Service as part of a project to study whole genomes from people with common cancers and rare diseases. The rest came from existing cancer data sets.

Researchers were able to analyze such a large number because of the same improvements in genetic sequencing technology that recently allowed scientists to finally finish decoding the entire human genome more capable, accurate machines.

We can really begin to tease out the underpinnings of the erosive sort of forces that go to sort of generate cancer," said Andrew Futreal, a genomic medicine expert at MD Anderson Cancer Center in Houston who was not involved in the study.

Cancer is a disease of the genome, or full set of instructions for running cells, that occurs when changes in a persons DNA cause cells to grow and divide uncontrollably. In 2020, there were about 19 million new cancer cases worldwide.

For the study, researchers looked at 19 different types breast, colorectal, prostate, brain and others and identified 58 new clues to the causes of cancer called mutational signatures" that contribute to the development of the disease. They also confirmed 51 of more than 70 previously reported mutation patterns, Nik-Zainal said.

Some arise because of problems within a persons cells; others are sparked by environmental exposures such as ultraviolet radiation, tobacco smoke or chemicals.

Knowing more of them helps us to understand each persons cancer more precisely, which can help guide treatment, Nik-Zainal said.

Genetic sequencing is already being woven into cancer care as part of the growing trend of personalized medicine, or care based on a patients genes and specific disease. Now doctors will have much more information to draw from when they look at individual cancers.

To help doctors use this information, researchers developed a computer algorithm that will allow them to find common mutation patterns and seek out rare ones. Based on a particular pattern, Nik-Zainal said a doctor may suggest a certain course of action, such as getting immunotherapy.

Futreal said the data can also show doctors what tends to happen over time when a patient develops a cancer with a certain mutation pattern helping them intervene earlier and hopefully stop the developing disease in its tracks.

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institutes Department of Science Education. The AP is solely responsible for all content.

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Study mines cancer genetics to help with targeted treatment - ABC News

Genetics

April: genetics-network | News and features – University of Bristol

It has been announced today [19 April] that the University of Bristol will be joining a new MRC national genetics network for disease modelling comprising 7 challenge-led research clusters, with members distributed across the UK.

The MRC National Mouse Genetics Network is a major new 22 million investment in mouse genetics for disease modelling that will capitalise on the UKs excellence in the biomedical sciences.

The Mary Lyon Centre at MRC Harwell will act as the central hub of the Network, sharing access to specialist facilities, resources, data, and training with all other Network members, and is receiving 5.5 million to support this role. The partnerships established by the Network will enable integration of basic science research with clinical findings in order to accelerate our understanding of human disease and translation to patient benefit.

The seven cluster themes are: Cancer, led by Prof Karen Blyth at the CRUK Beatson Institute/University of Glasgow and Prof Louis Chesler at the Institute of Cancer Research, Congenital Anomalies, led by Prof Karen Liu at Kings College London, Degron Tagging, led by Dr Andrew Wood at the MRC Human Genetics Unit at the University of Edinburgh, Haem, led by Dr David Kent at the University of York, Microbiome, led by Prof Fiona Powrie at the University of Oxford, Mitochondria, led by Dr Robert Pitceathly at the UCL Queen Square Institute of Neurology, and MURIDAE (Modalities for Understanding, Recording and Integrating Data Across Early life), led by Prof Anthony Isles at the MRC Centre for Neuropsychiatric Genetics and Genomics at Cardiff University.

Dr Michael Ashby from University of Bristols School of Physiology, Pharmacology & Neuroscience is a member of the MURIDAE (Modalities for Understanding, Recording and Integrating Data Across Early life) cluster. This cluster is receiving 2.7 million of MRC investment, which aims to establish new approaches for studying the early postnatal period in mouse models of neurodevelopmental and neuropsychiatric disease. The key to this will be linking changes in behaviour in early life with changes in brain development through integration of home-cage behavioural monitoring data with measures of brain structure and physiology, all guided by clinical partners to ensure relevance to human disease.

University of Bristol labs will play a key role in testing how brain activity is altered in the next-generation mouse models of neurodevelopmental disorders like schizophrenia and autism. Dr Michael Ashby, who leads Bristols part in the Network, said: Integrating the well-established expertise of Bristol Neuroscience researchers with this new national organisation will not only drive fresh insight into the ways that the young brain is altered in genetically-driven psychiatric disorders, but will also provide a platform for future collaborations for many years to come.

Owen Sansom, Network Director, said: Were excited to announce this first set of research clusters forming the MRC National Mouse Genetics Network and to synergising our efforts to deliver impactful preclinical science through comprehensive sharing of data, resources, and expertise.

By building connections between researchers working in such diverse fields and through development of comprehensive data-sharing infrastructure, the Network will create a platform that better links mouse genetics research to clinical advances.

For more information about each of the clusters, visit the MRC website.

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April: genetics-network | News and features - University of Bristol

Genetics

Familial Hypertension: The Genetics of High Blood Pressure – Healthline

High blood pressure means the force of blood flowing through your arteries is greater than it should be. If not controlled, it could damage your blood vessels and cause other health problems.

High blood pressure (hypertension) tends to be a condition we associate with being too sedentary or getting older. But high blood pressure can also be a genetic condition, affecting people who are otherwise fit and healthy.

A parent with high blood pressure can pass along a gene to a child, raising that persons risk of developing hypertension one day. Familial hypertension may also result from a family lifestyle that includes high blood pressure risk factors, such as smoking or an unhealthy diet.

Blood pressure is the force of circulating blood against the inner wall of your arteries. Its measured in millimeters of mercury (mm Hg) and is presented as two numbers:

According to the American Heart Association, healthy blood pressure is a systolic pressure of less than 120 mm Hg and a diastolic pressure of less than 80 mm Hg. This is a blood pressure of less than 120/80 mm Hg.

If your blood pressure is higher than that, doctors consider you to have elevated blood pressure or stage 1 or 2 hypertension.

Risk factors for high blood pressure include a family history of hypertension, as well as:

What makes high blood pressure so dangerous is that it can exist for a long time without presenting any obvious symptoms. Measuring your blood pressure is the only way to know if you have hypertension.

In extreme cases, when blood pressure exceeds 180/120 mm Hg, you have a medical emergency known as a hypertensive crisis. Symptoms can include:

Research from 2017 suggests that high blood pressure results from a combination of factors, including genetic, environmental, and behavioral components.

Unlike some diseases with only one or a few genes as risk factors, familial hypertension can result from variations in hundreds of different genes, according to a 2019 study of more than 750,000 individuals. This makes it difficult to pinpoint specific genes that could be treatment targets.

The Centers for Disease Control and Prevention (CDC) also notes that families may affect a persons hypertension risk because of the home environment.

Smoking or even breathing in secondhand smoke can raise blood pressure risks. A diet high in sodium and saturated fat may also cause a blood pressure increase. If physical activity and good sleeping habits arent part of a family dynamic, blood pressure can also be negatively affected.

Monogenic hypertension refers to blood pressure caused by one genetic variant inherited from a parent. Monogenic hypertension accounts for about 30 percent of hypertension cases. Most of those are associated with imbalances of electrolytes, such as potassium.

There are several types of monogenic hypertension syndromes, each with a unique set of origins and symptoms. These include:

Knowing about your family medical history is important for many reasons. A history of certain cancers, for example, may determine when you get screened for those cancers. If high blood pressure runs in your family, its important to share this information with your doctor and regularly monitor your blood pressure.

One way to organize information about your family health history, as well as your own, is to use My Family Health Portrait, an online tool created by the National Institutes of Health. You can gather your family medical history, share it with other relatives, and learn about your risk levels for conditions that tend to run in families.

If your blood pressure is currently at a healthy level, you can make several key lifestyle adjustments to lower the odds of it rising too much. If your blood pressure is higher than usual, these steps, along with medications, may help you bring it back down to a healthy range:

The National Heart, Lung, and Blood Institute developed the Dietary Approaches to Stop Hypertension (DASH) eating plan as a heart-healthy eating strategy.

This plan focuses on managing blood pressure by emphasizing fruits, vegetables, whole grains, lean proteins, and sodium reduction. Its also flexible enough to let people enjoy many of their favorite foods.

Sufficient sleep is essential to good overall health, especially for brain and heart function. Blood pressure is especially susceptible to problems related to poor sleep.

A 2022 study suggests that frequent sleep disturbances and short sleep, or less than 5, 6, or 7 hours, can contribute to hypertension.

Taking steps to improve sleep duration and quality may improve more than just your cardiovascular health. It can also improve your mood, concentration, energy, metabolism, and more.

Hypertension is a major risk factor for cardiovascular disease, the leading cause of death in the United States. High blood pressure is also a leading cause of stroke and a risk factor for chronic kidney disease and other health problems.

If your family medical history includes high blood pressure, start taking steps to lower your risk through heart-healthy behaviors. Even if you dont know your family history or dont have a close relative with hypertension, its still important to take steps to keep your blood pressure under control.

Theres a variety of anti-hypertensive medications that can help. But these medications dont take the place of a healthy diet, exercise, and getting plenty of sleep to help maintain a healthy blood pressure.

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Familial Hypertension: The Genetics of High Blood Pressure - Healthline

Genetics

Sidney Altman, Who Stumbled on a Breakthrough in Genetics, Dies at 82 – The New York Times

Sidney Altman was born on May 7, 1939, in Montreal, the second son of Victor and Ray (Arlin) Altman. His mother was a textile worker; his father ran a grocery store.

The family had little money, but Dr. Altman, in an autobiographical sketch for the Nobel Institute, credited his parents with setting a good example that stayed with him for the rest of his life. It was from them, he wrote, that I learned that hard work in stable surroundings could yield rewards, even if only in infinitesimally small increments.

Dr. Altman became fascinated by science as a boy first by news of the detonation of the first atomic bomb, when he was 6 years old, and then by seeing the periodic table of the elements, which, he wrote, gave him a sense of the elegance of scientific theory and its predictive power.

He had intended to enroll at McGill University in his hometown, but he changed course when he was accepted by the Massachusetts Institute of Technology. He studied physics at M.I.T., but in his final semester, out of curiosity, he took an introductory course in molecular biology and found it compelling.

After M.I.T., he spent 18 months in a graduate physics program at Columbia University, but he said he was not really happy there. He wanted to be an experimental scientist and there was no opportunity at Columbia, so he quit and went back to Canada.

The next summer, he was offered a job writing about science for an institute in Boulder, where he could also take summer courses.

One night he wound up at a party talking to George Gamow, a well-known physicist, cosmologist and writer. Dr. Altman explained that he was dissatisfied with physics but fascinated with biophysics. Dr. Gamow suggested that he go to the University of Colorado in Denver, which had a good biophysics department.

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Sidney Altman, Who Stumbled on a Breakthrough in Genetics, Dies at 82 - The New York Times

Genetics

A New Study Found That Conflicts With Your In-Laws Likely Is Due To Genetics – Chip Chick

Struggling to get along with the in-laws has been a phenomenon for centuries. The classic familial conflict has inspired numerous comedy films, self-help books, and ranting Reddit threads.

But, a recent study published in the journal of Evolutionary Psychological Science suggests that the turmoil may be rooted in genetic disposition.

Interestingly, the study first found that both genders experience more conflict with their mothers-in-laws.

In fact, participants reported experiencing five percent more conflict with their mother-in-law than while interacting with their own mothers.

Moreover, most of these disputes involved disagreements over child care or financials.Still, the most intriguing finding relates to the root of these all-too-common quarrels. And the saying mother knows best definitely comes into play.

The research team believes that spouses butt heads with in-laws because people instinctually act in the interest of their genetic kin.

While this might not sound so bad, it can hamper the most universally beneficial decisions and outcomes.

This genetic conflict may cause in-laws to disagree about the distribution of resources and investment, just as we see mothers and fathers disagreeing in these domains, the study reported.

Additionally, these in-law relationships are forced whether they feel that way or not. Much like children have no way of knowing what family they will be born into, spouses and parents alike do not have much say if love is involved.

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A New Study Found That Conflicts With Your In-Laws Likely Is Due To Genetics - Chip Chick

Genetics

Find your roots through genetics camp at Sanford Research – Sanford Health News

What is more interesting than you? Thats the question that led Sanford PROMISE educators to offer a camp called Finding Your Roots.

This camp is modeled from a summer camp that is offered at Penn State of the same name and is inspired by the PBS TV program hosted by Henry Louis Gates Jr. To offer this experience, Sanford PROMISE formed a partnership with Living DNA, a genetic testing company. Living DNA analyzes DNA samples and provides a unique ancestry report for each student.

Apply now: Finding Your Roots genetics and ancestry camp

This genetics and ancestry camp has been offered every summer since 2020 and is a one-of-a-kind experience for students.

The preparations for this camp start in the spring whencampersare given a DNA collection kit from Living DNA. Theysubmita cheek swab and send it in. Parents of the campers willbe requiredto create an account with Living DNA.During camp, students learn about DNA, genetic technology, evolution, and genetic counseling. Theyparticipatein a series of hands-on experiences that allow them tounderstandthe role of DNAin their body. Aftercampersdevelop this understanding, they are presented with a personalized genetic report.

The personalized reportcontainsthree sections. The first is a section on recent ancestry. It presents a pie chartrepresentingwherethe campersancestors came from. The reportprovidesa brief history of each region present in the campers pie chart. For many campers, thisopensconversation with parents and grandparents about the history of their family.The second section reveals thecampers haplogroup.Haplogroupsare mitochondrial DNA sequence variations that have occurred over more than 150,000 years andalign withthegeographic regions of our earliest ancestors through the maternal line. The third section reveals some unique traits like the preference for cilantro or the tendency to have red hair. We compare their genotype (DNA) with their phenotype (physical trait).No health information is shared through this report.

The goal of Finding Your Roots camp is to learn about DNA by making it personal to the campers. The hope is that the campers will come away from camp with an understanding of where they come from, why they are unique, and how they are connected to all of humankind. Throughout the week, campers will work on a poster called All About Me where they assemble all the information they have learned. At the end of the week, they willpresentin a gallery walktoshare the informationwith invited familymembers and guests.

None of this would be possible without the help of our partners at Living DNA. Located in the United Kingdom, Living DNA is one of the top five global DNA testing firms. Unlike other DNA testing firms, Living DNA does not sell data to any third parties. Read more about their privacy policy. They also offer an online portal to provide more information to the campers and their parents, including control over content features.

This camp is offered to middle school aged students one time during the summer and requires a commitment to submit a DNA sample in the spring. Camp is held at the Sanford PROMISE lab at Sanford Research in Sioux Falls, South Dakota. All PROMISE camps require application and have no fee. If you are interested in applying for this camp, please visit promise.sanfordhealth.org for more information.

Posted In Community, Genetics, Research

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Find your roots through genetics camp at Sanford Research - Sanford Health News

Genetics

Armidale researchers hope genetic selection will be key to raising steaks with lower emissions – ABC News

Is it possible to breed low-emissioncattle and sheep?

A group of Australian researchers and industry leaders think so and they are putting $19 million towards making it happen.

The University of New England, Armidale (UNE) is collaborating with Angus Australia, Meat and Livestock Australia and the NSW Department of Primary Industry to develop genetics to breed livestock that emits less methane.

The project is in line with the beef industry's goal to reach zero carbon emissions by 2030.

"We have always been keen to look at measuring the traits related to methane emissions on our cattle so in the future we can select Angus bulls that will produce lower methane but still be productive," Angus Australia's general manager for genetic improvementChristian Duffsaid.

Mr Duff said the organisation's involvement in the project was driven by the consumer.

"There is no doubt there is a trend towards people wanting to be aware of where their product comes from and its impact on the environment.

"The way we can have an impact is by making sure we're recording those methane traits on cattle ... and then in the future having information to select bulls."

UNE researchersare confident that, through the project, they can achieve a steady and permanent reduction in methane emissions from livestock.

Two UNEprofessors will investigate how to improve the genetic make-up of sheep and cattle.

Over the next five years, they will measure the methane output of 8,000 cattle and 10,000 sheep living in both feedlot and grazing conditions.

The variation between different animals will be analysed and data used to predict which of those animals have genetics that may lower the emissions they produce.

Associate Professor Sam Clark willresearchthe beef component, and saidboth projects could result in a 25 per cent reduction in methane emissions in livestock by 2050.

"A plausible amount to expect from genetic technologies is about 1 per cent methane reduction per year,"he said.

"The key point about that 1 per cent per year is that, when we use breeding to make that change, it's cumulative and permanent.

"It's a bit like your interest rate for the bank, it just keeps accumulating on top of itself."

The project is scheduled to start laterthis month.

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Armidale researchers hope genetic selection will be key to raising steaks with lower emissions - ABC News

Genetics

New insights into the genetic etiology of Alzheimer’s disease and related dementias – Nature.com

Universit de Lille, INSERM, CHU Lille, Institut Pasteur Lille, U1167-RID-AGE, Facteurs de risque et dterminants molculaires des maladies lies au vieillissement, Lille, France

Cline Bellenguez,Benjamin Grenier-Boley,Vincent Damotte,Marcos R. Costa,Julien Chapuis,R. Pineda-Snchez,Nathalie Fievet,Hieab Adams,Philippe Amouyel&Jean-Charles Lambert

Complex Genetics of Alzheimers Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium

Fahri Kkali,Christine Van Broeckhoven,Jasper Van Dongen&Kristel Sleegers

Laboratory of Neurogenetics, Institute Born - Bunge, Antwerp, Belgium

Fahri Kkali,Christine Van Broeckhoven,Jasper Van Dongen&Kristel Sleegers

Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium

Fahri Kkali,Jasper Van Dongen&Kristel Sleegers

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands

Iris E. Jansen,Sven J. van der Lee,Henne Holstege,Marc Hulsman,Yolande A. L. Pijnenburg,Philip Scheltens,Niccolo Tes&Wiesje M. van der Flier

Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije University, Amsterdam, the Netherlands

Iris E. Jansen,Danielle Posthuma&Tim Lu

Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Hospital Bonn, Bonn, Germany

Luca Kleineidam,Victor Andrade,Michael T. Heneka,Wolfgang Maier,Anja Schneider,Michael Wagner,Kayenat Parveen,Frank Jessen&Alfredo Ramirez

Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne, Medical Faculty, Cologne, Germany

Luca Kleineidam,Rafael Campos-Martin,Victor Andrade,Maria Carolina Dalmasso,Klaus Fliebach&Alfredo Ramirez

German Center for Neurodegenerative Diseases (DZNE Bonn), Bonn, Germany

Luca Kleineidam,Klaus Fliebach,Michael T. Heneka,Wolfgang Maier,Matthias Schmid,Anja Schneider,Annika Spottke,Michael Wagner,Henning Boecker,Andr Lacour,Christine Herold,Tim Becker,Ying Wu,Yanbing Wang,Frank Jessen&Alfredo Ramirez

Research Center and Memory Clinic Fundaci ACE, Institut Catal de Neurocincies Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain

Sonia Moreno-Grau,Itziar de Rojas,Pablo Garcia-Gonzalez,Carla Abdelnour,Emilio Alarcn-Martn,Montserrat Alegret,Merc Boada,Miguel Calero,Ana Espinosa,Pablo Garca-Gonzlez,Isabel Hernndez,Marta Marqui,Laura Montrreal,Adelina Orellana,Gemma Ortega,Alba Prez-Cordn,Raquel Puerta,Natalia Roberto,Maite Rosende-Roca,ngela Sanabria,Oscar Sotolongo-Grau,Juan Pablo Tartan,Llus Trraga,Sergi Valero,Ana Maulen,Ana Pancho,Anna Gailhajenet,Asuncin Lafuente,Elvira Martn,Esther Pelej,Liliana Vargas,Mar Buendia,Marina Guitart,Mariona Moreno,Marta Ibarria,Nuria Aguilera,Pilar Caabate,Silvia Preckler,Susana Diego,Nuria Aguilera,Amanda Cano,Pilar Caabate,Ral Nuez-Llaves,Cludia Oliv,Ester Pelej&Agustn Ruiz

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain

Sonia Moreno-Grau,Itziar de Rojas,Pablo Garcia-Gonzalez,Carla Abdelnour,Daniel Alcolea,Montserrat Alegret,Rafael Blesa,Merc Boada,Dolores Buiza-Rueda,Laura Cervera-Carles,Ana Espinosa,Juan Fortea,Mara J. Bullido,Ana Frank-Garca,Jose Maria Garca-Alberca,Isabel Hernndez,Carmen Lage,Alberto Lle,Adolfo Lopez de Munain,Marta Marqui,Angel Martn Montes,Miguel Medina,Pablo Mir,Fermin Moreno,Adelina Orellana,Gemma Ortega,Jordi Prez-Tur,Alberto Rbano,Eloy Rodriguez-Rodriguez,Maite Rosende-Roca,ngela Sanabria,Pascual Snchez Juan,Llus Trraga,Sergi Valero,Miren Zulaica,Ad Adarmes-Gmez,D. Macias-Garca,F. Carrillo,Isabel Sastre Merln,L. Garrote-Espina,M. Carrion-Claro,Ma Labrador,Mt Perin,P. Gmez-Garre,R. Escuela,R. Vigo-Ortega,S. Jess,Nuria Aguilera,Pilar Caabate,Astrid D. Adarmes-Gmez,Ftima Carrillo,Mario Carrin-Claro,Roco Escuela,Lorena Garrote-Espina,Pilar Gmez-Garre,Silvia Jess,Miguel Angel Labrador Espinosa,Sara Lpez-Garca,Daniel Macias-Garca,Mara Teresa Perin-Tocino,Roco Pineda-Snchez,Isabel Sastre,Rosario Vigo-Ortega,Jordi Clarimon&Agustn Ruiz

Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands

Najaf Amin,Amber Yaqub,Ivana Prokic,Shahzad Ahmad,Hata Comic,Tavia Evans,Maria Knol,William Kremen,Gena Roshchupkin,Dina Vojinovic,Mohsen Ghanbari,M. Arfan Ikram&Cornelia M. van Duijn

Nuffield Department of Population Health, Oxford University, Oxford, UK

Najaf Amin&Cornelia M. van Duijn

Department of Biostatistics, Epidemiology, and Informatics, Penn Neurodegeneration Genomics Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA

Adam C. Naj,Jin Sha,Alessandra Chesi,Beth A. Dombroski,Jacob Haut,Pavel P. Kuksa,Chien-Yueh Lee,Edward B. Lee,Yuk Yee Leung,Mingyao Li,John Malamon,Liming Qu,John Q. Trojanowski,Otto Valladares&Vivianna M. Van Deerlin

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA

Adam C. Naj,Valentina Escott-Price,Pavel P. Kuksa,Chien-Yueh Lee,Otto Valladares,Li-San Wang,Yi Zhao&Gerard D. Schellenberg

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK

Peter A. Holmans,Catherine Bresner,Janet Harwood,Lauren Luckcuck,Rachel Marshall,Amy Williams,Charlene Thomas,Chloe Davies,William Nash,Kimberley Dowzell,Atahualpa Castillo Morales,Mateus Bernardo-Harrington,Julie Williams&Rebecca Sims

CEA, Centre National de Recherche en Gnomique Humaine, Universit Paris-Saclay, Evry, France

Anne Boland,Cline Besse,Delphine Daian,Bertrand Fin,Robert Olaso&Jean-Franois Deleuze

Section Genomics of Neurodegenerative Diseases and Aging, Department of Human Genetics Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands

Sven J. van der Lee,Henne Holstege,Marc Hulsman,Yiyi Ma&Niccolo Tes

Brain Institute, Federal University of Rio Grande do Norte, Natal, Brazil

Marcos R. Costa&Mikko Hiltunen

Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland

Teemu Kuulasmaa,Alexa Beiser,Anita DeStefano,Kathryn L. Lunetta,Gina Peloso,Ruiqi Wang,Neil W. Kowall,Ann C. McKee,Jesse Mez,Robert A. Stern&Lindsay A. Farrer

Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA

Qiong Yang,Anita DeStefano,Lena Kilander,Malin Lwemark,Claudia L. Satizabal,Ruiqi Wang,Adrienne L. Cupples,Jose Dupuis,Shuo Li,Xuan Liu&Sudha Seshadri

Framingham Heart Study, Framingham, MA, USA

Qiong Yang,Oscar Lopez&Bruce M. Psaty

Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA

Joshua C. Bis&Alison E. Fohner

LACDR, Leiden, the Netherlands

Shahzad Ahmad

Department of Public Health and Carins Sciences/Geriatrics, Uppsala University, Uppsala, Sweden

Vilmantas Giedraitis&Martin Ingelsson

Centre of Age-Related Medicine, Stavanger University Hospital, Stavanger, Norway

Dag Aarsland

Institute of Psychiatry, Psychology & Neuroscience, London, UK

Dag Aarsland

Department of Surgery, Biochemistry and Molecular Biology, School of Medicine, University of Mlaga, Mlaga, Spain

Emilio Alarcn-Martn

Department of Neurology, II B Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autnoma de Barcelona, Barcelona, Spain

Daniel Alcolea,Rafael Blesa,Laura Cervera-Carles,Juan Fortea,Alberto Lle,Martin Rossor&Jordi Clarimon

Fundaci Docncia i Recerca MtuaTerrassa and Movement Disorders Unit, Department of Neurology, University Hospital MtuaTerrassa, Terrassa, Spain

Ignacio Alvarez,Mnica Diez-Fairen&Pau Pastor

Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Spain

Ignacio Alvarez,Mnica Diez-Fairen&Pau Pastor

Laboratorio de Gentica, Hospital Universitario Central de Asturias, Oviedo, Spain

Victoria lvarez&Irene Rosas Allende

Servicio de Neurologa, Hospital Universitario Central de Asturias- Oviedo and Instituto de Investigacin Biosanitaria del Principado de Asturias, Oviedo, Spain

Victoria lvarez,Carmen Martnez Rodrguez,Manuel Menndez-Gonzlez&Irene Rosas Allende

Centre for Healthy Brain Ageing, School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia

Nicola J. Armstrong,Henry Brodaty,Anbupalam Thalamuthu,Perminder Sachdev&Karen Mather

First Department of Neurology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece

Anthoula Tsolaki,Tegos Thomas,Anna Anastasiou&Magda Tsolaki

Alzheimer Hellas, Thessaloniki, Greece

Anthoula Tsolaki,Tegos Thomas&Magda Tsolaki

Unidad de Demencias, Hospital Clnico Universitario Virgen de la Arrixaca, Murcia, Spain

Carmen Antnez,Martirio Antequera,Agustina Legaz,Juan Marn-Muoz,Begoa Martnez,Victoriana Martnez,Maria Pilar Vicente&Liliana Vivancos

School of Medicine and Surgery, University of Milano-Bicocca, Milano, Italy

Ildebrando Appollonio,Elisa Conti,Lucio Tremolizzo,Carlo Ferrarese,Simona Andreoni,Gessica Sala&Chiara Paola Zoia

Neurology Unit, San Gerardo Hospital, Monza, Italy

Ildebrando Appollonio,Lucio Tremolizzo&Carlo Ferrarese

Fondazione IRCCS CaGranda, Ospedale Policlinico, Milan, Italy

Marina Arcaro,Daniela Galimberti&Elio Scarpini

Department of Laboratory Diagnostics, III Laboratory of Analysis, Brescia Hospital, Brescia, Italy

Silvana Archetti

Unitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida, Lleida, Spain

Alfonso Arias Pastor,Raquel Huerto Vilas&Gerard Piol-Ripoll

Institut de Recerca Biomedica de Lleida (IRBLLeida), Lleida, Spain

Alfonso Arias Pastor,Raquel Huerto Vilas&Gerard Piol-Ripoll

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

Beatrice Arosio

Geriatic Unit, Fondazione C Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy

Beatrice Arosio,Simona Ciccone,Paolo Dionigi Rossi&Evelyn Ferri

NORMENT Centre, University of Oslo, Oslo, Norway

Lavinia Athanasiu,Srdjan Djurovic,Alexey A. Shadrin,Shahram Bahrami&Ole A. Andreassen

EA 4468, Universit de Paris, APHP, Hpital Broca, Paris, France

Henri Bailly,Emmanuelle Duron,Olivier Hanon&Jean-Sbastien Vidal

Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, Rome, Italy

Nerisa Banaj,Gianfranco Spalletta,Francesca Assogna,Fabrizio Piras,Federica Piras,Valentina Ciullo,Jacob Shofany&Yi Zhao

Servei de Neurologia, Hospital Universitari i Politcnic La Fe, Valencia, Spain

Miquel Baquero&Juan Andrs Burguera

Taub Institute on Alzheimers Disease and the Aging Brain, Department of Neurology, Columbia University, New York, NY, USA

Sandra Barral,Richard Mayeux,Nikolaos Scarmeas,Giuseppe Tosto,Badri N. Vardarajan,Sandra Barral,Lawrence S. Honig,Scott Small,Jean-Paul Vonsattel&Jennifer Williamson

Excerpt from:
New insights into the genetic etiology of Alzheimer's disease and related dementias - Nature.com

Genetics

European Society of Cardiology publishes new genetic testing guidelines for heart conditions – Cardiovascular Business

In general, the authors write, cardiovascular disorders fall into broad categories: Mendelian cardiovascular disorders, caused by the inheritance of just one or two genetic variants, and disorders with complex inheritance, with multiple genetic variants that are potentially contributing factors.

In both categories, environmental and other non-genetic factors also contribute to the ultimate phenotypic expression, according to the document. However, Mendelian disorders often cluster in families, which may indicate an increased tilt toward family member screening in certain cases.

In Mendelian cardiovascular disorders with potentially devastating initial manifestations, such as SCD or aortic dissection, appropriate and prompt identification of individuals at risk is imperative, the authors wrote. Such clinical genetic testing for these single-gene disorders has been shown to be cost-effective and can be considered a success story in the application of genetics into clinical practice.

Before genetic testing is performed, the authors recommend genetic counseling for family members to inform them about the potentially life-changing consequences of a positive diagnosis.

For instance, if an individual has no symptoms but his or her sibling has a serious inherited cardiac disease, the first question should be do you want to know whether you have this condition, yes or no? Wilde said in the ESC statement. A diagnosis may trigger difficulties with insurance, getting a mortgage, and so on. He or she needs to be informed before making any decisions.

Of course, any decision should also take into consideration the potential benefits for patients and their families, both now and in the future. Noting the continued progress being made in gene therapy, the authors foresee a future where clinical applications may evolve even further with further research.

Looking to the future, with the advances being made in the field of gene therapy, the identification of the patients fundamental disease-causative substrate may enable not only genotype-guided therapies but also gene-specific, even pathogenic variant-specific therapies.

Combinedgenetic testing for cardiomyopathies and arrhythmias yields positive results

What cardiologists know, and dont know, about genetic testing for heart disease

Cardiologists identify 162 genes responsible for coronary heart disease

The rest is here:
European Society of Cardiology publishes new genetic testing guidelines for heart conditions - Cardiovascular Business