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Embryology

Science in the Neighborhood Public Lecture Dr. Alexandria Forbes – Carnegie Institution for Science

Carnegie Embryology presents: A Science in the Neighborhood public lecture with Dr. Alexandria Forbes, President and CEO of clinical-stage gene therapy company MeiraGTx.

MeiraGTx is focused on developing curative treatments for patients living with serious diseases. Their research and development efforts are concentrated on three areas with distinct medical needs: Ocular, neurodegenerative, and salivary gland diseases. People who suffer from these conditions currently have zero-to-limited treatment options; however, gene therapy has high potential to provide meaningful clinical benefits.

Dr. Alexandria Forbes has served as President and CEO of MeiraGtx since March 2015. Before joining MeiraGTx, Dr. Forbes served as Senior Vice President of Commercial Operations at Kadmon Holdings, Inc., a biopharmaceutical company, and spent 12 years as a healthcare investor at Sivik Global Healthcare and at Meadowvale Asset Management.

Prior to entering the hedge fund and biopharmaceutical industries, Dr. Forbes was a Human Frontiers/Howard Hughes postdoc at the Skirball Institute of Biomolecular Medicine and a research fellow in the Spradling Lab at Carnegie Embryology. She received her MA in Natural Sciences from Cambridge University and her PhD in Molecular Genetics from Oxford University.

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Science in the Neighborhood Public Lecture Dr. Alexandria Forbes - Carnegie Institution for Science

Embryology

Scots mum’s heartbreak as UK law stops teen daughter moving to America to join her family – Daily Record

A Scots mum living in America has spoken of her heartbreak over a UK law stopping her teenage daughter from moving to the states to live with her.

Tracy Matthews, from Aberdeen, is the non-birth mother of two young Scottish girls by artificial insemination while in a same-sex relationship with the children's birth mother, Mandy Anderson.

Tracy, 57, relocated to Texas two years ago and now has permanent resident status with new wife Erica, with whom she also has two sons, Nash and Colt.

But she is separated from 15-year-old daughter Skye, who remains in Aberdeen with birth mum Mandy, because the teen was born before a law change in 2008 which allows both same sex parents to be registered on a child's birth certificate. is the child was born by assisted conception.

Skye was born in 2007, one year before the introduction of Human Fertilisation and Embryology Act 2008, which allows both parents to be registered.

Despite Skye being desperate to move to Texas to be with Tracy, the mum is unable to obtain a Visa for her daughter because she is not registered on her birth certificate.

Now Tracy has spoken of the 'crushing' separation from her daughter, as she fights for a change in UK law to allow her to be officially recognised as Skye's mum.

Speaking to the Record Tracy said: "I can't apply for a visa for Skye because I'm not on the birth certificate.

"If she was born just one year later this wouldn't be an issue at all.

"They changed the law to say that both parents could be recognised through artificial insemination from 2008 onwards - but why not my child - born just one year before then?

"If we can't change this then it will be crushing for us. Erica is American our boys grandparents live here. Syke wants to be here.

"But if we can't fix this, we will have to move back."

Mum-of-five Tracy, who also has a grown up biological daughter, Jay, still gets on well with ex-partner Mandy, who she was with for 13 years.

The couple's other daughter and Skye's sister, 21-year-old Megan, was the first child born through artificial insemination to a same-sex couple in Scotland.

Mandy told the Daily Record: "We still raise our kids together so Tracy is as much their mum as I am.

"The opportunities Skye can have in America are great - it is a different way of life.

"She wants to expand her horizons and it would be good for her to do that with her other parent.

"We are having to tell our daughter that while she should be able to do that, she can't, because of red tape."

Despite contacting lawyers and various organisations for the past two years, Tracy has been informed the only way for her to be registered on Skye and Megan's birth certificates is by changing UK law.

She said: "We have been fighting this now for two years. We wrote to various organisations who we thought could help, but no one can.

"But I will continue to challenge this for my daughter.

Gordon MP Richard Thomson has been helping the mum since 2020 but was informed by the UK government that they have no plans to change the current law.

He said: Tracy and her family have found themselves in the situation where the UK law as it stands prevents them from having their family recognised in law as they would wish it to be.

It is frustrating that the UK Government appears to have no plans to amend the law relating to the registration of same-sex mothers to allow registrations to be carried out retrospectively.

"Id urge the UK Government to reconsider, because while the numbers of people affected may be relatively small, both the practical and emotional impact on those who are affected such as Tracey and her family can be very significant indeed.

A Scottish Government spokesperson said: The Human Fertilisation and Embryology Act 2008 makes provision on parenthood in cases involving assisted reproduction.

"The 2008 Act is a reserved matter for the UK Government and so any changes to it are for the UK Government and Parliament."

A UK government spokesperson said: "Section 2 of the Human Fertilisation and Embryology Act 2008 covers the provisions around same-sex female parenthood for partners undertaking assisted conception in UK fertility clinics licensed by the Human Fertilisation and Embryology Authority (HFEA).

"This legislation took effect from 1 April 2008, and has no retrospective effect.

"Unfortunately, Mrs Matthews is therefore not covered by the provisions of the Act and there is no legislative mechanism to include her on the childrens birth certificates.

"There are no current plans to review the 2008 or 1990 HFE Acts."

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Scots mum's heartbreak as UK law stops teen daughter moving to America to join her family - Daily Record

Embryology

In Vitro Fertilization Market Analysis by Production, Consumption and Competitive Analysis Till 2028 Mianeh – Mianeh

In Vitro Fertilization Market report is the perfect to create sustainable and profitable business strategies by using valuable and actionable market insights. Market research analysis and data lend a hand to businesses for the planning of strategies related to investment, revenue generation, production, product launches, costing, inventory, purchasing and marketing. Besides this, market drivers, market restraints, opportunities and challenges are evaluated under market overview which gives valuable insights to businesses for taking right moves. Thorough and transparent research studies conducted by a team work of experts in their own domain accomplish this global business document.

This business document delivers comprehensive analysis of the market structure along with the estimations of various segments and sub-segments of the market. This market report is sure to help in the journey to achieve business growth and success. The statistical and numerical data such as facts and figures are denoted very properly in the report by using charts, tables or graphs. Inputs from various industry experts, essential for the detailed market analysis, have been employed very carefully to generate this finest business document. Large scale report includes key information about the industry, market segmentation, important facts and figures, expert opinions, and the latest developments across the globe.

The Global In Vitro Fertilization Market is expected to reach USD 847.8 billion by 2025, from USD 465.2 billion in 2017 growing at a CAGR of 10.0 % during the forecast period of 2018 to 2025. The upcoming market report contains data for the historic year 2016, the base year of calculation is 2017 and the forecast period is 2018 to 2025.

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Global In Vitro Fertilization Market,By Product (Reagents, Equipment),Type of Cycle (Fresh Non-Donor IVF Cycles, Frozen Non-Donor IVF Cycles, Frozen Donor IVF Cycles, Fresh Donor IVF Cycles), End User (Hospitals & Research Laboratories, Cryobanks ),Geography (North America, South America, Europe, Asia-Pacific, Middle East and Africa) Industry Trends and Forecast to 2025

Major Market Competitors/Players:Global In Vitro Fertilization Market

Some of the major players operating in global in- vitro fertilization market are Groupe Clinique Ambroise Par, amedes MVZ Cologne GmbH, AMP Center St Roch, AVA International Clinic Scanfert, Bangkok IVF center, Betamedics, Biofertility Center, Bloom Healthcare, Bourn Hall Fertility Center, , Cardone & Associates Reproductive Medicine & Infertility, The Center for Advanced Reproductive Services, Chelsea and Westminster Hospital NHS Foundation Trust, Cloudnine Fertility, Conceptions Reproductive Associates of Colorado, Cyprus IVF Centre, Dansk Fertilitetsklinik, EUVITRO S.L.U., , Lieff Cabraser Heimann & Bernstein, LLP, Fertility First, IVF Centers Prof. Zech, Flinders Reproductive Medicine Pty Ltd, Genea Oxford Fertility Limited, IVF Spain, IVI Panama, KL Fertility & Gynaecology Centre, Lifesure Fertility and Gynaecology centre, Manipal Fertility, , Medfem Fertility Clinic, Monash IVF, OVA IVF Clinic Zurich, Procrea, RAPRUI S.r.l., SAFE FERTILITY CENTER, SANNO HOSPITAL, SIRM Fertility Clinics, Stork IVF Klinik, ARC-STER S.r.l., The Montreal Fertility Center, Thomson Medical Centre, TRIO Fertility, Virtus Health, VivaNeo, Die Kinderwunsch and among others.

Competitive Analysis:

The global In- Vitro Fertilization market is highly fragmented and the major players have used various strategies such as new product launches, expansions, agreements, joint ventures, partnerships, acquisitions, and others to increase their footprints in this market. The report includes market shares of In- Vitro Fertilization market for global, Europe, North America, Asia Pacific and South America.

Market Definition:

In vitro fertilization is a procedure in which egg from women ovary are removed and after that the egg is fertilized with a sperm in a laboratory procedure, and then the fertilized egg is transfered into the women uterus. In vitro fertilization is used in the management of female infertility. In 2018, the Cooper Companies was announce that the Cooper Surgical acquired the assets of The Life Global Group and its affiliates which is a leading provider of invitrofertilization devices. In July 2018, Merck launched new product Geri Assess 2.0.This product is useful in automatic detection of embryo and blastocyst development, improving efficiency in assessment.

According to the Centre for Disease Control and Prevention in 2016, approximately 263,577 ART (Assisted Reproductive Technology) cycle was performed in US. As per the Human Fertilization and Embryology Authority in 2016, more than 68,000 IVF treatments were provided in U.K. In 2016 Birth rate from IVF has been increased to 85.0% in U.K. In 2016 around 20000 childrens were born by IVF. As per the published news IVF Success Rates For Fertility Clinics in the United States in 2016 and around 263,577 ART cycle was performed in U.S. Due to the increasing rate of infertility amongst the population, patients are opting the IVF Fertilization which is fuelling the growth of market.

Major Market Drivers and Restraints:

Market Segmentation:

The global In vitro fertilization market is segmented based on product, type of cycle, end user and geographical segments.

Based on product, the market is segmented into reagents, equipment.

Based on reagents, the market is further segmented into embryo culture media, cryopreservation media, sperm processing media, OVUM processing media.

Based on equipment, the market is further segmented into imaging systems, sperm separation systems, cabinets, OVUM aspiration pumps, incubators, micromanipulator systems, gas analysers, laser systems, accessories, cryo systems, anti-vibration tables, witness systems.

Based on type of cycle, the market is segmented into fresh non-donor IVF cycles, frozen non-donor IVF cycles, frozen donor IVF cycles, fresh donor IVF cycles.

Based on end user, the market is segmented into fertility clinics & surgical centers, hospitals & research laboratories, cryobanks.

Based on geography, the market report covers data points for 28 countries across multiple geographies namely North America & South America, Europe, Asia-Pacific and, Middle East & Africa. Some of the major countries covered in this report are U.S., Canada, Germany, France, U.K., Netherlands, Switzerland, Turkey, Russia, China, India, South Korea, Japan, Australia, Singapore, Saudi Arabia, South Africa and, Brazil among others

Key Developments in the Market:

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In Vitro Fertilization Market Analysis by Production, Consumption and Competitive Analysis Till 2028 Mianeh - Mianeh

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

Genetics

Study reveals a genetic overlap between childhood and adult mental health disorders – News-Medical.Net

Hereditary factors are partly responsible for childhood anxiety and depression that persists into adulthood, according to University of Queensland researchers.

In the largest study of its kind in the world, the genetics of 64,641 children, aged between 3 and 18 years, were analyzed using longitudinal data from the Early Genetics and Lifeforce Epidemiology consortium.

Professor Christel Middeldorp, who holds a co-joint appointment with the UQ Child Health Research Centre and Children's Health Queensland, said the study showed children who had similar levels of anxiety and depression were also alike genetically.

It also revealed a genetic overlap between childhood and adult mental health disorders when comparing the results in this childhood study with results of previous studies in adults.

These findings are important because they help identify people most at risk of symptoms continuing across the lifespan, so intense treatment can be provided where needed."

Professor Christel Middeldorp, UQ Child Health Research Centre and Children's Health Queensland

It's the first time researchers have conducted such a large-scale study examining the role of genetics in repeated measures of anxiety and depression in children.

Professor Middeldorp said genetic variants needed to be investigated because they increased the risk of recurrence and co-occurrence with other disorders.

"Mental health symptoms often come together, so those who experience anxiety or depression have a greater risk of disorders such as ADHD, aggressive behavior," she said.

"We found that this co-occurrence is also due to genetic variants" Professor Middeldorp said.

Genetics account for around 40 per cent of a person's risk of suffering anxiety and depression, with environmental factors accounting for the rest.

Professor Middeldorp said while everyone could feel anxious or depressed from time to time, some people were better able to adjust to life's circumstances.

"People with an anxiety disorder ruminate about their situation, preventing them from moving on," she said.

"There is a difference in how people respond to stressors, and part of that difference is genetic."

Researchers will now analyze the interplay of genetics and environmental variables, such as school and family life, to see how together they influence childhood anxiety and depression.

Source:

Journal reference:

Jami, E.S., et al. (2022) Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing Symptoms. Journal of the American Academy of Child and Adolescent Psychiatry. doi.org/10.1016/j.jaac.2021.11.035.

Original post:
Study reveals a genetic overlap between childhood and adult mental health disorders - News-Medical.Net

Genetics

Genetics of osteopontin in patients with chronic kidney disease: The German chronic kidney disease study – DocWire News

This article was originally published here

PLoS Genet. 2022 Apr 6;18(4):e1010139. doi: 10.1371/journal.pgen.1010139. Online ahead of print.

ABSTRACT

Osteopontin (OPN), encoded by SPP1, is a phosphorylated glycoprotein predominantly synthesized in kidney tissue. Increased OPN mRNA and protein expression correlates with proteinuria, reduced creatinine clearance, and kidney fibrosis in animal models of kidney disease. But its genetic underpinnings are incompletely understood. We therefore conducted a genome-wide association study (GWAS) of OPN in a European chronic kidney disease (CKD) population. Using data from participants of the German Chronic Kidney Disease (GCKD) study (N = 4,897), a GWAS (minor allele frequency [MAF]1%) and aggregated variant testing (AVT, MAF<1%) of ELISA-quantified serum OPN, adjusted for age, sex, estimated glomerular filtration rate (eGFR), and urinary albumin-to-creatinine ratio (UACR) was conducted. In the project, GCKD participants had a mean age of 60 years (SD 12), median eGFR of 46 mL/min/1.73m2 (p25: 37, p75: 57) and median UACR of 50 mg/g (p25: 9, p75: 383). GWAS revealed 3 loci (p<5.0E-08), two of which replicated in the population-based Young Finns Study (YFS) cohort (p<1.67E-03): rs10011284, upstream of SPP1 encoding the OPN protein and related to OPN production, and rs4253311, mapping into KLKB1 encoding prekallikrein (PK), which is processed to kallikrein (KAL) implicated through the kinin-kallikrein system (KKS) in blood pressure control, inflammation, blood coagulation, cancer, and cardiovascular disease. The SPP1 gene was also identified by AVT (p = 2.5E-8), comprising 7 splice-site and missense variants. Among others, downstream analyses revealed colocalization of the OPN association signal at SPP1 with expression in pancreas tissue, and at KLKB1 with various plasma proteins in trans, and with phenotypes (bone disorder, deep venous thrombosis) in human tissue. In summary, this GWAS of OPN levels revealed two replicated associations. The KLKB1 locus connects the function of OPN with PK, suggestive of possible further post-translation processing of OPN. Further studies are needed to elucidate the complex role of OPN within human (patho)physiology.

PMID:35385482 | DOI:10.1371/journal.pgen.1010139

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Genetics of osteopontin in patients with chronic kidney disease: The German chronic kidney disease study - DocWire News

Physiology

Yale Researchers Continue to Unravel the Mystery of Metformin – Yale School of Medicine

Yale researchers have further elucidated the mechanism of metformin, a widely used type 2 diabetes medication that, despite its long history of being safe and effective, works in a way that has remained elusive to scientists.

On March 1, Gerald Shulman, MD, PhD, George R. Cowgill Professor of Medicine (Endocrinology) and professor of cellular and molecular physiology, published his labs findings on how metformin works to suppress gluconeogenesis through inhibiting Complex IV activity. Now, a different study led by Yingqun Huang, MD, PhD, professor of obstetrics, gynecology & reproductive sciences, builds upon Shulmans findings and further illuminates how the drug works. Her team published its findings in Proceedings of the National Academy of Sciences on March 28. Our research not only discovered a new mechanism of metformin, but also identified potential therapeutic molecular targets, says Huang.

Shulmans findings over recent years supporting an oxidation-reduction (redox)-dependent mechanism of metforminin which cytosolic redox is increasedintrigued Huangs lab. But while Shulmans lab has focused on how inhibition of the mitochondrial enzyme Complex IV promotes an increased cytosolic redox state and inhibition of gluconeogenesis [glucose production from glycerol, lactate and amino acids], Huang is interested in how increased redox changes hepatocytes [liver cells] further downstreama mechanism researchers are now debating.

In 2020, Huangs lab published a paper in Nature Communications that found that the expression of a gene known as TET3 was increased in mice and humans with diabetes. In turn, the expression of a specific fetal isoform of the HNF4A gene was also increased. In healthy adult livers, the adult form of HNF4A is predominantly expressed. In patients with diabetes, however, the fetal isoform is chronically increased because TET3 is also chronically increased. This fetal isoform also increases gluconeogenesis by regulating key enzymes involved in the process.

In our published paper two years ago, we identified that the upregulation of TET3 and the HNF4A fetal isoform in humans and mice with diabetes contribute to unabated gluconeogenesis in the liver, says Da Li, professor at China Medical University and co-author on both studies. Now, through its latest work, Huangs lab has discovered that when metformin induces an increase in cellular redox, this in turn increases let-7, a small microRNA molecule. When let-7 increases, it binds to and downregulates TET3, suppressing the HNF4A fetal isoform and also gluconeogenesis mproving diabetes

In the livers of diabetes, let-7 is depressed, explains Di Xie, associate research scientist in Huangs lab and first author of the study. Metformin brings let-7 back to normal levels and inhibits gluconeogenesis.

Unabated glucose production from the liver is one of the key mechanisms of diabetes. Through better understanding how metformin works to suppress gluconeogenesis, Huang hopes her work will lead to more effective drugs with fewer side effects. The study also identified potential therapeutic targets including let-7. Scientists could potentially use a vector such as a mild virus known as adeno-associated virus, for example, to specifically deliver a let-7 mimic to the liver of patients with diabetes to enhance let-7 expression and treat the condition. Huang hopes to develop such a vector for delivering therapeutics like a let-7 mimic in future research.

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Yale Researchers Continue to Unravel the Mystery of Metformin - Yale School of Medicine

Physiology

State agencies, AAA offer first Advanced Drug-Impairment Assessment through physiology and toxicology course – The Mountain Press

TENNESSEE On March 7-8, the Tennessee Highway Safety Office partnered with the Tennessee Bureau of Investigation, Middle Tennessee State Universitys Forensic Science Laboratory, and AAA to offer the very first, Advanced Drug-Impairment Assessment through Physiology and Toxicology (ADAPT) course in the country.

The ADAPT course is designed to further the knowledge of law enforcement Drug Recognition Experts (DREs) regarding the effects of legal and illegal substances on the human body and driver impairment after consumption. Those who complete the course become better equipped to serve as expert court witnesses by offering stronger testimonies during the prosecution of impaired drivers. Currently, the Tennessee Highway Safety Office has certified 270 law enforcement officers as DREs in Tennessee, while training approximately 40 new DREs each year.

The THSO is proud to offer this training to help reduce impaired driving across Tennessee roadways, said THSO Director Buddy Lewis. We appreciate the TBI, MTSU, and AAA for their partnership in educating officers to save lives and protect our communities.

The class of 94 students consisted of representatives from 16 municipal law enforcement agencies, six county agencies, and the Tennessee Highway Patrol. Presenters included the Tennessee District Attorneys General Conference, Tennessee Traffic Safety Resource Prosecutors, the TBI, and the THSO.

Course training modules featured Joe Abrusci, Eastern Region DRE Coordinator for the International Association of Chiefs of Police; MTSU Assistant Professor Dr. Kiel Ormerod; and several TBI toxicologists including Melinda Quinn and JaQueya Ogilvie.

Modules included the following topics: Anatomy and Physiology of the Brain, CNS Depressants, CNS Stimulants, Pharmacology and Effects of THC in Marijuana, Hallucinogens and Dissociative Drugs, Esoteric Drugs and Emerging Drug Trends, Oral Fluid Testing, and Working with DREs in Court.

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State agencies, AAA offer first Advanced Drug-Impairment Assessment through physiology and toxicology course - The Mountain Press

Physiology

How organisms have adapted to the passage of time and other unsolved questions about the many-faceted mystery of time – EurekAlert

image:13th Symposium Behind and Beyond the Brain" view more

Credit: BIAL Foundation

What are the biological signatures of time? In the session on The Biology of Time, on April 8th, experts on psychology of time, neurophysiology, circadian biology and neural coding will discuss how time influences biological architectures, perceptual encoding and prediction of physical relations and social cognition.

Under the theme The mystery of time, the 13th Symposium of the BIAL Foundation gathers some of the most prominent scientists and philosophers to engage in an interdisciplinary dialogue around the many aspects of time.

The second session, taking place on the morning of April 8th, is aimed at surveying the biology of time. Moderated by Miguel Castelo-Branco (Coimbra, PT), it features lectures by Julia Mossbridge (San Diego and Petaluma, USA), Michael Brecht (Berlin, DE), and Joseph S. Takahashi (Dallas, USA), who will examine how organisms have adapted to the passage of time: from biological clocks to the mechanisms of memory, from pre-sponding to circadian rhythms, the speakers will explore the many ways in which neural systems respond to time in the absence of specific receptors systems dedicated to perceive it.

Joseph S. Takahashi is a Japanese American neurobiologist and geneticist known for having discovered the genetic basis for the mammalian circadian clock in 1994 and also for having identified the Clock gene in 1997. In this session, Takahashi will focus on circadian clocks and their impact on metabolism, aging and longevity. His lecture will discuss recent discoveries on the neuronal network in the suprachiasmatic nucleus.

In addition to controlling the timing of behavior and physiology, the clock gene network interacts directly with many other pathways in the cell. These include metabolism, immune function, cardiovascular function and cell growth to name a few. Regarding the current diet trend known as intermittent fasting, Takahashi says that with respect to metabolism, the timing of nutrient consumption is crucial, and we and others have shown that restricting the timing of feeding has many health benefits, being a critical factor for aging and longevity.

The morning will close with a keynote lecture by Wolf Singer (Frankfurt, DE), who will overview what sorts of mechanisms have evolved to make it possible for living things to be able to parse time. Among many other questions, the apparent paradox will be discussed that the perception of elapsed and remembered time is strongly dependent on context while the reproduction of temporally structured sequences can be extremely precise.

The Symposium Behind and Beyond the Brain will be held from April 6 to 9, 2022, at Casa do Mdico, Porto, Portugal. The event will be organised in a hybrid format involving both in-person and virtual participants to be accessible to a wider audience. Registrations are open and available here.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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How organisms have adapted to the passage of time and other unsolved questions about the many-faceted mystery of time - EurekAlert