Category Archives: Human Genetics

The genetic architecture of the human cerebral cortex

By Katrina L. Grasby, Neda Jahanshad, Jodie N. Painter, Luca Colodro-Conde, Janita Bralten, Derrek P. Hibar, Penelope A. Lind, Fabrizio Pizzagalli, Christopher R. K. Ching, Mary Agnes B. McMahon, Natalia Shatokhina, Leo C. P. Zsembik, Sophia I. Thomopoulos, Alyssa H. Zhu, Lachlan T. Strike, Ingrid Agartz, Saud Alhusaini, Marcio A. A. Almeida, Dag Alns, Inge K. Amlien, Micael Andersson, Tyler Ard, Nicola J. Armstrong, Allison Ashley-Koch, Joshua R. Atkins, Manon Bernard, Rachel M. Brouwer, Elizabeth E. L. Buimer, Robin Blow, Christian Brger, Dara M. Cannon, Mallar Chakravarty, Qiang Chen, Joshua W. Cheung, Baptiste Couvy-Duchesne, Anders M. Dale, Shareefa Dalvie, Tnia K. de Araujo, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Anouk den Braber, Nhat Trung Doan, Katharina Dohm, Stefan Ehrlich, Hannah-Ruth Engelbrecht, Susanne Erk, Chun Chieh Fan, Iryna O. Fedko, Sonya F. Foley, Judith M. Ford, Masaki Fukunaga, Melanie E. Garrett, Tian Ge, Sudheer Giddaluru, Aaron L. Goldman, Melissa J. Green, Nynke A. Groenewold, Dominik Grotegerd, Tiril P. Gurholt, Boris A. Gutman, Narelle K. Hansell, Mathew A. Harris, Marc B. Harrison, Courtney C. Haswell, Michael Hauser, Stefan Herms, Dirk J. Heslenfeld, New Fei Ho, David Hoehn, Per Hoffmann, Laurena Holleran, Martine Hoogman, Jouke-Jan Hottenga, Masashi Ikeda, Deborah Janowitz, Iris E. Jansen, Tianye Jia, Christiane Jockwitz, Ryota Kanai, Sherif Karama, Dalia Kasperaviciute, Tobias Kaufmann, Sinead Kelly, Masataka Kikuchi, Marieke Klein, Michael Knapp, Annchen R. Knodt, Bernd Krmer, Max Lam, Thomas M. Lancaster, Phil H. Lee, Tristram A. Lett, Lindsay B. Lewis, Iscia Lopes-Cendes, Michelle Luciano, Fabio Macciardi, Andre F. Marquand, Samuel R. Mathias, Tracy R. Melzer, Yuri Milaneschi, Nazanin Mirza-Schreiber, Jose C. V. Moreira, Thomas W. Mhleisen, Bertram Mller-Myhsok, Pablo Najt, Soichiro Nakahara, Kwangsik Nho, Loes M. Olde Loohuis, Dimitri Papadopoulos Orfanos, John F. Pearson, Toni L. Pitcher, Benno Ptz, Yann Quid, Anjanibhargavi Ragothaman, Faisal M. Rashid, William R. Reay, Ronny Redlich, Cline S. Reinbold, Jonathan Repple, Genevive Richard, Brandalyn C. Riedel, Shannon L. Risacher, Cristiane S. Rocha, Nina Roth Mota, Lauren Salminen, Arvin Saremi, Andrew J. Saykin, Fenja Schlag, Lianne Schmaal, Peter R. Schofield, Rodrigo Secolin, Chin Yang Shapland, Li Shen, Jean Shin, Elena Shumskaya, Ida E. Snderby, Emma Sprooten, Katherine E. Tansey, Alexander Teumer, Anbupalam Thalamuthu, Diana Tordesillas-Gutirrez, Jessica A. Turner, Anne Uhlmann, Costanza Ludovica Vallerga, Dennis van der Meer, Marjolein M. J. van Donkelaar, Liza van Eijk, Theo G. M. van Erp, Neeltje E. M. van Haren, Daan van Rooij, Marie-Jos van Tol, Jan H. Veldink, Ellen Verhoef, Esther Walton, Mingyuan Wang, Yunpeng Wang, Joanna M. Wardlaw, Wei Wen, Lars T. Westlye, Christopher D. Whelan, Stephanie H. Witt, Katharina Wittfeld, Christiane Wolf, Thomas Wolfers, Jing Qin Wu, Clarissa L. Yasuda, Dario Zaremba, Zuo Zhang, Marcel P. Zwiers, Eric Artiges, Amelia A. Assareh, Rosa Ayesa-Arriola, Aysenil Belger, Christine L. Brandt, Gregory G. Brown, Sven Cichon, Joanne E. Curran, Gareth E. Davies, Franziska Degenhardt, Michelle F. Dennis, Bruno Dietsche, Srdjan Djurovic, Colin P. Doherty, Ryan Espiritu, Daniel Garijo, Yolanda Gil, Penny A. Gowland, Robert C. Green, Alexander N. Husler, Walter Heindel, Beng-Choon Ho, Wolfgang U. Hoffmann, Florian Holsboer, Georg Homuth, Norbert Hosten, Clifford R. Jack Jr., MiHyun Jang, Andreas Jansen, Nathan A. Kimbrel, Knut Kolskr, Sanne Koops, Axel Krug, Kelvin O. Lim, Jurjen J. Luykx, Daniel H. Mathalon, Karen A. Mather, Venkata S. Mattay, Sarah Matthews, Jaqueline Mayoral Van Son, Sarah C. McEwen, Ingrid Melle, Derek W. Morris, Bryon A. Mueller, Matthias Nauck, Jan E. Nordvik, Markus M. Nthen, Daniel S. OLeary, Nils Opel, Marie-Laure Paillre Martinot, G. Bruce Pike, Adrian Preda, Erin B. Quinlan, Paul E. Rasser, Varun Ratnakar, Simone Reppermund, Vidar M. Steen, Paul A. Tooney, Fbio R. Torres, Dick J. Veltman, James T. Voyvodic, Robert Whelan, Tonya White, Hidenaga Yamamori, Hieab H. H. Adams, Joshua C. Bis, Stephanie Debette, Charles Decarli, Myriam Fornage, Vilmundur Gudnason, Edith Hofer, M. Arfan Ikram, Lenore Launer, W. T. Longstreth, Oscar L. Lopez, Bernard Mazoyer, Thomas H. Mosley, Gennady V. Roshchupkin, Claudia L. Satizabal, Reinhold Schmidt, Sudha Seshadri, Qiong Yang, Alzheimers Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN Consortium, IMAGEN Consortium, SYS Consortium, Parkinsons Progression Markers Initiative, Marina K. M. Alvim, David Ames, Tim J. Anderson, Ole A. Andreassen, Alejandro Arias-Vasquez, Mark E. Bastin, Bernhard T. Baune, Jean C. Beckham, John Blangero, Dorret I. Boomsma, Henry Brodaty, Han G. Brunner, Randy L. Buckner, Jan K. Buitelaar, Juan R. Bustillo, Wiepke Cahn, Murray J. Cairns, Vince Calhoun, Vaughan J. Carr, Xavier Caseras, Svenja Caspers, Gianpiero L. Cavalleri, Fernando Cendes, Aiden Corvin, Benedicto Crespo-Facorro, John C. Dalrymple-Alford, Udo Dannlowski, Eco J. C. de Geus, Ian J. Deary, Norman Delanty, Chantal Depondt, Sylvane Desrivires, Gary Donohoe, Thomas Espeseth, Guilln Fernndez, Simon E. Fisher, Herta Flor, Andreas J. Forstner, Clyde Francks, Barbara Franke, David C. Glahn, Randy L. Gollub, Hans J. Grabe, Oliver Gruber, Asta K. Hberg, Ahmad R. Hariri, Catharina A. Hartman, Ryota Hashimoto, Andreas Heinz, Frans A. Henskens, Manon H. J. Hillegers, Pieter J. Hoekstra, Avram J. Holmes, L. Elliot Hong, William D. Hopkins, Hilleke E. Hulshoff Pol, Terry L. Jernigan, Erik G. Jnsson, Ren S. Kahn, Martin A. Kennedy, Tilo T. J. Kircher, Peter Kochunov, John B. J. Kwok, Stephanie Le Hellard, Carmel M. Loughland, Nicholas G. Martin, Jean-Luc Martinot, Colm McDonald, Katie L. McMahon, Andreas Meyer-Lindenberg, Patricia T. Michie, Rajendra A. Morey, Bryan Mowry, Lars Nyberg, Jaap Oosterlaan, Roel A. Ophoff, Christos Pantelis, Tomas Paus, Zdenka Pausova, Brenda W. J. H. Penninx, Tinca J. C. Polderman, Danielle Posthuma, Marcella Rietschel, Joshua L. Roffman, Laura M. Rowland, Perminder S. Sachdev, Philipp G. Smann, Ulrich Schall, Gunter Schumann, Rodney J. Scott, Kang Sim, Sanjay M. Sisodiya, Jordan W. Smoller, Iris E. Sommer, Beate St Pourcain, Dan J. Stein, Arthur W. Toga, Julian N. Trollor, Nic J. A. Van der Wee, Dennis van t Ent, Henry Vlzke, Henrik Walter, Bernd Weber, Daniel R. Weinberger, Margaret J. Wright, Juan Zhou, Jason L. Stein, Paul M. Thompson, Sarah E. Medland, Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)Genetics working group

Science20 Mar 2020

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The genetic architecture of the human cerebral cortex - Science Magazine

SIOUX FALLS, S.D. Averas laboratory in Sioux Falls has been verified by the South Dakota Department of Health to perform COVID-19 testing, according to a news release.

The additional testing site will allow for the processing of up to 200 tests per day.

The Avera Institute for Human Genetics has worked closely with the governors office as well as the state health department to establish guidelines on how pending tests are processed, the release states.

The most critical and highly suspicious tests will receive priority. Result time will depend on volume, however, most test results will be able to be returned in a few days and inpatient tests that are considered urgent based on the patients condition can be returned more quickly.

So far, testing for COVID-19 has been conducted by the state health departments laboratory and Averas contract laboratory.

All test results will be sent to the state for reporting purposes. Patients with positive test results will be contacted with instructions on how to care for themselves at home, symptom management, and when to contact a health care provider if symptoms worsen.

As a public service, weve opened this article to everyone regardless of subscription status.

Link:
Avera announces ability to test for COVID-19 in South Dakota - The Dickinson Press

Editors note: The Salt Lake Tribune is providing readers free access to critical local stories about the coronavirus during this time of heightened concern. See more coverage here.

University of Utah experts are expressing concern about the hype surrounding two medications that President Donald Trump and state officials have held up as potential treatments for the coronavirus.

Andy Pavia, chief of pediatric infectious disease at the U., is also urging caution, noting that the nations top infectious disease expert has warned that there is no convincing evidence yet that these drugs work, only stories.

The drugs have been used for years for arthritis, psoriasis and malaria, and are available in Utah pharmacies through prescription by doctors. But Grunwald said casting the unproven medications as a potential treatment for coronavirus could incite panic buying and limit the availability of the drugs for sick patients who depend on them.

The geneticist said hes not asserting that the drugs are necessarily ineffective just that they are wholly unproved.

I am simply saying defying the principles of reviewed science has dangerous consequences, especially seen in a community that is fearful and in an environment that is susceptible to panicked behavior, said Grunwald, who is a scientist, but not a medical doctor.

The drugs have not been approved by the Food and Drug Administration for COVID-19 although Utah officials said Friday that doctors still may prescribe them for COVID-19 patients here and say evidence shows they should.

On the other hand, Pavia said medical experts dont yet have good data about whether the drugs are effective against the virus.

We need to be very cautious until we have better information. In fact, chloroquine worked in the test tube against other viruses but proved to be potentially harmful when properly studied, he said. "We hope it works, but hope is not the best way to choose safe and effective treatment.

The information that youre referring to specifically is anecdotal, Fauci told reporters. It was not done in a controlled clinical trial. So you really cant make any definitive statement about it.

Trump, standing next to Fauci, still said the federal government has ordered millions of doses. He also said the nation has nothing to lose by trying it.

During Fridays news conference, Utah officials and medical representatives were essentially saying the same things as the president.

There are responses that are equivalent to Lazarus literally the biblical Lazarus people almost dead coming back, said physician Kurt Hegmann, director of the Rocky Mountain Center for Occupational and Environmental Health at the University of Utah, about hydroxychloroquine.

Officials said they are surveying Utah pharmacies to see how much of the drugs they now have on hand and are working with other states to develop plans for distributing the drugs to areas in need.

They also cautioned doctors and pharmacists to be judicious in how they dispense the drugs for now.

Utah Senate President Stuart Adams said the news conference about the drugs was called to give worried Utahns some hope.

We need some good news. We think this is good news, the Layton Republican said. We believe theres hope in America.

Utahs state epidemiologist, Angela Dunn, said last week that a lot of scientists internationally and in the U.S. are studying medications that could help treat COVID-19. Most have involved extremely small patient groups, she noted.

Current studies about the malaria drugs specifically have been very small sample sizes one in particular was only 40 people so its difficult to extrapolate that to large population," she said. So the next step is to do studies with bigger populations to see if its effective.

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University of Utah experts advise caution over drugs hyped as possible coronavirus treatments - Salt Lake Tribune

Clement Chow, an assistant professor of human genetics at The University of Utah, US, tweeted last week that he was in the ICU with coronavirus. And that's when researchers who had attended a meeting with him found out about it. At a time when experts are stressing on testing and contract tracing to check community transmission, this incident reveals serious and massive gaps in America's fight against COVID-19.

"Hi guys. Have you missed me? Ive been in the ICU fighting...wait for it...Coronavirus! I am the first case at the U of U ICU! Breaking the bamboo ceiling!," tweeted Chow on March 16. He further said, "Basically had a low-grade fever for a few days then a bad cough, that turned into respiratory failure. I came in and they had to put me on high flow oxygen (3 times normal)...hence ICU."

According to a March 20 report in Nature, two dozen geneticists who had attended a meeting with him nine days earlier subsequently saw the tweet and came to know that Chow had tested positive for COVID-19. While the researchers were worried for Chow, they were also upset that this was the first they had heard about it, says the report.

The fact that we learned about this from a tweet points to a failure of our department of health. But maybe we can come together with grass-root responses, Nels Elde, also an associate professor of human genetics at The University of Utah in Salt Lake City, told Nature. He had reportedly shared a dinner plate with Chow before he was diagnosed with COVID-19.

Elde tweeted to Chow on March 16 and said, "Was going through our text messages and your decision to self-quarantine early for cold-like symptoms that you were convinced was not SARS-CoV-2 was a good one and good example for us all. Get well soon @ClementYChow."

Chow further explained that his breathing was so compromised that he could not keep his oxygen levels up even with "10L of oxygen." He said while he was the first COVID19 patient in the ICU on March 19, there are more now. "Important point: we really dont know much about his virus. Im young and not high risk, yet I am in the ICU with a very severe case," said Chow.

Another researcher who had attended the meeting with Chow described how the group from 16 states "scrambled to work out who they had spent time with since returning home from the meeting." "They were upset that four days had passed between when their colleague was hospitalized with symptoms of COVID-19 and when they found out, through Twitter, that he had the disease. Another 24 hours would pass before an email from Utahs public-health departments made it their way. Every passing minute, the virus has a chance to move to someone else," reports Nature.

Meanwhile, the researchers who learned of their exposure through Twitter are taking precautionary measures by taking their temperatures and self-quarantining themselves.

Over 33,270 cases have been reported in the US so far, and 417 have died. New York state accounts for 117 deaths currently, passing Washington state, the initial epicenter of the pandemic in the US, in the number of fatal cases.

According to experts, contact tracing is important as people in close contact with someone who is infected with a virus, such as the COVID-19 virus are at higher risk of becoming infected themselves and of potentially further infecting others.

An analysis of Singapores containment measures that were implemented to minimize disease spread, for example, shows that contact tracing contributed to the primary detection of approximately half (53%) of COVID-19 patients. The study, based on a review of the first 100 cases in Singapore, shows that the mean interval from symptom onset to isolation was 5.6 days and declined after approximately 1 month.

Singapore implemented strong surveillance and containment measures, which appear to have slowed the growth of the outbreak. The study estimated that if other countries had similar detection capacities as Singapore, the global number of imported cases detected would be 2.8 times higher than the observed current number, said the report. It added, The surveillance methods in Singapore complemented one another to identify infected persons, with the overlapping components constituting safety nets; none of the methods alone would have detected all patients.

During a media briefing on March 16, the World Health Organization (WHO) Director-general Dr Tedros Adhanom Ghebreyesus had said that while there has been a rapid escalation in social distancing measures across countries, they have not seen an urgent enough escalation in testing, isolation and contact tracing which, he said, was the backbone of the COVID-19 response. "We have a simple message for all countries: test, test, test, he had emphasized.

Dr Ghebreyesus explained that while social distancing measures can help to reduce transmission and enable health systems to cope, such measures alone would not be enough to "extinguish this pandemic." "Its the combination that makes the difference. As I keep saying, all countries must take a comprehensive approach, he said.

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Coronavirus: Massive gap in US response revealed after scientists learn colleague tested positive through twee - MEAWW

Dr. Segun Fatumo is a computer scientist with specialization in bioinformatics with keen interest in the genetic impact of non-communicable diseases in Africa and bioinformatics capacity building in Africa. He has been involved in various genetic projects including analysing a large-scale genomic dataset from Ugandan population. During his PhD, he was able to identified twenty-two (22) potential novel drug targets against malaria. Currently, he is an Assistant Professor at the London School of Hygiene and Tropical Medicine (University of London). Genetic Literacy Project (GLP) interviewed him to shed more light on the importance, challenges and future direction of a recent genetic research that he was a leading author.

As one of the lead authors of your recently published paper, what motivated this research project?

Precision medicine is fundamentally going to change healthcare. Genomic medicines is a key component of precision medicine with enormous potential to inform clinical medicine. One potential limitation to genomic medicine is the underrepresentation of African and other populations in genomics research. Previous studies have warned that a much broader range of populations should be investigated to avoid genomic medicine being of benefit merely to a privileged few. This is especially problematic, as previous studies have shown that Africa studies contribute an outsized number of associations relative to studies of similar sizes in Europeans. To demonstrate the potential of African genomes as a great resource for genomic medicine, we collected and analyzed genome-wide data from 6,407 individuals from Uganda.

What is the value of collecting more genomic data from African populations which are badly underrepresented in genomic databases.

Our findings from even modest side studies highlight the importance and usefulness of examining genetically diverse populations within Africa. Findings from large-scale studies from Africa may foster the development of new treatments that will benefit people living in Africa as well as people of African descent around the world.

What sort of challenges did you face in the study, and how did you overcame them?

So many challenges including community engagement, ethics, recruitment, etc. Globally, genomics research and specifically recruitment of participants regardless of the continent is always challenging. However, 60% of Africans live in rural areas. Prospective participants are more likely to be poor and to have limited access to healthcare and education. This means that the carrying out of research in these settings invariably presents challenges of a different order to those in higher income countries. Researchers should not exploit these challenges.

Is the value of this research project beyond Uganda and why?

Yes. Findings from our study may foster the development of new treatments that will benefit people living in Africa as well as people of African descent around the world.

What were the responses that you have received so far about the findings?

Enormous responses. I find it difficult to attend to all media requests.

What is the future direction of the research?

While there is an urgent need to perform large-scale genomic research in Africa, several ongoing initiatives such as H3Africa and the Nigerian 100K Non-Communicable Diseases Genetic Heritage Study (NCD-GHS) could provide the data to improve the evidence base and make genome medicine useful to diverse populations.

How do you see the future of genetics and bioinformatics in Africa?

I think we are now on the right track. We have established the Nigerian Bioinformatics and Genomics Network (NBGN). There are also other initiatives. We are now focusing on building capacity in Africa.

Olumide Odeyemi is a research scientist with a doctoral degree from the University of Tasmania, Australia. His areas of expertise and interest include food microbiology, microbial food safety and quality, aquaculture microbiology and research communication. Follow him on Twitter @olumide_odeyemi

Dr. Segun Fatumo is an assistant professor of genetic epidemiology and bioinformatics at the London School of Hygiene & Tropical Medicine. Follow him on Twitter @SFatumo

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Studying the African genome could yield new medical treatments for everyone - Genetic Literacy Project

By Caitlin O'Hara for UCSB Arts & Lectures | January 15, 2020 | 9:00 a.m.

UCSB Arts & Lectures and the Cancer Foundation of Santa Barbara co-present Understanding Genetics and Cancer, a free community event featuring Mary-Claire King, the scientist who discovered the BRCA1 gene,7:30 p.m. Thurs., Feb. 6, at UCSB Campbell Hall.

King's lecture will be followed by a panel of experts discussing genetics, cancer and you, providing resources and answering pertinent questions

UCSB Arts & Lectures and the Santa Barbara Cancer Foundation will present a free community event Understanding Genetics and Cancer, featuring a lecture by human geneticist Mary-Claire King, the scientist who discovered the BRCA1 gene.

Her talk, at 7:30 p.m. Thursday, Feb. 6, at UCSB Campbell Hall, will be followed by a panel of experts discussing genetics, cancer and you.

King discovered the genetic mutation responsible for breast cancer, a finding that has revolutionized the course of cancer research and transformed the way patients are diagnosed and treated.

A recipient of the National Medal of Science for her bold, imaginative and diverse contributions to medical science and human rights, Dr. King will discuss the genetics of inherited cancers.

Following the talk, a panel of experts will address genetics, cancer and you, including the following topics:

Lifestyle and cancer risk reductionFamily history and ethnicity risk factorsGenetic testing as cancer preventionPrivacy of genetic testing resultsBenefits and perils of ancestry testingLocal resources for cancer risk assessment and counseling

King is American Cancer Society professor in the Department of Medicine and the Department of Genome Sciences at the University of Washington in Seattle. She was the first to show that breast cancer is inherited in some families, as the result of mutations in the gene that she named BRCA1.

In addition to inherited breast and ovarian cancer, her research interests include the genetic bases of schizophrenia, the genetic causes of congenital disorders in children, and human genetic diversity and evolution.

King pioneered the use of DNA sequencing for human rights investigations, developing the approach of sequencing mitochondrial DNA preserved in human remains, then applying this method to the identification of kidnapped children in Argentina and subsequently to cases of human rights violations on six continents.

King grew up in Chicago. She received her bachelor's degree cum laude in mathematics from Carleton College in Northfield, Minn.; her doctorate in genetics from the University of California at Berkeley; and her postdoctoral training at UC San Francisco.

Her Ph.D. dissertation with Allan Wilson was the demonstration that protein-coding sequences of humans and chimpanzees are 99 percent identical. She was professor at UC Berkeley from 1976-95 and at the University of Washington in Seattle since 1995.

King has served on multiple councils and study sections of the N.I.H. and the U.S. National Academy of Sciences. She was consultant to the Commission on the Disappearance of Persons of the Republic of Argentina and carried out DNA identifications for the United Nations War Crimes Tribunals.

She is past president of the American Society of Human Genetics and a past member of the Council of the National Academy of Sciences. King has been elected to the American Academy of Arts and Sciences, the National Academy of Medicine, American Philosophical Society, and as a foreign member of the French Academy of Sciences.

Understanding Genetics and Cancer is co-presented by UCSB Arts & Lectures and the Cancer Foundation of Santa Barbara in association with Breast Cancer Resource Center, Ridley-Tree Cancer Center at Sansum Clinic, Santa Barbara Neighborhood Clinics and UCSB Department of Molecular, Cellular and Developmental Biology.

Sponsored by the Cancer Foundation of Santa Barbara, supporter of the Ridley-Tree Cancer Center and its Genetic Counseling Program.

For more, call UCSB Arts & Lectures, 805-893-3535 or visit http://www.ArtsAndLectures.UCSB.edu.

UCSB Arts & Lectures acknowledges Community Partners the Natalie Orfalea Foundation & Lou Buglioli and Corporate Season Sponsor SAGE Publishing for their support of the 2019-20 season.

Caitlin O'Hara for UCSB Arts & Lectures.

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Scientist Who Discovered BRCA1 Gene to Give Free Talk on Cancer And Genetics - Noozhawk

NUTLEY, N.J., Jan. 17, 2020 /PRNewswire/ --Genomic medicine's groundbreaking treatments, and its future promise, will be the focus of a full-day symposium at the Hackensack Meridian Health Center for Discovery and Innovation (CDI) on Wednesday, February 19.

This emerging discipline for tailoring active clinical care and disease prevention to individual patients will be the focus of presentations given by eight experts from medical centers in the U.S.A. and Canada.

"The Genomic Medicine Symposium convenes a diverse group of scientific experts who help serve as a vanguard for precision medicine," said David Perlin, Ph.D., chief scientific officer and vice president of the CDI. "At the Center for Discovery and Innovation, we are working to make genomics a central component of clinical care, and we are delighted to host our peers and partners from other institutions."

"The event is one-of-a-kind," said Benjamin Tycko, M.D., Ph.D., a member of the CDI working in this area, and one of the hosts. "We are bringing together great minds with the hope it will help inform our planning for genomic medicine within Hackensack Meridian Health and inspire further clinical and scientific breakthroughs."

Cancer treatments, neuropsychiatric and behavioral disorders, cardiometabolic conditions, autoimmune disease, infectious disease, and a wide array of pediatric conditions are areas where DNA-based strategies of this type are already employed, and new ones are being tested and refined continually.

The speakers come from diverse medical institutions and will talk about a variety of clinical disorders in which prevention, screening, and treatment can be informed through genomic and epigenomic data.

Among the speakers are: Daniel Auclair, Ph.D., the scientific vice president of the Multiple Myeloma Research Foundation; Joel Gelernter, M.D., Ph.D., Foundations Fund Professor of Psychiatry and Professor of Genetics and of Neuroscience and Director, Division of Human Genetics (Psychiatry) at Yale University; James Knowles, M.D., Ph.D., professor and chair of Cell Biology at SUNY Downstate Medical Center in Brooklyn; Tom Maniatis, Ph.D., the Isidore S. Edelman Professor of Biochemistry and Molecular Biophysics, director of the Columbia Precision Medicine Initiative, and the chief executive officer of the New York Genome Center; Bekim Sadikovic, Ph.D., associate professor and head of the Molecular Diagnostic Division of Pathology and Laboratory Medicine at Western University in Ontario; Helio Pedro, M.D., the section chief of the Center for Genetic and Genomic Medicine at Hackensack University Medical Center; Kevin White, Ph.D., the chief scientific officer of Chicago-based TEMPUS Genetics; and Jean-Pierre Issa, M.D., Ph.D., chief executive officer of the Coriell Research Institute.

The event is complimentary, but registration is required. It will be held from 8 a.m. to 4:30 p.m. at the auditorium of the CDI, located at 111 Ideation Way, Nutley, N.J.

The event counts for continuing medical education (CME) credits, since Hackensack University Medical Center is accredited by the Medical Society of New Jersey to provide continuing medical education for physicians.

Hackensack University Medical Center additionally designates this live activity for a maximum of 7 AMA PRA Category 1 Credit TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

For more information, visit https://www.hackensackmeridianhealth.org/CDIsymposium.

ABOUTHACKENSACKMERIDIAN HEALTH

Hackensack Meridian Health is a leading not-for-profit health care organization that is the largest, most comprehensive and truly integrated health care network in New Jersey, offering a complete range of medical services, innovative research and life-enhancing care.

Hackensack Meridian Health comprises 17 hospitals from Bergen to Ocean counties, which includes three academic medical centers Hackensack University Medical Center in Hackensack, Jersey Shore University Medical Center in Neptune, JFK Medical Center in Edison; two children's hospitals - Joseph M. Sanzari Children's Hospital in Hackensack, K. Hovnanian Children's Hospital in Neptune; nine community hospitals Bayshore Medical Center in Holmdel, Mountainside Medical Center in Montclair, Ocean Medical Center in Brick, Palisades Medical Center in North Bergen, Pascack Valley Medical Center in Westwood, Raritan Bay Medical Center in Old Bridge, Raritan Bay Medical Center in Perth Amboy, Riverview Medical Center in Red Bank, and Southern Ocean Medical Center in Manahawkin; a behavioral health hospital Carrier Clinic in Belle Mead; and two rehabilitation hospitals - JFK Johnson Rehabilitation Institute in Edison and Shore Rehabilitation Institute in Brick.

Additionally, the network has more than 500 patient care locations throughout the state which include ambulatory care centers, surgery centers, home health services, long-term care and assisted living communities, ambulance services, lifesaving air medical transportation, fitness and wellness centers, rehabilitation centers, urgent care centers and physician practice locations. Hackensack Meridian Health has more than 34,100 team members, and 6,500 physicians and is a distinguished leader in health care philanthropy, committed to the health and well-being of the communities it serves.

The network's notable distinctions include having four hospitals among the top 10 in New Jersey by U.S. News and World Report. Other honors include consistently achieving Magnet recognition for nursing excellence from the American Nurses Credentialing Center and being named to Becker's Healthcare's "150 Top Places to Work in Healthcare/2019" list.

The Hackensack Meridian School of Medicine at Seton Hall University, the first private medical school in New Jersey in more than 50 years, welcomed its first class of students in 2018 to its On3 campus in Nutley and Clifton. Additionally, the network partnered with Memorial Sloan Kettering Cancer Center to find more cures for cancer faster while ensuring that patients have access to the highest quality, most individualized cancer care when and where they need it.

Hackensack Meridian Health is a member of AllSpire Health Partners, an interstate consortium of leading health systems, to focus on the sharing of best practices in clinical care and achieving efficiencies.

For additional information, please visit http://www.HackensackMeridianHealth.org.

About the Center for Discovery and Innovation:

The Center for Discovery and Innovation, a newly established member of Hackensack Meridian Health, seeks to translate current innovations in science to improve clinical outcomes for patients with cancer, infectious diseases and other life-threatening and disabling conditions. The CDI, housed in a fully renovated state-of-the-art facility, offers world-class researchers a support infrastructure and culture of discovery that promotes science innovation and rapid translation to the clinic.

View original content to download multimedia:http://www.prnewswire.com/news-releases/hackensack-meridian-health-center-for-discovery-and-innovation-to-host-genomic-medicine-symposium-300989060.html

SOURCE Hackensack Meridian Health

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Hackensack Meridian Health Center for Discovery and Innovation to Host Genomic Medicine Symposium - P&T Community

The personal, the political, and the science of ancestry tests.

Palestinian-American cartoonist and illustrator MargueriteDabaiespat into a test-tube and sent her DNA off to the genetic testing company, 23andMe.

To her surprise the results told her somethingsignificantlydifferent to what she understood about herself and her family.

Then, two years later, 23andMe sent her an update, andthe resultsradicallychanged.

Whats going on? And, with what consequences?Is genomic science way too white?

This is one of your and our favourite Science Friction features from the year for ABC RN's Summer Season.

One of your and our favourite Science Friction programs from 2019 for the RN Summer Season.

GUESTSMargueriteDabaieCartoonist and illustrator, New YorkDr Joanna MountainSenior Director of Research23andMe, USAProfessor SarahTishkoffDavid and LynSilfenUniversity Professor in Genetics and BiologyUniversity of Pennsylvania, USA

FURTHER INFORMATION23andMe doesnt know what makes a PalestinianCartoon by MargueriteDabaie(The Nib, 2019)

23andMes Global Genetics Project

The missing diversity in human genetics studiesGiorgioSirugo, Scott M. Williams, Sarah A.TishkoffCell,177, March212019

Presenter:Natasha Mitchell

Producers:Natasha Mitchell and Jane Lee

Sound engineer:Ariel Gross

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Do genetic ancestry tests know if you're Palestinian? A cautionary tale of race and science - ABC News

Users pay 100 to the Silicon Valley company 23andme for a breakdown of their ancestryALAMY

The ancestry company 23andme has become the worlds first genetics testing firm to create a drug created from its customers DNA samples.

The Silicon Valley company has developed and sold a drug designed to treat inflammatory diseases such as psoriasis. It is based on its database of around 10 million DNA samples it has collected since it was founded in 2006.

23andme has sold the rights to the drug to the Spanish pharmaceutical company Almirall for an undisclosed sum.

The companys chief executive is Anne Wojcicki, whose sister, Susan, is the chief executive of YouTube and whose ex-husband Sergey Brin is the co-founder of Google.

It is one of several genetics companies that offers home testing kits which allow people to get a breakdown of

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Genetic testing firm 23andMe is first to create a drug using its customers' DNA - The Times

11-year-old Bertrand Might (center) surrounded by his family, including his father, Matt Might (second from right), and his mother, Cristina Might (second from left). Credit: The Might family

Scientists at Sanford Burnham Prebys Medical Discovery Institute have shown that cells from children with NGLY1 deficiency a rare disorder first described in 2012 lack sufficient water channel proteins called aquaporins. The discovery was published in Cell Reports and may help explain the disorders wide-ranging symptoms including the inability to produce tears, seizures and developmental delays and opens new avenues to find therapies to treat the disorder.

Our findings uncover a new and completely unexpected job for NGLY1, which was originally thought to only cleave sugars from proteins, says Hudson Freeze, Ph.D., director, and professor of the Human Genetics Program at Sanford Burnham Prebys and senior author of the study. This new information, which includes the molecular signals NGLY1 uses to drive aquaporin production, fundamentally shifts how we approach drug development. Most immediately, we can begin to screen for existing FDA-approved drugs that may increase aquaporin levels.

Burst cells are shown in orange, and intact cells are shown in blue (the dye used stains the DNA in a nucleus). Unlike normal cells (left), cells missing the NGLY1 protein (right) refused to split open when placed in distilled water. The cells pictured are from mice. Credit: Sanford Burnham Prebys

The first patient with NGLY1 deficiency, then-four-year-old Bertrand Might, was diagnosed in 2012. The condition occurs when both copies of the NGLY1 gene contain mutations. As a result, children with NGLY1 deficiency produce little or no N-glycanase1 a protein that removes sugars from proteins during the cells regular recycling process. Today, approximately 60 people in the world have been identified with NGLY1 deficiency. There is no cure, and existing treatments only address a few of the disorders symptoms.

This discovery is a giant leap forward in our understanding of NGLY1 deficiency and our ability to find a drug for the condition, says Matt Might, Ph.D., Bertrand Mights father and chief scientific officer of NGLY1.org, which funded the research. In addition to exploring new treatment avenues, we can immediately start to test currently available drugs to see if they may help Bertrand and other children living with NGLY1 deficiency.

Because of NGLY1s established role in helping recycle proteins, scientists predicted that cells that lack NGLY1 would fill with unrecycled proteins. However, despite numerous experiments by Freeze and others, this has not been observed.

Hudson Freeze, Ph.D., director and professor of the Human Genetics Program at Sanford Burnham Prebys and senior author of the study. Credit: Sanford Burnham Prebys

Mitali Tambe, Ph.D., a postdoctoral associate in the Freeze lab and the first author of the study, set out to shed light on this mystery when she made an unexpected discovery. While normal cells burst open when placed in distilled water, cells from children with an NGLY1 mutation refused to pop open.

At first I thought what every scientist initially thinks: I made a mistake, says Tambe. But this observation actually revealed a previously unknown role for NGLY1 protein.

The unexpected finding prompted the scientists to dig in deeper. In addition to studying skin cells from three children with NGLY1 deficiency, the researchers created human and obtained mouse cells that either lacked NGLY1 or produced excess amounts of the protein. In these studies, they found that cells that lacked the NGLY1 protein had fewer aquaporins proteins that connect the inside and outside of a cell and control water movement and were resistant to bursting open when placed in water. These results were reversed in cells that were given excess levels of NGLY1. The researchers also identified the molecular signals NGLY1 uses to instruct cells to produce aquaporins, proteins called Atf1 and Creb1, which may lead to useful drug targets.

In addition to regulating tear and saliva production, aquaporins are involved in many brain functions, such as cerebrospinal fluid production, explains Tambe. Lack of aquaporins may explain many of the symptoms seen in children who are NGLY1-deficient.

The scientists devised a clever experiment to determine if NGLY1 is regulating aquaporin levels through its expected sugar-removal function or in another manner. They created two cell types that either produced a normal NGLY1 protein or NGLY1 with the sugar-cleaving area disabled. The altered protein successfully altered aquaporin levels indicating that NGLY1 has a second function in addition to its sugar-removing (enzymatic) activities.

Our study shows there is more to NGLY1 than its well-known function of removing sugars from proteins, says Freeze. Together, our findings open important new paths to understanding the pathogenesis of NGLY1 deficiency and ultimately finding treatments.

Reference: N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity by Mitali A. Tambe, Bobby G. Ng and Hudson H. Freeze, 24 December 2019, Cell Reports.DOI: 10.1016/j.celrep.2019.11.097

Research reported in this article was supported by the Bertrand Might Research Fund and NGLY1.org. Additional study authors include Bobby Ng.

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11 Year-Old Bertrand Might Cant Cry Scientists Have Now Discovered Why - SciTechDaily