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Category Archives: Human Genetics

Kallyope Inc. Announces $112M Series C Financing to Support First Clinical Trials and Advance Portfolio of Programs Targeting the Gut-Brain Axis – P&T…

Posted: March 26, 2020 at 6:29 am

NEW YORK, March 25, 2020 /PRNewswire/ -- Kallyope Inc., a leading biotechnology company focused on identifying and pursuing therapeutic opportunities involving the gut-brain axis, today announced a $112 million Series C financing. This financing will be used to advance its portfolio of programs and the company's first clinical trials, further establishing its leadership in the gut-brain axis field.

All investors from the Series B financing participated in the Series C round, including The Column Group, Lux Capital, Polaris Partners, Euclidean Capital, Two Sigma Ventures, Illumina Ventures, Alexandria Venture Investments, and Bill Gates. New investors include Casdin Capital, Greenspring Associates, and two unnamed leading institutional investors.

"Four years ago, we started our journey to build a preeminent biotech based in New York City as a first-mover in the gut-brain axis space. Now, this Series C financing will enable us to advance multiple programs to clinical development," said Kallyope CEO Nancy Thornberry.

The Series C financing comes after four highly productive years in which Kallyope has built a portfolio of programs directed to novel targets in a wide array of diseases. In support of these programs, the company has established industry-leading capabilities in designing oral small-molecule drugs that selectively target the gut but not the rest of the body.

The company today also announced its lead program targeting satiety circuits for weight loss, with clinical testing expected to begin later this year. A second program targeting gut barrier function with potential relevance for inflammatory bowel disease (IBD) and several other diseases is anticipated to enter the clinic soon after. In addition, the company continues to advance a broad portfolio of programs for gastrointestinal, CNS, and inflammatory disorders.

"Kallyope pursues programs where the company's platform provides an edge over other approaches and where we have an opportunity to deliver major clinical benefits rather than incremental improvements over current treatments. We are targeting neural and hormonal circuits, including novel vagal circuits, involved in a broad array of physiology and disease," said Thornberry.

"Kallyope has made significant progress since the company's inception in late 2015. Its platform is enabling a mechanistic understanding of the gut-brain axis, which in turn has revealed new, actionable biology that the company is now exploring in several promising programs. I believe that Kallyope's platform and rigorous approach to identifying, characterizing, and targeting gut-brain circuits with gut-restricted small molecules has greatly increased its odds of success in clinical studies," said Kallyope co-founder and board member Tom Maniatis, Ph.D.

About Kallyope Inc.

Kallyope, headquartered at the Alexandria Centerfor Life Science in New York City, is a biotechnology company dedicated to unlocking the therapeutic potential of the gut-brain axis. The company's cross-disciplinary team integrates advanced technologies in sequencing, bioinformatics, neural imaging, cellular and molecular biology, and human genetics to provide an understanding of gut-brain biology that leads to transformational therapeutics to improve human health. The company's founders are Charles Zuker, Ph.D., Lasker Award winner Tom Maniatis, Ph.D., and Nobel laureate Richard Axel, M.D. For more information


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Kallyope Inc. Announces $112M Series C Financing to Support First Clinical Trials and Advance Portfolio of Programs Targeting the Gut-Brain Axis - P&T...

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The Coronavirus Pandemic Shows Us The Importance Of Combatting Climate Change – Forbes

Posted: at 6:29 am

The common fruit fly which lives one to two months, suggesting insignificance has changed the world through medical research, leading to eight Nobel prizes in human genetics and disease prevention breakthroughs. Today an even smaller organism, Coronavirus, is changing the world even more significantly.

And confronting it with the same opportunity for breakthroughs as scientists treated fruit flies could hold the key to solving our greatest challenge climate change.

Of course, all of the coronaviruses impacts sickness, deaths, economic crises have been negative. But, like the scientists who saw something unique in the fruit fly instead of just an unwelcome pest, coronavirus offers us a unique opportunity: visceral lessons in how to approach future crises, and the horrible costs of not doing so.

First among those lessons is taking authoritative warnings seriously, even when that may result in tough decisions. We have been warned repeatedly over the last decade that a pandemic was an existential threat to our way of life. At the end of 2019, when the late Chinese doctor Li Wenliang first reported his alarm over a coronavirus outbreak, authorities detained him for spreading rumors. If they had acted on his warning, the spread in China would have been less severe.

But by January 21, 2020 China had 278 confirmed cases, other countries had 282, and the World Health Organization issued its first coronavirus advisory. Instead of preparing for the virus inevitable spread to the United States, President Donald Trump downplayed the risk, comparing it to a bad case of the flu. Two months later, tens of thousands of Americans have tested positive for the virus and millions more are under shelter-in-place rules, threatening to send the global economy into a devastating tailspin.

Unfortunately, weve consistently made these same mistakes of ignoring scientific warnings when dealing with other global crises, especially climate change. Beginning in June 1988, when climate scientist James Hansen warned Congress that global warming had begun, climate scientists predictions have repeatedly and increasingly warned of impending crises, and how climate change is accelerating faster than expected much like the Coronavirus. Sadly, the government response has ranged from non-existent to lacking.

Thirty years after Hansens warning, President Trump dismissed an official U.S. government assessment of climate changes risks in 2018, saying I dont believe it. As temperatures have risen, so too has the cost of inaction. From 1979 to 2017, the cost of global climate change-related disasters has increased 150%, costing $2.25 trillion, with the U.S. bearing the brunt of the financial pain at $945 billion nearly twice Chinas second-highest total of $492 billion.

Fortunately, in the battle against coronavirus, countries like South Korea that embrace science-based health warnings and act decisively are able to flatten the curve of the coronavirus spread to reduce infections and deaths. But when it comes to climate change, despite global accords such as the Paris Agreement, the world is still struggling to act decisively and in unison.

The Trump administration stands out with its rejection of science-based climate change policy, compounding decades of foot dragging by rolling back and undermining Obama administration efforts to rein in and reduce greenhouse gas emissions from coal, oil, and auto tailpipes. As of the end of 2019, a New York Times analysis identified 95 environmental rules that are being rolled back by the White House.

A key Trump environmental program roll back is expected to be finalized by the end of March. The administration is relaxing the auto greenhouse gas and fuel economy standards that President Obama announced in 2012. The first national program to reduce transportation greenhouse gas emissions, it was based on science, engineering capabilities, business capacities, as well as environmental and health benefits. It would have doubled fuel economy to 54.5 miles per gallon (mpg) by 2025, eliminated 6 billion tons of carbon dioxide, and saved consumers $1.7 trillion at the pump. It appeared the U.S. was finally listening to climate scientists.

But in early 2017 with Trump at the helm, the auto industry, amidst several years of record sales and profits, found an opportunity to renege on its commitment to the standards and asked the White House to relax the Obama administrations standards. After extensive analysis, the U.S. Environmental Protection Agencys scientists and auto engineers had recently re-affirmed the program. But facts were no longer in control of the process.

The final rule targets the standards for the 2021-2026 period. It is widely expected to pull back the standards to 37 mpg and reduce the annual fuel economy improvement to 1.5%, down from the current 5%.

Here is the rub. Transportation is now the fastest growing sector driving increased U.S. greenhouse gas emissions. Even the Obama administrations standards, which the Trump administration is trying to scale back, were never enough to address this gorilla in the room. A landmark study by the National Academy of Science in 2013 calculated that the worlds entire fleet of vehicles in 2025 would have to average around 180 mpg to limit warming to safe levels. As detailed in my book, Driving the Future, if we achieved the original 2025 target and enacted rules to continue the 5% annual improvement curve through 2050, we would only reach 80% of the target required to meet the Intergovernmental Panel on Climate Changes (IPCC) earlier target of 2C target of safe warming and the gap will be even greater to reach the new IPCC target of 1.5C.

The only pathway to reaching the IPCCs targets is transportation electrification. The administration should abandon the new rules they are developing, leave the current rules in place and begin work on the post 2025 standards. The auto industry has four to five year planning horizons and needs policy certainty. The world needs to avoid the scale of disruptions that climate change will bring even if the slow pace is deceiving.

The current coronavirus crisis has produced one near-miracle: The bitterly partisan U.S. Congress and federal government are quickly negotiating emergency legislation to deal with the public health and economic crises. Hopefully, reliance on science-based health measures will now guide the countrys approach to combatting coronavirus. And, while the world awaits the worst yet to come in coronavirus infections and deaths, the lessons from this pandemic could result in an approach to bi-partisan, scientifically driven commitment to combat climate change.

Like the seemingly insignificant fruit fly, confronting greenhouse gas and fuel economy standards could produce outsized breakthroughs on climate change. Like the coronavirus, listening to scientific warnings about climate change before it is too late could prevent outsized public health and economic tragedies.

And no, this is not a dream. The reality of global disruption is staring us all in the face. Blinking is not an option.

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Veralox Therapeutics is a startup currently headquartered at the Frederick Innovation Technology Center, Inc. (FITCI) in Frederick, Maryland. As a small molecule therapeutics company focused on developing medicines targeting the arachidonic acid pathway, they have two drug products in development for the treatment of a rare blood disorder known as heparin-induced thrombocytopenia and thrombosis and Type 1 Diabetes.

The BioBuzz team recently caught up with Veraloxs CEO Dr. Jeff Strovel, who spoke about the genesis of Veralox, its advancing pipeline, the companys recent milestones and its outlook for the future.

Tell our audience a bit about the founding of Veralox Therapeutics

Ill never forget the day a trusted colleague, David Maloney, called me when I was driving back to my office. He told me he had been working to develop a clinical candidate that selectively targeted the arachidonic acid (AA) pathway through inhibition of a protein called 12-Lipoxygenase. He believed the program was ready to be brought into a company, and there was potential for broad therapeutic utility of the inhibitor, which was intriguing. I have heard a lot of drug program pitches and usually get a sense of where the holes are pretty quickly. In this case, we talked for 30 minutes and afterward I knew this program was ready for company formation. Our first product in development, VLX-1005, is for treatment of the rare blood disorder heparin-induced thrombocytopenia & thrombosis (HITT) which also happens to be the same blood disorder that nearly killed my father years ago. We started the company in 2017 along with Daves colleague from the NCATS (National Center for Advancing Translational Sciences) at the NIH, Matt Boxer, with our rare disease blood disorder drug as our lead candidate. I feel the stars really aligned for us and we have been charging ahead ever since.

Dave, in collaboration with several other partners, led the development of our lead candidate, VLX-1005 while he was a chemistry Group Leader at NCATS.

What is your life science background and what did you do prior to co-founding Veralox?

I hold a Ph.D. in Human Genetics from the University of Maryland School of Medicine. I then went on to be a clinical cytogenetics fellow at the National Cancer Institute Department of Pathology at the NIH. While at NIH I developed a drug target ID platform that got the interest of companies doing cancer drug discovery and I eventually joined a company called Avalon, where I worked in drug discovery and development for about 9 years and served my last two years as Head of Translational Oncology. I learned a great deal about the drug discovery and development process during my time there.

After Avalon I was part of a group of local life science veterans that co-founded the Clinical Research Organization (CRO) Noble Life Sciences. The CRO also served as a kind of incubator for new companies. We incubated several new companies like Neximmune and Convergene Pharmaceuticals, where I served as Chief Scientific Officer and President from 2011 to 2015 before taking on the Chief Executive role from 2015 to 2017. During that time I had met and worked with Dave and I left Convergene to start Veralox with him and our other co-founder Matthew Boxer.

What is Veraloxs lead drug candidate, what disease does it target and where does it sit in the development process?

Our lead drug candidate is for the treatment of patients with HITT, which is a rare, life-threatening disease caused by an immune reaction to Heparin. This drug candidate is a small molecule product that inhibits the 12-lipoxygenase (12-LOX) enzyme which produces 12-HETE. Both 12-LOX and 12-HETE are implicated in numerous diseases. The only FDA-approved drug for HIT/HITT, argatroban, doesnt treat the underlying cause of the disease and has significant potential side effects leaving a significant unmet need.

There are approximately 50,000 people that will be diagnosed with HIT/HITT in the US this year but the number of those treated for this disease is approximately 150,000 annually. HIT takes time to diagnose and doctors cant wait for a definitive diagnosis to make treatment decisions. If patients are suspected of having the disease they must be treated immediately given the risk for deadly thrombosis. The current approved treatment, argatroban, can cause major bleeds which in and of itself can lead to death in these patients. Better drugs are needed that address the pathology of the disease without contributing potentially lethal side effects.

Our HIT treatment inhibits the underlying pathophysiology of HITT to halt the aberrant immune response driving the disease and essentially offering the potential of a curative modality.

Weve been strategically focused on HIT/HITT, but our approach has potential for a number of other indications. For our HIT/HITT drug candidate, weve submitted our Orphan Drug application and our pre-IND (Investigational New Drug) briefing book to the FDA; we expect to have our GMP material soon and to start GLP toxicology studies in the second quarter of this year. Our team expects to submit the IND for our lead candidate by the end of 2020. We are also co-developing a small molecule, orally administered drug product. We plan to advance this candidate for the treatment for Type 1 Diabetes, which is about a year behind our HIT/HITT clinical candidate.

What are some recent Veralox funding milestones and what are the companys next funding steps?

Weve had success raising capital from grants and venture capital groups. Veralox received about 300K from NIHs Small Business Innovation Research (SBIR) Fund, Phase I, and $300K from NIHs Small Business Technology Transfer (STTR) Fund. We also recently closed a $5.4M seed round that was co-led by Sanofi Ventures and the JDRF T1D Fund and included participation from the VTC Innovation and VTC Seed Fund, the Maryland Momentum Fund, the University of Vermont Health Network and TEDCO.

We are currently raising Series A funding to support clinical development of VLX-1005 for HITT and advance our second drug product for treatment of Type 1 Diabetes into clinical trials. Weve initiated discussions with several large venture capital firms all of which could lead our funding round and have the full support of our current investors in the process.

What can you tell us about your experience at FITCI and as a startup in the Frederick life science ecosystem?

Ive had experiences with other incubators, some of which no longer exist, but theres no comparison to FITCI. They offer great support to emerging companies that desperately need it at the early stages. I have been at other incubators that give you a physical place to do business, but FITCI really keeps an eye on you. The FITCI team helps you solve problems and they offer quarterly meetings for the CEOs to meet with groups of successful business people who can offer advice and provide mentorship for those in need. These mentors might not be in therapeutics but theyve done this before and can really help.

I really love Frederick because, to me, the area is just like a startup. Its really going somewhere. FITCI has two locations, but whenever we meet with people, we use the Market Street location in downtown Frederick. Its a nice face to show off to people from outside of the area. Our time at FITCI is nearing its end because of our funding success, but when we graduate from the incubator, the plan is to stay in Frederick. Weve already been looking at a few places.

What are some near term challenges for Veralox and where do you see the company being in three to five years?

Our biggest challenge is developing a completely novel first-in-class product. Theres no blueprint or recipe one can exactly follow, and it is challenging. This is, however, what the Veralox team is trained to do and we are well prepared and excited by the challenge and promise of developing a new treatment that can drastically improve and perhaps save the lives of people suffering from a terrible disease.

Were also currently looking to hire a Chief Medical Officer soon. Finding the best talent is always a challenge, but I know well be able to find the right person.

In three to five years, our goal is to have several products in the clinic and possibly an approved HIT/HITT drug on the market. Veralox has the potential to become an anchor life science company in the region. But for now, Id like Veralox to be known as the company that did what they said theyd do were community-minded and will continue to work hard to make a difference in the lives of patients with debilitating diseases.

Steve has over 20 years experience in copywriting, developing brand messaging and creating marketing strategies across a wide range of industries, including the biopharmaceutical, senior living, commercial real estate, IT and renewable energy sectors, among others. He is currently the Principal/Owner of StoryCore, a Frederick, Maryland-based content creation and execution consultancy focused on telling the unique stories of Maryland organizations.


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The genetic architecture of the human cerebral cortex – Science Magazine

Posted: March 24, 2020 at 6:02 am

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

Posted: at 6:02 am

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.

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

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

Posted: at 6:02 am

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

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

Posted: at 6:02 am

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

Posted: at 6:02 am

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

Posted: January 18, 2020 at 10:17 am

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

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

Posted: at 10:17 am

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


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

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.

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