Using Genetics to Increase Specificity of Outcome Prediction in Psychiatric Disorders: Prospects for Progression | American Journal of Am J Psychiatry
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Using Genetics to Increase Specificity of Outcome Prediction in Psychiatric Disorders: Prospects for Progression | American Journal of - Am J...
The Parkinsons Foundation has expanded its PD GENErationnational study to include at-home genetic testing and virtual counseling inSpanish as well as English.
Opened in 2019 through the organization and partly supported by Biogen, PD GENEration offers Parkinsons (PD) patients free genetic testing plus genetic counseling to help them understand test results.
To remove barriers to Parkinsons research participation in the underserved Hispanic population, the Parkinsons Foundation decided to offer patientsat-home testing and counseling in Spanish. The study seeks to use the testing to boost clinical trial enrollment. In turn, researchers hope to use test results to develop treatment candidates and personalized therapeutic approaches.
We want the Hispanic community to know that they can be empowered by taking part in the PD GENEration program and that their voices and experiences are incredibly valuable in helping us move the field forward for the entire PD community, said Ignacio Mata, PhD, chair of the Parkinsons Foundation Hispanic Parkinsons Advisory Council, in a press release.
Offering the study in Spanish is critical to ensuring that the Hispanic community can easily participate and therefore will be well represented in this important study, Mata said.
After a virtual screening appointment to confirm eligibility, prospective PD GENEration participants schedule a two-hour virtual testing appointment. During that appointment, and with guidance from a healthcare professional, patients complete the genetic assessment.Test results are discussed with a counselor during a follow-up phone appointment.
To determine participation eligibility, go here for a short online questionnaire. For questions about enrollment, write to [emailprotected].
The Parkinsons Foundation has adapted to help the PD community gain access to this valuable and empowering information from the safety and comfort of their homes during the ongoing COVID-19 pandemic and beyond, said James Beck, PhD, the organizations chief scientific officer. We are looking forward to continuing this research study so that we may one day soon be able to provide precision treatments for the 1 million Americans living with Parkinsons disease.
Genetic testing and counseling will remain available at six in-person testing sites nationwide. The Foundation expects to add 10 testing sites next year.
In addition to identifying potential clinical trial participants, such testing can help scientists uncover underlying Parkinsons mechanisms, which could lead to improved treatments and patient care. Understanding genetic differences across people with Parkinsons can help reveal the diseases variable effect.
As it stands, genetic tests for Parkinsons often are unaffordable and not covered by insurance. And, many dont offer genetic counseling, which can help interpret test results. Consequently, most Parkinsons patients dont know whether they carry genetic changes in Parkinsons-related genes. The PD GENEration study seeks to address this need.
Early study results show that comprehensive genetic testing and counseling, and the identification of rare genetic mutations linked to the disease, is practicable for the Parkinsons community at large.
Roughly 15% of Parkinsons cases may be associated with genetic mutation.Since its launch, the PD GENEration study has tested at least 291 people, 52 of whom tested positive for a Parkinsons-related mutation.
The study tests for the following genes with known Parkinsons associations: GBA(glucocerebrosidase beta),LRRK2(dardarin),PRKN(Parkin),PINK1(PTEN induced putative kinase 1),PARK7(DJ-1),VPS-35,andSNCA(alpha-synuclein).
To date, some study participants tested have shown extremely rare mutations, with some individuals even carrying multiple Parkinsons-associated mutations. This information should contribute to a better understanding of the neurodegenerative disorder.
Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours dElegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled Belle of the Concours.
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Ana holds a PhD in Immunology from the University of Lisbon and worked as a postdoctoral researcher at Instituto de Medicina Molecular (iMM) in Lisbon, Portugal. She graduated with a BSc in Genetics from the University of Newcastle and received a Masters in Biomolecular Archaeology from the University of Manchester, England. After leaving the lab to pursue a career in Science Communication, she served as the Director of Science Communication at iMM.
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PD GENEration Study Now Includes At-home Genetic Testing and... - Parkinson's News Today
TEMPLE CITY, Calif., Sept. 30, 2020 (GLOBE NEWSWIRE) -- Fulgent Genetics, Inc. (NASDAQ: FLGT) (Fulgent Genetics or the company), a technology company providing comprehensive testing solutions through its scalable technology platform, today announced that the Ohio Department of Rehabilitation and Correction (ODRC) has selected Fulgent Genetics for their COVID-19 testing needs.
The Ohio Department of Rehabilitation and Correction will leverage Fulgents RT-PCR testing capabilities and Enterprise Platform to test its approximately 14,000 employees on a routine basis. The partnership encompasses on-site testing at locations across the state and will leverage Fulgents Enterprise Platform. Fulgents platform will enable theODRC to streamline the on-site testing process by either giving each employee a QR code or using their employer ID which is linked to the individuals sample via a barcode scan, and then self-collected under supervision and returned to Fulgents lab for processing and reporting. Employees will receive their results within 24 hours of sample receipt.
We look forward to aiding the Ohio Department of Rehabilitation and Correction in their effort to protect their employees and curb the spread of COVID-19 across their facilities, commented Brandon Perthuis, Chief Commercial Officer of Fulgent Genetics. Our Enterprise Platform offering enables the ODRC to test their employees in an extremely efficient manner, a process that takes approximately one minute per person. This offering provides a flexible and comprehensive testing solution for the ODRC that utilizes our gold-standard RT-PCR testing capabilities. Fulgent continues to raise the bar in offering COVID-19 testing solutions that meet the needs of large organizations and municipalities in a highly efficient and accurate manner.
About Fulgent Genetics
Fulgent Genetics proprietary technology platform has created a broad, flexible test menu and the ability to continually expand and improve its proprietary genetic reference library while maintaining accessible pricing, high accuracy and competitive turnaround times. Combining next generation sequencing (NGS) with its technology platform, the company performs full-gene sequencing with deletion/duplication analysis in an array of panels that can be tailored to meet specific customer needs. In 2019, the company launched its first patient-initiated product, Picture Genetics, a new line of at-home screening tests that combines the companys advanced NGS solutions with actionable results and genetic counseling options for individuals. Since March 2020, the company has commercially launched several tests for the detection of SARS-CoV-2, the virus that causes the novel coronavirus (COVID-19), including NGS and reverse transcription polymerase chain reaction (RT-PCR) - based tests. The company has received Emergency Use Authorization (EUA) from the U.S. Food and Drug Administration (FDA) for the RT-PCR-based tests for the detection of SARS-CoV-2 using upper respiratory specimens (nasal, nasopharyngeal, and oropharyngeal swabs) and for the at-home testing service through Picture Genetics. A cornerstone of the companys business is its ability to provide expansive options and flexibility for all clients unique testing needs through a comprehensive technology offering including cloud computing, pipeline services, record management, web portal services, clinical workflow, sequencing as a service and automated lab services.
About Picture Genetics
Through its Picture Genetics platform launched in 2019, Fulgent Genetics offers consumers direct access to its advanced genetic testing and analytics capabilities from the ease and comfort of home, at an affordable price point. The Picture Genetics platform provides a holistic approach to at-home genetic screening by including oversight from independent physicians as well as genetic counseling options to complement Fulgent Genetics comprehensive genetic testing analysis. The Picture Genetics platform currently offers multiple tests, providing medically actionable, clinical-level results with professional medical follow-up in one easy process. Visit http://www.picturegenetics.com for more information.
Forward-Looking Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Examples of forward-looking statements in this press release include statements about, among other things: managements beliefs, judgments and estimates regarding Fulgents testing solutions, including its technology platforms and RT-PCR testing solution; the companys identification and evaluation of opportunities and its ability to capitalize on opportunities to grow its business; and its expected lab capacity and results turnaround times.
Forward-looking statements are statements other than historical facts and relate to future events or circumstances or the companys future performance, and they are based on managements current assumptions, expectations and beliefs concerning future developments and their potential effect on the companys business. These forward-looking statements are subject to a number of risks and uncertainties, which may cause the forward-looking events and circumstances described in this press release to not occur, and actual results to differ materially and adversely from those described in or implied by the forward-looking statements. These risks and uncertainties include, among others: the ongoing impacts of the COVID-19 pandemic, including the preventive public health measures that may continue to impact demand for its tests and the pandemics effects on the global supply chain; the market potential for, and the rate and degree of market adoption of, the companys tests, including its newly-developed tests for COVID-19 and genetic testing generally; the companys ability to capture a sizable share of the developing market for genetic and COVID-19 testing and to compete successfully in these markets, including its ability to continue to develop new tests that are attractive to its various customer markets, its ability to maintain turnaround times and otherwise keep pace with rapidly changing technology; the companys ability to maintain the low internal costs of its business model, particularly as the company makes investments across its business; the companys ability to maintain an acceptable margin on sales of its tests, particularly in light of increasing competitive pressures and other factors that may continue to reduce the companys sale prices for and margins on its tests; risks related to volatility in the companys results, which can fluctuate significantly from period to period; risks associated with the composition of the companys customer base, which can fluctuate from period to period and can be comprised of a small number of customers that account for a significant portion of the companys revenue; the companys ability to grow and diversify its customer base and increase demand from existing and new customers; the companys investments in its infrastructure, including its sales organization and operational capabilities, and the extent to which these investments impact the companys business and performance and enable it to manage any growth it may experience in future periods; the companys level of success in obtaining coverage and adequate reimbursement and collectability levels from third-party payors for its tests; the companys level of success in establishing and obtaining the intended benefits from partnerships, joint ventures or other relationships; the companys compliance with the various evolving and complex laws and regulations applicable to its business and its industry; risks associated with the companys international operations; the companys ability to protect its proprietary technology platform; and general industry, economic, political and market conditions. As a result of these risks and uncertainties, forward-looking statements should not be relied on or viewed as predictions of future events.
The forward-looking statements made in this press release speak only as of the date of this press release, and the company assumes no obligation to update publicly any such forward-looking statements to reflect actual results or to changes in expectations, except as otherwise required by law.
The companys reports filed with the U.S. Securities and Exchange Commission (SEC), including its annual report on Form 10-K for the year ended December 31, 2019 filed with the SEC on March 13, 2020 and the other reports it files from time to time, including subsequently filed quarterly and current reports, are made available on the companys website upon their filing with the SEC. These reports contain more information about the company, its business and the risks affecting its business.
Investor Relations Contact:The Blueshirt GroupNicole Borsje, 415-217-2633; nborsje@blueshirtgroup.com
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As of this writing, there are give or take 7,815,637,687 human beings living on planet Earth. This staggeringly large number is made even more unfathomable by the fact that each one of us is unique in the particular combination of features that make us, well, us.
How we become the individuals we become is the fascinating question that Johns Hopkins Neuroscience professor David J. Linden explores in his latest book Unique: The New Science of Human Individuality. It is a big question, and Linden tackles not only the roles that genetics and experience play in shaping who we are, but also the varieties of human experiences found in traits ranging from food and sexual preference to gender and race and more.
Though covering this vast topic in 256 pages may seem daunting, Linden is an experienced communicator of complex science having previously authored three highly successful books on neuroscience for a general audience (Touch,The Accidental Mind, andThe Compass of Pleasure) and edited a book of essays written by fellow neuroscientists (Think Tank). (He also teaches a course at Johns Hopkins University on writing about the brain that I took as a graduate student.)
Unique emphatically pushes beyond outdated notions of individuality as being the simple byproduct of nature vs nurture and instead offers a vision that is both more complex and awe-inspiring.
Were actually a collection of thirty-seven trillion cells, each with a somewhat different genome. Thats pretty hard to imagine, he writes. Its not just that it takes a village to raise a child. Each child is a villageor rather, a huge metropolisof related but genetically unique individual cells. But it gets even more complicated.
By deftly weaving in historical vignettes and anecdotes from his own life with clear explanations of scientific findings and research methodologies, Linden writes about our current understanding of individuality in a way thats both personal and universal perfectly reflecting our experience of being an individual.
BFB: Why did you decide to write about human individuality?
David J. Linden: I got the idea to write about human individuality when I found myself single five years ago and started online dating. So, there I am on OkCupid. And, you know, reading all these profiles of these various women and theyre basically lists of traits. When people are trying to describe themselves, theyre listing traits. Theyre saying things like I tend to wake up early in the morning. I like white chocolate, I like hoppy beer, and I have perfect pitch.
So if youre a nerd like me, you begin to wonder well, whats the deal? How do these traits come to pass? And can we really think about it in terms of the classic formulation of nature versus nurture?
BFB: I love your extended rant [in the book] about the expression nature versus nurture. Whats so wrong about that phrase? And why do you think its really stuck in the popular imagination?
DJL: I think its stuck because its cute to say. It rhymes and has a good beat you can dance to it. Its like if the gloves dont fit, you must acquit. Its one of the things that sticks in your mind.
A minor thing is you say nature to mean heredity. Well, alright, Ill go along with that, whatever. And then the problem is all the things that are not heredity are then nurture, but nurture means how your parents and your community raised you. And of course, those are important factors, but theyre far from the whole deal. Not only are there very many other social experiences, other than in the family or community, but theres all these experiences that arent social at all, like whether your mother was fighting off influenza while she was pregnant with you, what food she ate, and the day length and the latitude where you grew up in the first two years of your life.
And theres versus. Versus is stupid because it makes you think you got heredity and you got experience, [and] you can either have more of one or the other. And in truth, they interact enormously. Like, if youre fortunate enough to be born fast and coordinated, then youll probably like sports and then youll probably practice sports and play sports a lot and get better at sports.
And the final thing is that theres a huge bit missing to all this. When genetically identical twins are born, they basically got the same DNA. And they have more or less the same experience in the womb up to that point side by side. And theyre born and theyre not really identical, either in appearance, or the volume of their organs or temperament? One can be mellow and the other fuss. It happens all the time.
BFB: What was the most surprising thing youve learned about human individuality while researching the book? Because you have so many tidbits in there.
DJL: I think the thing that was the most surprising and counterintuitive to me has to do with the effects of birth order in the family. I had always sort of bought into this idea that firstborn children, because of their role in the family, tend to be leaders, innovators, risk-takers, while your middle borns are more negotiators, andyour later borns are kind of clever, avoid-the-police types used to avoiding parents who at that point are really distracted. And remarkably, this turns out to be true only within the dynamic of the family. Its absolutely true. Firstborns really do dominate their younger siblings, and the middle kids really do negotiate. And the youngest kids really, really do try to be clever and sneak around. But when they go out into the world, that all falls apart. And in a way, it makes total sense. Because you may be the firstborn, you may be the big fish in the pond in your family, but on the playground, youre almost certainly not. Kids are very good at matching the situation.
So that was a big shock to me that birth order really doesnt predict personality other than within the dynamics of the family.
BFB: What would you say is the takeaway for the readers of this book?
DJL: I would say one of them is to revise the nature versus nurture formulation. But another one, I think, has to do with personal agency.
A lot of people say, Well, if Im admitting that theres heritable contributions to behavioral traits, that turns me into a robot. Im a slave of my genes.
And thats not true.
That said, way more of what we do in an average day is habitual than we realize. Adrian Haith, at Hopkins famously said, were a big pile of habit with a thin veneer of decision-making on top of it, and I think hes right.
But whats also interesting is that it doesnt feel that way, right? It feels like we are driving the bus, each of us are in charge: I can go here, I go there, I can change my mind, I can do this, I can do that. What is he mean Im a big pile of habit? So to me, an interesting question that comes out of this is then, why is it useful?
Why should people feel like they have more of a sense of agency than they really do? I dont really know the answer. But my speculation is that you need that to not be stymied when you need to make rapid decisions. You know, if the tiger is chasing you dont have to go, Oh, can I really trust my senses here? What should I do? Am I really in charge? I think you have to have enough of a sense of personal agency to act rapidly.
***
The virtual launch of Unique features Baltimore Fishbowl columnist Marion Winik in conversation with David Linden, sponsored by the Ivy Bookshop, Sunday, October 11, 6:30 pm. To register to attend the event, go to the Ivys event page.
Richard Sima is a science writer based in Baltimore, Md. He covers the environmental and life sciences and has written for Scientific American, Discover, New Scientist, and elsewhere. He has a Ph.D. in neuroscience from Johns Hopkins University and an undergraduate degree in neurobiology from Harvard College.
Good news for garlic lovers
Booster of flavor, repeller of vampires, stinker of breath. Garlic has enhanced our cooking for thousands of years by adding different flavorful sulfur-containing compounds to our dishes. The punchy allium has also been a folk remedy for infections, including plagues and other medical complaints, for almost as long. But even with all we know about it, the humble garlic clove is still giving up some sulfurous secrets.
At Virginia Tech, graduate student Hannah Valentino has picked apart a previously unknown pathway to one of the key flavor compounds in garlic, allicin (J. Biol. Chem. 2020, DOI: 10.1074/jbc.RA120.014484). Allicin is the flavorful compound with a characteristic smell thats released when you cut or crush raw garlic. Somewhat unstable, allicin will break down over time, or with cooking, to create the other smelly compounds that many people find alluring in food but less so on the breath.
Trying to understand the biosynthesis of this stinky compound, Valentino found an enzyme that oxygenates allyl mercaptan to form allyl sulfenic acid. Two molecules of the allyl sulfenic acid then condense to form allicin.
In a press release about the paper, Valentinos mentor Pablo Sobrado suggests that understanding how the enzyme creates garlicky flavor compounds could help researchers develop new garlic breeds with different allicin levels. That could help farmers grow garlic they know will have a receptive audience: consumers in the future could buy garlic bulbs with levels of the flavorful compound that suit their tastes.
For now, though, if you are more worried about stinky breath than keeping vampires away, Harold McGees On Food and Cooking: The Science and Lore of the Kitchen may help. Residual thiols in the mouth, McGee writes, can be transformed into odorless molecules by the browning enzymes in many raw fruits and vegetables. His adviceeating a salad or apple should remove garlics offensive odors from your exhalations.
While we know a lot about the smell of garlic, researchers still havent pinned down the source of the novel coronaviruss scent. But airports are now using scent-trained canines for dog-based diagnostics.
In July, Newscripts reported that researchers were having success training doggy detectives to sniff out people infected with COVID-19. But those tests were in the lab and based mostly on smelling urine or saliva from infected people. Not ideal for day-to-day testing in a public setting.
The article prompted a representative from the United Arab Emirates Ministry of Interior to contact Newscripts via email. Since August, the note says, scent-detecting dogs have been sniffing out COVID-19 at airports, including in the busy hub of Dubai. Instead of taking saliva samples, which might be infectious, medical assistants at the UAE airports take sweat samples for dogs to sniff, which the representative says are completely safe for both the dogs and the medical assistants who are administering the test. In late September, COVID-19-detecting doggos started working at Helsinkis airport, where they are also sniffing swipes from passengers skin rather than the passengers themselves.
It still isnt clear exactly what combination of metabolites and scent molecules gives people infected with SARS-CoV-2 their distinctive scent. But Newscripts hopes that researchers can find that elusive eau de COVID-19. Until that is figured out, were glad these pooch sleuths are helping out and we hope these good puppers get lots of treats at the end of a tough day at the office. That always works for the Newscripts gang.
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Biochemistry to boost garlic breath and canine COVID-19 detection - Chemical & Engineering News
Professor Li-Jun Ma, biochemistry and molecular biology, has received support from the U.S. Department of Energys Joint Genome Institute (JGI) Community Science Program (CSP) to conduct in-depth research on a group of soil fungi, Fusaria, that are economically important because they devastate crops not only food but biofuel feedstocks. This is a collaborative project between principal investigator Ma and co-principal investigator Robert Proctor, a research microbiologist at the USDA Agricultural Research Services National Center for Agricultural Utilization.
Ma says that two of the top 10 plant pathogens are in the Fusariumfamily, based on a ranking by many molecular plant pathologists. For these new investigations, she will collaborate with Igor Grigoriev and his team at the Joint Genome Institute and Lawrence Berkeley National Laboratory. Other collaborators include evolutionary biologist David Geiser,director of the Fusarium Research Center at Penn State University; Kerry ODonnell, an expert on taxonomy and biological diversity of Fusarium; and Daren Brown, who has more than 20 years of experience in Fusarium research.
She says of the honor and opportunity, This is an exciting project. Im honored by this award and I always appreciate the consistent and reliable support from JGI to the research community.
The JGI CSP program provides the scientific community with access to high-throughput, high-quality sequencing, DNA synthesis, metabolomics and analysis capabilities that they might not otherwise have access to. For this project, JGI will allocate technical infrastructure support, such as characterizing 124 fungal samples via next-generation, long-read DNA and RNA sequencing techniques, according to the institute.
DOE also points out that because of their associations with plants, Fusariumspecies (fusaria) can profoundly impact bioenergy production and global carbon cycling. The great genetic diversity of the genus is also reflected in their genomes and there is a great interest in understanding the dynamics of Fusariumgenomes and their impacts on the host-plant interactions.
This funded project has two major components. One is to produce 50 high-quality genome assemblies that span the diversity in the genus. Im happy that the scope of the project covers the whole genus. Further, the scientists will also explore the functional impact of genome dynamics on Fusarium-plant interactions by investigating 96 transcription factors identified in Fusarium oxysporum using DNA affinity purified sequencing (DAP-seq) and single cell RNAseq of three carefully selected samples. I am excited by the opportunity to address some knowledge gaps using functional data to probe host-fungal interactions, Ma says.
This project is based on a system developed at the Ma lab enabling the dissection of interaction between Fusarium and plants in both harmful and beneficent ways. Ma explains that another facet of this work will involve isolating individual plant cells and sequencing each cell separately, which is a cutting-edge and highly informative technique not easily used in non-human biology studies. Through network analysis, researchers will be able to capture the action and characterize patterns of temporal and spatial fungal-plant interactions. One goal of this research is to seek ways to intervene to prevent the plants death, specifically to prevent the loss of plant-based biofuel feedstocks.
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Li-Jun Ma Receives Joint Genome Institute Award for Fungi Research - UMass News and Media Relations
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The Anatomy of GenEluteTM-E Single Spin DNA and RNA Purification - The Scientist
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Anatomy and Physiology - Visual introduction to each human ...
That looks so very intense. The doctors are seen wearing masks around Grey Sloan, but it also looks like theyre decked out in more protective gear like fluid-resistant gowns, full face shields and head covers that are attached to powered, air-purifying respirators (PAPR). The latter is worn by hospital staff when specifically dealing with very sick patients who need extended care. The PAPR is used to filter out contaminated air so that the doctors remain safe while around patients with COVID-19. Talk about realistic.
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Greys Anatomy Reveals Somber First Look At Grey Sloan Facing The Pandemic - CinemaBlend
Marie Casey recently dealt with a case where one man with Covid-19 led to the infection of 56 people in total. As a public health specialist in the mid-west region and a member of the Public Health Early Career Network, she is concerned not only about rising Covid-19 infections, but the complexity of the cases she is coming across.
The case involving 56 people started when a man returned home to the mid-west with mild Covid-19...
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Anatomy of a second wave | Business Post - Business Post