Monthly Archives: July 2021

Cell Biology

The hunt to find causes and treatments for deadly childhood cancer – Newswise

Newswise Australian researchers and oncologists have been awarded $2.4 million to investigate the causes and treatments for neuroblastoma, the deadliest and most common solid tumour in children under the age of five.

Associate Professor Yeesim Khew-Goodall and Associate Professor Quenten Schwarz from the University of South Australia and SA Pathologys Centre for Cancer Biology will lead two separate projects to identify the molecular drivers of neuroblastoma and find more effective drugs to fight it, using patient data in the first instance, and genetically engineered stem cells in the second.

The projects, involving the Womens and Childrens Hospital and Royal Adelaide Hospital, are two of 106 groundbreaking medical research projects announced by the Federal Government under the Medical Research Future Fund, including $5.7 million for UniSA.

Neuroblastoma is a devastating disease which accounts for 15 per cent of all childhood cancer deaths, with fewer than 50 per cent of high-risk patients living five years after diagnosis.

It typically affects very young children, mostly under the age of five years, with the average age of diagnosis around one to two years, says Assoc Prof Yeesim Khew-Goodall, a world expert in cancer and microRNA biology.

For high-risk neuroblastoma, relapse is not uncommon, and these children often need to undergo multiple rounds of therapy. Due to the young age of the children and the high toxicity of current treatments, which include chemotherapy and radiation therapy, those who survive can end up with debilitating side effects that stay with them for life.

Tumours form (typically in the abdominal region) when immature nerve cells called neuroblasts continue to divide and grow, developing into cancer cells instead of becoming functioning, mature nerve cells. Defective genes are thought to be partly responsible, but scientists are yet to find the definitive causes.

Despite the highly toxic nature of current therapies, they are only effective in some children, so being able to predict which patients will or will not respond to current treatments will be our priority. Currently, there is a lack of reliable diagnostic criteria to predict disease course or treatment outcomes, and our aim is to fill that void.

Assoc Prof Khew-Goodalls $1.4 million project aims to improve risk classification using clinical information linked to molecular profiles of patient samples, and to identify therapeutic drugs that can be personalised for each child.

We have found the first evidence that key microRNAs (molecules that regulate gene expression) are deleted in one type of neuroblastoma, for example. Increasing the expression of these microRNAs could be significant in stopping the progression of the cancer.

At the moment, we have a sledgehammer approach towards treating neuroblastoma that can lead to developmental effects, including deafness, and problems with speech, mobility and cognition.

Assoc Prof Schwarz, a world expert in neuron development, will use genetically engineered stem cells to model the fetal origins of the disease and screen FDA-approved drugs.

Stem cell modelling will help us mimic the disease process so that we can understand how different genetic alterations drive different forms of this cancer. We hope that this new information will allow us to identify the best therapies for each tumour type, as well as more accurately predict the patient outcomes, Assoc Prof Schwarz says.

A major flaw of current treatment strategies is that they fail to treat the underlying cause of tumour growth. By modelling the disease, we will have better resources to identify new drugs for this disorder that are already approved for clinical use in other disease settings he says.

The researchers will work with the families of current patients over the next three years, combining laboratory studies with patient profiling.

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The hunt to find causes and treatments for deadly childhood cancer - Newswise

Cell Biology

People in the News: New Appointments at Genetron Health, BioSkryb, Geisinger, More – GenomeWeb

GenetronHealth: Chao Tang and Shan Fu

GenetronHealth has appointedChao Tang and Shan Fu to its board of directors. Tang replaces Weiwu He, who hadserved as chairman of the board beginning inMay 2015. Fu replaces Weidong Liu, who served as board director starting November 2019. According to Genetron, bothHe and Liu have resigned from its board due to personal reasons.He has since been appointed chairman emeritus in recognition of his prior contributions.

Tang is a chair professor of physics and systems biology at Peking University.His current research interest is at the interface between physics and biology. He is a fellow of the American Physical Society, an academician of the Chinese Academy of Sciences, the founding director of the Center for Quantitative Biology at Peking University, and the founding co-editor-in-chiefof the journal Quantitative Biology. He had his undergraduate training at the University of Science and Technology of China and received a Ph.D. in physics from the University of Chicago.

Fu has previously served as joint CEOof Vivo Capital, beginning inOctober 2013. Prior to Vivo, heworked as the chief representative of China at Blackstone Group, and in leadership positions at several other firms.Fu received both his B.A. andmaster's degree in history from Peking University.

Genetronalsosaid that it has named Sizhen Wang, the firm's co-founder, chairman, and CEO, as its new board chairman.In addition, effective June 30,Kevin Ying Hong will become the firm'ssenior adviser.

BioSkryb: Gary Harton

BioSkryb, a Durham, North Carolina-based developer of genomic amplification technologies, has appointed Gary Harton as CSO. Harton has more than 30 years of experience in single-cell diagnostic product development, and will apply BioSkrybs platform technology to develop new diagnostic technologies for cancer, neurological disorders, and assisted reproductive technologies, the company said. Prior to BioSkryb, he was the portfolio director for preimplantation genetic testing at PerkinElmer. He has also previously held a variety of product and portfolio-development positions at PerkinElmer, Igenomix US, Progyny, Illumina, BlueGnome, and Reprogenetics.

Geisinger: Christa Lese Martin

Geisinger Health System has named Christa Lese Martin as CSO. Martin, the founding director of the Autism & Developmental Medicine Institute at Geisinger, has served as interim CSO since December and previously was associate CSO at the health system. Shewill lead clinical research programs across the entire organization, directing a team of more than 500 researchers in precision health, genomics, data science, population health, implementation science, health services, bioethics, and clinical trials. Martin, cochair of theAmerican College of Medical Genetics and Genomics' Secondary Findings Working Group, was operations director of Emory Genetics Clinical Laboratory at Emory University before joining Geisinger in 2013.

For additional recent items on executive appointments and promotions in omics and molecular diagnostics, please see the People in the News page on our website.

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People in the News: New Appointments at Genetron Health, BioSkryb, Geisinger, More - GenomeWeb

Cell Biology

Uncovering Genetic Traces to Discover How Humans Adapted to Historical Coronavirus Outbreaks – SciTechDaily

Coronavirus graphic. Credit: Gerd Altmann

An international team of researchers co-led by the University of Adelaide and the University of Arizona has analyzed the genomes of more than 2,500 modern humans from 26 worldwide populations, to better understand how humans have adapted to historical coronavirus outbreaks.

In a paper published in Current Biology, the researchers used cutting-edge computational methods to uncover genetic traces of adaptation to coronaviruses, the family of viruses responsible for three major outbreaks in the last 20 years, including the ongoing pandemic.

Modern human genomes contain evolutionary information tracing back hundreds of thousands of years, however, its only in the past few decades geneticists have learned how to decode the extensive information captured within our genomes, said lead author Dr. Yassine Souilmi, with the University of Adelaides School of Biological Sciences.

This includes physiological and immunological adaptions that have enabled humans to survive new threats, including viruses.

Viruses are very simple creatures with the sole objective to make more copies of themselves. Their simple biological structure renders them incapable of reproducing by themselves so they must invade the cells of other organisms and hijack their molecular machinery to exist.

Lead author Dr. Yassine Souilmi Australian Centre for Ancient DNA, School of Biological Sciences, The University of Adelaide. Credit: The University of Adelaide

Viral invasions involve attaching and interacting with specific proteins produced by the host cell known as viral interacting proteins (VIPs).

In the study, researchers found signs of adaptation in 42 different human genes encoding VIPs.

We found VIP signals in five populations from East Asia and suggest the ancestors of modern East Asians were first exposed to coronaviruses over 20,000 years ago, said Dr. Souilmi.

We found the 42 VIPs are primarily active in the lungs the tissue most affected by coronaviruses and confirmed that they interact directly with the virus underlying the current pandemic.

Dr. Ray Tobler, Australian Centre for Ancient DNA, within the University of Adelaides School of Biological Sciences. Credit: The University of Adelaide

Other independent studies have shown that mutations in VIP genes may mediate coronavirus susceptibility and also the severity of COVID-19 symptoms. And several VIPs are either currently being used in drugs for COVID-19 treatments or are part of clinical trials for further drug development.

Our past interactions with viruses have left telltale genetic signals that we can leverage to identify genes influencing infection and disease in modern populations, and can inform drug repurposing efforts and the development of new treatments, said co-author Dr. Ray Tobler, from the University of Adelaides School of Biological Sciences.

By uncovering the genes previously impacted by historical viral outbreaks, our study points to the promise of evolutionary genetic analyses as a new tool in fighting the outbreaks of the future, said Dr. Souilmi.

The researchers also note that their results in no way supersede pre-existing public health policies and protections, such as mask-wearing, social distancing, and vaccinations.

Reference: An ancient viral epidemic involving host coronavirus interacting genes more than 20,000 years ago in East Asia by Yassine Souilmi, M. Elise Lauterbur, Ray Tobler, Christian D. Huber, Angad S. Johar, Shayli Varasteh Moradi, Wayne A. Johnston, Nevan J. Krogan, Kirill Alexandrov and David Enard, 24 June 2021, Current Biology.DOI: 10.1016/j.cub.2021.05.067

The team involved in this study also included researchers from Australian National University and Queensland University of Technology.

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Uncovering Genetic Traces to Discover How Humans Adapted to Historical Coronavirus Outbreaks - SciTechDaily

Cell Biology

How does a regulatory protein know where to bind to modulate insulin production? | Penn State University – Penn State News

UNIVERSITY PARK, Pa. Some proteins in the body ensure that genes are turned on and off at the correct times. For example, the transcription factor protein Pdx1 (pancreatic and duodenal homeobox 1) turns on the gene that codes for insulin, and the protein SPOP (speckle-type POZ protein) in turn binds to Pdx1 so that the body doesnt make too much insulin. But its unclear how SPOP binds to Pdx1. Understanding where SPOP binds may help researchers predict what predisposes individuals to developing diabetes and clarify how SPOP regulates other important proteins. In a recent study, a team of researchers from Penn State and St. Jude Childrens Research Hospital imaged the proteins and determined just how this important interaction occurs.

A paper describing the interaction was recently published in the Journal of Biological Chemistry. We talked to two of the authors of the paper, Scott Showalter, professor of chemistry and of biochemistry and molecular biology, and Emery Usher, graduate student in Biochemistry, Microbiology and Molecular Biology (BMMB) program, about this work.

Q: Why is Pdx1 important for the human body, and how does SPOP support its function?

Showalter: Pdx1 is a transcription factor, which is a protein that binds to the DNA in your genome and controls whether nearby genes will be turned on or off. In humans, Pdx1 is primarily found in the pancreas, where it turns on the gene that codes for the protein insulin when more of it is needed. When enough insulin is stored up for the future, SPOP binds to Pdx1 and causes it to be destroyed by the cellular protein recycling machinery, thus turning off insulin production.

Usher: Ultimately, Pdx1 and SPOP work together to maintain glucose homeostasis; that is, the careful balance of glucose levels in the cells and in your bloodstream. Notably, SPOP performs a similar regulatory role for dozens of other proteins in lots of different types of cells, all of which are critical to appropriate cell function.

Q:What was your motivation for this study?

Showalter: Although we knew that Pdx1 and SPOP work together to regulate the insulin-coding gene, prior to this study the details of this interaction was unclear. It was known from other work that SPOP turns proteins off by attaching a molecular signal to them that targets these proteins for destruction, but Pdx1 does not look like any other proteins that SPOP regulates. Almost all proteins known to be regulated by SPOP possess multiple recognition sequences, or sequences of amino acids that act like a password. However, Pdx1 does not contain any of the sequences that SPOP was known to bind to. My laboratory has invested a great deal of effort over the past decade to develop techniques that can be used to characterize interactions like the ones that we knew must exist between Pdx1 and SPOP. In this study, we set out to determine where SPOP binds to Pdx1 and how it knows that it has found the correct site(s).

Usher: SPOP can actually recognize more than one of these amino acid password sequences and can thus target many partners, so it is difficult to produce a comprehensive list of the amino acid sequences that SPOP looks for. Investigating the interaction between Pdx1 and SPOP could also provide insight into other proteins SPOP might bind to.

Penn State researchers used a variety of techniques regarding cell biology, structural biology, and protein biophysics to determine how the proteins SPOP and Pdx1 work together to ensure the gene that codes for insulin is turned on and off at the correct time.

IMAGE: Showalter Lab, Penn State

Q:What were the main results of this study?

Showalter: We were very happy to find that there is not just one SPOP binding site on Pdx1, but two. It is known that SPOP generally binds multiple sites in the proteins it controls, so this result was very satisfying because it brings Pdx1 regulation into alignment with the communitys more general understanding of how SPOP functions. After we found the second binding site, we used X-ray crystallography to image the complex that forms when SPOP is bound to Pdx1 at these newly discovered binding sites. This structure revealed that even though an unusual sequence of amino acids in Pdx1 was involved in SPOP binding, the geometric and chemical details actually were very similar to previously determined structures. Our results suggest that the previous definition of a SPOP binding site was too narrow.

Usher: We now have a better understanding of the chemical rules that define whether a sequence is a good candidate to bind or not. Our structure also suggests a plausible mechanism to disrupt Pdx1 binding by SPOP when this interaction is unwanted for example, when Pdx1 is needed to produce more insulin.

Q:Why are these findings important?

Showalter: It is important to understand the molecular details of biological processes like glucose-dependent insulin production and how they are regulated because these are the deciding factors between normal health and disease. Understanding the sequences SPOP binds to helps us to predict why certain genetic variations may predispose individuals and families that carry them to developing diabetes. Similarly, by clarifying the rules that SPOP uses to identify the proteins it should bind to and regulate, we can better predict other proteins it regulates. We may also be able to predict how naturally occurring variations in their amino acid sequences may disrupt normal SPOP binding, leading to poor health outcomes.

Usher: SPOP is also known for its role in certain cancers, including prostate and endometrial cancer. While beyond the scope of our current work, better defining how SPOP selects binding partners will likely impact future research in this area as well.

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How does a regulatory protein know where to bind to modulate insulin production? | Penn State University - Penn State News

Cell Biology

Frequent testing improves the detection of SARS-CoV-2 – News-Medical.Net

Detecting SARS-CoV-2, the virus that causes COVID-19, improves with regularity of testing, whether using rapid antigen tests or PCR molecular tests. The PCR test is considered the gold standard for diagnosing COVID-19 infection, but cost and infrastructure issues, as well as wait times for PCR results, have limited its use more broadly as a screening tool for asymptomatic people because rapid results are needed to interrupt the chain of transmission.

In a highly anticipated study that compares rapid antigen and laboratory PCR approaches for COVID-19 serial screening, researchers affiliated with the National Institutes of Health's Rapid Acceleration of Diagnostics (RADx) initiative reported results from 43 people infected with the virus. They found that both testing methods were equally effective in detecting SARS-CoV-2 infection when tests were given on a regular cadence every three days.

While individual PCR tests are more sensitive than antigen tests, particularly early in infection, the results showed that both testing approaches can give 98% sensitivity when taken regularly as part of a screening program. Because antigen tests at the point of care or at home can deliver immediate results and are less costly than laboratory tests, these results suggest that they could be a highly effective screening tool to prevent disease outbreaks.

Rapid antigen testing at home, two to three times per week, is a powerful and convenient way for individuals to screen for COVID-19 infection. With schools and businesses reopening, an individual's risk of infection can change from day to day. Serial antigen testing can help people manage this risk and quickly take action to prevent spread of the virus."

Bruce Tromberg, PhD, Director of the National Institute of Biomedical Imaging and Bioengineering, National Institues of Health

Dr. Tromberg leads the RADx Tech program, which supported the study. For the past year, the RADx initiative has been a catalyst for dozens of diagnostic device technologies-;including both antigen and PCR tests-;accelerating the development and commercialization of COVID-19 diagnostic tests.

Authors of the study in the June 30, 2021, Journal of Infectious Diseases, are researchers at the University of Illinois at Urbana-Champaign (UIUC); University of Massachusetts Medical School, Worcester; Johns Hopkins School of Medicine, Baltimore; and NIBIB.

Employees and students at UIUC participate in SHIELD Illinois, a COVID-19 screening program implemented this past year on campus. SHIELD Illinois participants who tested positive or lived in close contact with a person who received a positive result were invited to participate in this research study. The goal was to investigate the sensitivity of specific types of diagnostic tests during infection by having participants take PCR and antigen tests daily during the course of their infection. Daily samples were also tested for the presence of infectious virus as a measure of how easily individuals may transmit virus to others at different stages of infection.

The team began their participant recruitment in early December 2020, which continued into spring 2021. To capture daily test results across the entire course of infection, participants were enrolled within days after their exposure to the virus, having received negative test results in the seven days prior to enrollment. None of the participants in the study experienced symptoms that required hospitalization.

Participants supplied a saliva sample and two forms of nasal swabs for 14 consecutive days. A courier retrieved the samples daily. To obtain a rough measure of the period during which subjects could spread infection to others, the research team sent one of the nasal samples to a laboratory at Johns Hopkins University to observe the growth of live virus in culture. Viral culture is labor- and cost-intensive and is not practical for testing large numbers of people but provides a high degree of certainty that live virus can be derived from the sample. By culturing samples in this study, the researchers could estimate the onset and duration of COVID-19 infectiousness.

"Antigen tests and PCR tests detect the presence of different molecules found in virus particles," explained Christopher B. Brooke, senior author and assistant professor of molecular and cell biology at UIUC. "Most tests detect genetic material associated with the virus, but that doesn't mean there is live virus there. The only way to tell with certainty if live, infectious virus is present is to perform an infectivity assay, or culture," such as was performed at the Johns Hopkins laboratory.

The researchers then compared three COVID-19 viral testing modalities-;PCR testing of saliva, PCR testing of nasal samples and rapid antigen testing of nasal samples. The saliva sample results were performed with an authorized saliva-based PCR test developed at UIUC, called covidSHIELD, that can generate a result after about 12 hours.

A separate PCR test performed with an Abbott Alinity device was used to obtain results from a nasal swab. Rapid antigen testing was performed using a Quidel Sofia SARS Antigen Fluorescent Immunoassay device that is authorized for use at the point of care and can generate a result after 15 minutes.

The researchers calculated the sensitivity of each test modality to detect SARS-CoV-2 and measured the presence of live virus over a two-week period following initial infection. They found that PCR molecular tests-;both from saliva and nasal samples-;are more sensitive than rapid antigen tests at detecting the SARS-CoV-2 virus prior to the infectious period. If the result from PCR tests could be quickly returned, the person receiving the result could undertake measures much sooner to prevent transmitting the virus to others. Unfortunately, results from PCR are rarely returned the day of testing.

The authors calculated test sensitivity based on test frequency, finding that a cadence of tests every three days achieved better than 98% sensitivity to detect infection, whether using rapid antigen tests or PCR tests. When they assessed frequency of testing once per week, nasal and saliva PCR testing sensitivity remained high, at around 98%, but antigen test sensitivity declined to 80%. These results show, for the first time, that testing at least twice per week with rapid antigen tests has comparable performance with PCR testing and maximizes the likelihood of detecting people infected with SARS-CoV-2.

The sensitivity of PCR molecular tests and rapid antigen tests is highest when viral cultures are positive for SARS-CoV-2, as might be expected. Even beyond this infectivity period, though, PCR tests continue to detect particles of virus, when the virus is most likely no longer transmissible.

"Silent transmission of the SARS-CoV-2 virus from individuals with no symptoms contributes significantly to the spread of the virus," said co-author William Heetderks, M.D., Ph.D., a RADx Tech program advisor at NIBIB. "Faster, cheaper and broader testing with antigen tests can be a big help in the kind of large-scale screening scenarios that can find these silent transmitters."

Source:

Journal reference:

Smith, R. L., et al. (2021) Longitudinal assessment of diagnostic test performance over the course of acute SARS-CoV-2 infection. The Journal of Infectious Diseases. doi.org/10.1093/infdis/jiab337.

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Frequent testing improves the detection of SARS-CoV-2 - News-Medical.Net

Genetics

New CRISPR/Cas9 Plant Genetics Technology to Improve Agricultural Yield and Resist the Effects of Climate Change – SciTechDaily

Arabidopsis plants were used to develop the first CRISPR-Cas9-based gene drive in plants. Credit: Zhao Lab, UC San Diego

New technology designed to breed more robust crops to improve agricultural yield and resist the effects of climate change.

With a goal of breeding resilient crops that are better able to withstand drought and disease, University of California San Diego scientists have developed the first CRISPR-Cas9-based gene drive in plants.

While gene drive technology has been developed in insects to help stop the spread of vector-borne diseases such as malaria, researchers in Professor Yunde Zhaos lab, along with colleagues at the Salk Institute for Biological Studies, demonstrated the successful design of a CRISPR-Cas9-based gene drive that cuts and copies genetic elements inArabidopsisplants.

Breaking from the traditional inheritance rules that dictate that offspring acquire genetic materials equally from each parent (Mendelian genetics), the new research uses CRISPR-Cas9 editing to transmit specific, targeted traits from a single parent in subsequent generations. Such genetic engineering could be used in agriculture to help plants defend against diseases to grow more productive crops. The technology also could help fortify plants against the impacts of climate change such as increased drought conditions in a warming world.

A schematic representation of a new plant gene drive using CRISPR/Cas9 technology. Credit: Zhao Lab, UC San Diego

The research, led by postdoctoral scholar Tao Zhang and graduate student Michael Mudgett in Zhaos lab, ispublished in the journalNature Communications.

This work defies the genetic constraints of sexual reproduction that an offspring inherits 50% of their genetic materials from each parent, said Zhao, a member of the Division of Biological Sciences Section of Cell and Developmental Biology. This work enables inheritance of both copies of the desired genes from only a single parent.The findings can greatly reduce the generations needed for plant breeding.

The study is the latest development by researchers in theTata Institute for Genetics and Society(TIGS) at UC San Diego, which was built upon the foundation of anew technology called active genetics with potential to influence population inheritance in a variety of applications.

Developing superior crops through traditional genetic inheritance can be expensive and time-consuming as genes are passed through multiple generations. Using the new active genetics technology based on CRISPR-Cas9, such genetic bias can be achieved much more quickly, the researchers say.

I am delighted that this gene drive success, now achieved by scientists affiliated with TIGS in plants, extends the generality of this work previously demonstrated at UC San Diego, to be applicable in insects and mammals, said TIGS Global Director Suresh Subramani. This advance will revolutionize plant and crop breeding and help address the global food security problem.

Reference: Selective inheritance of target genes from only one parent of sexually reproduced F1 progeny in Arabidopsis by Tao Zhang, Michael Mudgett, Ratnala Rambabu, Bradley Abramson, Xinhua Dai, Todd P. Michael and Yunde Zhao, 22 June 2021, Nature Communications.DOI: 10.1038/s41467-021-24195-5

Coauthors of the paper include: Tao Zhang, Michael Mudgett, Ratnala Rambabu, Bradley Abramson, Xinhua Dai, Todd Michael and Yunde Zhao.

The research was funded by TIGS-UC San Diego and a training grant from the National Institutes of Health.

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New CRISPR/Cas9 Plant Genetics Technology to Improve Agricultural Yield and Resist the Effects of Climate Change - SciTechDaily

Genetics

In Brief This Week: Foundation Medicine, Myriad Genetics, Genetron Health, and More – GenomeWeb

NEW YORK Foundation Medicine and Flatiron Health announced this week that Foundations comprehensive genomic profiling tests will be available to order through Flatiron's OncoEMR platform. The integration will allow clinicians to electronically order, track, and receive Foundations test through OncoEMR, the companies said. Both Flatiron and Foundation are planning further integrations with the others comprehensive genomic profiling tests and electronic medical record systems, respectively.

Myriad Genetics this week said it has completed the sale of its Myriad RBM unit which specializes in providing laboratory research services to pharmaceutical companies to IQVIA subsidiary Q2 Solutions. When Myriad announced its intent to sell this business unit in May, it did not disclose the deal's financial details.

GenetronHealth said this week that it has entered a new partnership with the World Economic Forum under its Health and Healthcare Platform, where it is contributing its research insights, technologies, and industry experience. The platform's overall goal is to ensure worldwide equal access to the highest standards of health and healthcare.Genetroniscurrentlyparticipating in a sub-project,dubbedMoving Genomics to the Clinic, which seeks to promote the use of genetic testing in routine clinical practices by proving its utility and efficacy.

AccessHope, a City of Hope subsidiary, said this week that it has partnered with the Dana-Farber Cancer Institute to bring the latest cancer care expertise to patients and oncologists in the community. By partnering withAccessHope, Dana-Farber's experts will support oncologistswiththe latest advances in oncology,includingpersonalized treatments, clinical trials, promising investigational medications, and molecular testing. Patients in Massachusetts, Maine, New Hampshire, Vermont, Connecticut, Rhode Island, New York,and New Jersey, as well asthosein other parts of the country,can access these services through their employee benefits programs. City of Hope and Northwestern University's Robert H. Lurie Comprehensive Cancer Center are also foundational members ofAccessHope.

Molecular breath analysis startup Deep Breath Intelligencesaid this week that it has entered a collaboration with Lwenstein Medical, a sleep and respiratory medicine firm based inRheinland-Pfalz, Germany.Rotkreuz, Switzerland-based DBI said that it is applying artificial intelligence to identify breath biomarkers related to obstructive sleep apnea syndrome. DBIsaid ithas initiated a study on OSASin collaboration with Lwenstein Medical,using participantsbreath samples and applying DBIs patterned analytical algorithms to provide results.

Enable Biosciences said this week it is partnering with the California Department of Public Health to survey state residents for the presence of antibodies against SARS-CoV-2. As part of the program, more than 200,000 households in California will be invited to submit dried blood samples collected at home using kits developed by Enable Bio andtheCDPH. The samples will then be tested by Enable Bio for the presence of antibodies against SARS-CoV-2 to distinguish antibody response fromviralinfection versusresponse fromvaccination. Test results will provide information about the spread of COVID-19 in California and the uptake of vaccines for the disease, South San Francisco, California-based Enable Bio said. The project is a collaboration betweenthe company,theCDPH, Stanford University, and Gauss Surgical. The first survey period concluded June 15 with the second and third enrollment periods slated tobeginat the start of 2022.

NeoGensaid this week that it has extended itsglobalanimal genomicspartnership withGencove. Thepartnership allowsNeoGento offerGencove'sSkimSeeklow-pass sequencing technology to customers in the agricultural sector, including those in the bovine, canine,poultry, and swine industries. UsingGencove'ssequencingimputationplatform,NeoGensaid it can deliver increased genomics data with improved accuracy and flexibility.

Bioceptsaid this week ithas been added to the Russell Microcap Index. Michael Nall, Biocept's president and CEO,called the nodexceptionally exciting, as a driver ofawarenessfor the cancer liquid biopsy firm within thelargerglobal investment community.

Immunoviasaid this week that its American subsidiary hasreceived a CLIA Certificate of Registration,which isan important step in the accreditation of its laboratory in Marlborough, Massachusetts, and a prerequisite to receiving clinical laboratory licensure fromtheMassachusetts Department of Public Health. Clinical laboratory licensure is required beforeImmunoviacan begin testing patients with itsImmrayPanCan-d test, the firm said.According to the Centers for Medicare and Medicaid Services, a Certificate of Registration allows a laboratory toconduct moderate and/or high complexity testing until it is inspected to determine its compliance with the CLIA regulations.

In Brief This Week is a selection of news items that may be of interest to our readers but had not previously appeared onGenomeWeb.

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In Brief This Week: Foundation Medicine, Myriad Genetics, Genetron Health, and More - GenomeWeb

Genetics

Researchers discover genetic markers that drive the timing of first sex and birth – News-Medical.Net

An Oxford-led team, working with Cambridge and international scholars, has discovered hundreds of genetic markers driving two of life's most momentous milestones - the age at which people first have sex and become parents.

In a paper published today in Nature Human Behaviour, the team linked 371 specific areas of our DNA, called genetic variants (known locations on chromosomes), 11 of which were sex-specific, to the timing of first sex and birth. These variants interact with environmental factors, such as socioeconomic status and when you were born, and are predictors of longevity and later life disease.

The researchers conducted a Genome-Wide Association Study (GWAS), a search across the entire human genome, to see if there is a relationship between reproductive behaviour and a particular genetic variant. In the largest genomic study ever conducted to date, they combined multiple data sources to examine age at first sex (N=387,338) and birth (N=542,901) in men and women. They then calculated a genetic score, with all genetic loci combined explaining around 5-6% of the variability in the average age at sexual debut or having a first child.

Our study has discovered hundreds additional genetic markers that shape this most fundamental part of our lives and have the potential for deeper understanding of infertility, later life disease and longevity."

Professor Melinda Mills, Director of the Leverhulme Centre for Demographic Science at the University of Oxford and Nuffield College, and Study's First Author

The genetic signals were driven by social factors and the environment but also by reproductive biology, with findings related to follicle-stimulating hormone, implantation, infertility, and spermatid differentiation.

Professor Mills adds 'We already knew that childhood socioeconomic circumstances or level of education were important predictors of the timing of reproduction. But we were intrigued to find literally not only hundreds of new genetic variants, but also uncover a relationship with substance abuse, personality traits such as openness and self-control, ADHD and even predictive of some diseases and longevity .'

Professor Mills says, 'We demonstrated that it is a combination of genetics, social predictors and the environment that drives early or late reproductive onset. It was incredible to see that the genetics underlying early sex and fertility were related to behavioural dis-inhibition, like ADHD, but also addiction and early smoking. Or those genetically prone to postpone sex or first birth had better later life health outcomes and longevity, related to a higher socioeconomic status in during childhood.'

Genetic factors driving reproductive behaviour are strongly related to later life diseases such as Type 2 diabetes and cardiovascular disease.

'It is exciting that the genetics underlying these reproductive behaviours may help us understand later life disease.'

Professor Mills concludes, 'Starting your sexual journey early is rooted in childhood inequality but also has links with health problems, such as cervical cancer and depression. We found particularly strong links between early sexual debut, ADHD and substance abuse, such as early age at smoking. We hope our findings lead to better understanding of teenage mental and sexual health, infertility, later life disease and treatments to help.'

Source:

Journal reference:

Mills, M.C., et al. (2021) Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour. Nature Human Behaviour. doi.org/10.1038/s41562-021-01135-3.

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Researchers discover genetic markers that drive the timing of first sex and birth - News-Medical.Net

Genetics

Genetics, Socioeconomic Factors Each Tied to Diabetes and Obesity – MedPage Today

Genetic and socioeconomic factors were each independently associated with increased risk for both type 2 diabetes (T2D) and obesity, according to a biobank study of Americans of European ancestry.

Among more than 27,000 white individuals in the Mass General Brigham Biobank, those in the highest genetic risk quintile were 5.7 times more likely to have T2D and 4.8 times more likely to have obesity compared with those in the lowest risk quintile, reported Sara Cromer, MD, of Massachusetts General Hospital in Boston.

Overall, people in both the highest genetic risk and socioeconomic status (SES) risk quintiles were 15.7 and 9.7 times more likely to have T2D and obesity, respectively, than those in the lowest risk quintiles (P<0.05 for both), according to findings presented at the virtual American Diabetes Association Scientific Sessions.

"Both of these factors should be considered when counseling patients about their individual risk and when considering interventions ... at the population level," Cromer said during her presentation.

In adjusted models, various factors were independently associated with T2D risk:

Similarly, these factors were independently associated with obesity risk:

For their study, researchers examined population data on 27,224 patients with available genetic information using electronic health care data and the Mass General Brigham Biobank. Mean age of participants was 61, while 53% were female.

To start, Cromer's team looked at several census tract-level SES measures in Boston, including education, income, and employment status. Here, scoring high on the social deprivation index (SDI) and lower population levels of college education strongly correlated with T2D and obesity, after adjusting for age and sex.

T2D status was determined based on a machine-learning phenotype, and obesity based on the phenotype or a maximum BMI 30. Genetic quintiles were determined via global extended polygenic risk scores.

For diabetes, those in the highest risk quintiles for college degree preponderance and for SDI were, respectively, 1.7 times and 1.7 times more likely to have T2D than those in the lowest risk quintiles. For obesity, these measures were 2.3 times and 1.9 times more likely for the highest versus lowest risk quintiles.

Researchers did not find any interaction between SES and genetic risk, Cromer noted. So, for example, living in a neighborhood with less SES risk does not help people overcome "bad genetics" when it comes to T2D or obesity risk, she told MedPage Today.

Cromer's team is currently conducting similar analyses of their Black and Hispanic biobank populations, she told MedPage Today. They plan to eventually conduct meta-analysis of the entire sample, featuring all the ethnicities and races. This first study was limited to white participants because the biobank population is about 15-20 times more white than either Black or Hispanic, she said, and because the available instruments are more reliable to assess those with European ancestry.

Ryan Basen reports for MedPages enterprise & investigative team. He has worked as a journalist for more than a decade, earning national and state honors for his investigative work. He often writes about issues concerning the practice and business of medicine. Follow

Disclosures

Cromer's spouse works for Johnson & Johnson Medical Devices Companies. Co-authors reported consultant work or other relationships with XY.ai, Goldfinch Bio, and Novo Nordisk. One co-author has a spouse who works for Emulate, and reported stock holdings in Invitae.

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Genetics, Socioeconomic Factors Each Tied to Diabetes and Obesity - MedPage Today

Genetics

Is It Too Late to Buy Fulgent Genetics Stock? – The Motley Fool

Fulgent Genetics(NASDAQ:FLGT) is arguably the cheapest coronavirus stock on the market -- if not the cheapest biotech of any type out here, with a price-to-earnings (P/E) valuation of just 6.6. What's more, the company has about $697.4 million in cash on its balance sheet and negligible debt. Subtract that from the company's $2.43 billion market cap, and Fulgent appears even more undervalued in terms of its enterprise value (EV).

Investors, however, are not buying into the discount story. After all, the company is heavily dependent on providing billable COVID-19 tests in the U.S., where the pandemic is largely subsiding as the government's mass vaccination campaign has successfully inoculated more than half of all adults already. Meanwhile, the stock is sitting on a 462% year-over-year gain. Given all that, is it too late for new investors to buy Fulgent Genetics?

Image source: Getty Images.

In the first quarter, Fulgent's revenue increased by a stunning 4,500% year over year to $359.4 million. Simultaneously, its net income rose to $200.7 million from a loss of $1.956 million in the prior-year period. The company billed for 3.8 million tests during the quarter -- about 290 times its test volume in Q1 2020.

Unfortunately, the company anticipates revenue from its non-COVID testing services to amount to just $100 million for the full year (gaining 174% year over year). If we assume that Fulgent's COVID tests will become irrelevant in the near future, then the stock is trading for about 17 times EV-to-sales. That is pretty expensive indeed.

Investors are probably giving the company less credit than it deserves. While new COVID-19 cases have declined sharply in many areas of the U.S. to levels below where they were in March 2020, that's simply not the case in many other areas in the world. In fact, Americans who want to travel internationally would still need to grab a negative COVID-19 test result, usually three days before departure, before heading to their destination.

That's not all; back in February, Fulgent was one of four labs selected to provide COVID-19 testing solutions to the Department of Defense. That contract is worth $2 billion in total and will last for up to five years. With all these coronavirus variants spreading, the company has a pretty sound value proposition in providing tests for national defense purposes and could supply many more in the future.

Aside from testing for COVID, Fulgent provides chromosome and gene-sequencing services that help physicians better detect cardiovascular illnesses, epilepsy, and hereditary risk factors for various types of cancer. Since many patients postponed getting these types of discretionary tests done during the pandemic, the company's gene-sequencing business is now experiencing a tailwind as people start visiting their doctors again for non-urgent reasons.

Overall, due to continued demand for COVID-19 tests for people traveling internationally, the possibility of more defense department stockpiling of such tests, and the company's solid gene-testing business, I think Fulgent has a fair shot of achieving its $830 million revenue guidance for the full year.

That number represents a 97% increase year over year, which seems enticing relative to its stock valuation -- even more so since the biotech's stock price fell sharply in February. It's now down 50% from its peak. So for those who have been thinking about buying this stock on the dip, now seems like a great time to do so.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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Is It Too Late to Buy Fulgent Genetics Stock? - The Motley Fool