Wow: Geneticists Created an Organism Immune to All Viruses – Popular Mechanics

May 5, 2023 medical

Viruses are often incredibly hard to treat. Were certainly not strangers to that fact after the last few years. Theyre extremely adaptable and very hard to destroy, making them very dangerous to human health. Antivirals can sometimes help a little, but usuallyyou get a virus, youre stuck with it.

But what if instead of trying to treat these sneaky little beasts, we could stop them in their tracks before they even enter our cells? Create an organism thats basically immune to viruses right off the bat? Well, geneticists at Harvard claim theyve done just that.

In a recent study, a team of researchers announced that they had made an E. coli bacterium immune to all viruses. Well, all they could test in the lab, anyway.

On the forefront of genetics, mental illness and trauma’s lasting effects – UC Berkeley

May 5, 2023 medical

On the forefront of genetics, mental illness and trauma's lasting effects UC Berkeley

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On the forefront of genetics, mental illness and trauma's lasting effects - UC Berkeley

Genetics

Where Myriad Genetics Stands With Analysts – Myriad Genetics (NASDAQ:MYGN) – Benzinga

May 5, 2023 medical

May 4, 2023 5:01 PM | 2 min read

Analysts have provided the following ratings for Myriad Genetics (NASDAQ:MYGN) within the last quarter:

These 4 analysts have an average price target of $23.25 versus the current price of Myriad Genetics at $21.09, implying upside.

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Below is a summary of how these 4 analysts rated Myriad Genetics over the past 3 months. The greater the number of bullish ratings, the more positive analysts are on the stock and the greater the number of bearish ratings, the more negative analysts are on the stock

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This average price target has increased by 12.48% over the past month.

Stay up to date on Myriad Genetics analyst ratings.

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Benzinga tracks 150 analyst firms and reports on their stock expectations. Analysts typically arrive at their conclusions by predicting how much money a company will make in the future, usually the upcoming five years, and how risky or predictable that company's revenue streams are.

Analysts attend company conference calls and meetings, research company financial statements, and communicate with insiders to publish their ratings on stocks. Analysts typically rate each stock once per quarter or whenever the company has a major update.

Some analysts publish their predictions for metrics such as growth estimates, earnings, and revenue to provide additional guidance with their ratings. When using analyst ratings, it is important to keep in mind that stock and sector analysts are also human and are only offering their opinions to investors.

If you want to keep track of which analysts are outperforming others, you can view updated analyst ratings along withanalyst success scores in Benzinga Pro.

This article was generated by Benzinga's automated content engine and reviewed by an editor.

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Where Myriad Genetics Stands With Analysts - Myriad Genetics (NASDAQ:MYGN) - Benzinga

Genetics

Zoonomia: Genetic research reveals all we share with animals … – Sentinel-Tribune

May 5, 2023 medical

Gunnar Kaasen and with his dog Balto, the heroic dogsled team leader, sit for a portrait in the early 1920s. As a part of the Zoonomia Project, with 11 papers published Thursday, April 27, 2023, in the journal Science, by comparing Baltos genes to those of other dogs, researchers found he was more genetically diverse than modern breeds and may have carried genetic variants that helped him survive harsh conditions. The Zoonomia Project is an international effort comparing the genetic blueprints of an array of animals, including this species, and some of the discoveries were shared in 11 papers published Thursday, April 27, 2023, in the journal Science. (AP Photo, File)

By comparing the genetic blueprints of an array of animals, scientists are gaining new insights into our own species and all we share with other creatures.

One of the most striking revelations is that certain passages in the instructions for life have persisted across evolutionary time, representing a through line that binds all mammals including us.

The findings come from the Zoonomia Project, an international effort that offers clues about human traits and diseases, animal abilities like hibernation and even the genetics behind a sled dog named Balto who helped save lives a century ago.

Researchers shared some of their discoveries in 11 papers published Thursday in the journal Science.

David OConnor, who studies primate genetics at the University of Wisconsin-Madison, said the studies tackle deep questions.

Its just the wonder of biology, how we are so similar and dissimilar to all the things around us, said OConnor, who wasnt involved in the research. Its the sort of thing that reminds me why its cool to be a biologist.

The Zoonomia team, led by Elinor Karlsson and Kerstin Lindblad-Toh at the Broad Institute of MIT and Harvard, looked at 240 species of mammals, from bats to bison. They sequenced and compared their genomes the instructions organisms need to develop and grow.

They found that certain regions of these genomes have stayed the same across all mammal species over millions of years of evolution.

One study found that at least 10% of the human genome is largely unchanged across species. Many of these regions occur outside the 1% of genes that give rise to proteins that control the activity of cells, the main purpose of DNA.

Researchers theorized that long-preserved regions probably serve a purpose and are likely what they call regulatory elements containing instructions about where, when and how much protein is produced. Scientists identified more than 3 million of these in the human genome, about half of which were previously unknown.

Scientists also focused on change within the animal kingdom. When they aligned genetic sequences for species and compared them with their ancestors, Karlsson said, they discovered that some species saw a lot of changes in relatively short periods of time. This showed how they were adapting to their environments.

One of the really cool things about mammals is that at this point in time, theyve basically adapted to survive in nearly every single ecosystem on Earth, Karlsson said.

One group of scientists looked for genes that humans dont have but other mammals do.

Instead of focusing on new genes that might create uniquely human traits, we kind of flipped that on its head, said Steven Reilly, a genetics researcher at Yale University.

Losing pieces of DNA can actually generate new features, Reilly said.

For example, he said, a tiny DNA deletion between chimps and humans caused a cascade of changes in gene expression that may be one of the causes of prolonged brain development in humans.

Another study focused on the fitness of one well-known animal: Balto.

Scientists sequenced the genome of the sled dog, who led a team of dogs carrying a lifesaving diphtheria serum to Nome, Alaska, in 1925. His story was made into a 1995 animated feature film and a statue of the pup stands in New Yorks Central Park.

By comparing Baltos genes to those of other dogs, researchers found he was more genetically diverse than modern breeds and may have carried genetic variants that helped him survive harsh conditions. One of the authors, researcher Katherine Moon of the University of California, Santa Cruz, said Balto gives us this guide through comparative genomics, showing how genetics can shape individuals.

OConnor said he expects Zoonomia to yield even more insights in the future.

To have these tools and to have the sort of audacity to ask these big questions helps scientists and others learn more about life around us, he said.

___

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institutes Science and Educational Media Group. The AP is solely responsible for all content.

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Genetics

Air pollution may increase risk of dementia, complicated by genetics – Science Daily

May 5, 2023 medical

Three years ago, an international study commissioned by the journal Lancet listed 12 modifiable factors that increased the risk of dementia, including three new ones: excessive alcohol, head injury and air pollution.

Writing in the May 2, 2023 issue of the Journal of Alzheimer's Disease, a team of researchers, led by scientists at University of California San Diego, further elaborate on how exposure to the last of those new factors -- ambient air pollution, such as car exhaust and power plant emissions -- is associated with a measurably greater risk of developing dementia over time.

Senior author William S. Kremen, PhD, professor of psychiatry and co-director of the Center for Behavior Genetics of Aging at UC San Diego School of Medicine, and colleagues examined baseline cognitive assessments of approximately 1,100 men participating in the ongoing Vietnam Era Twin Study of Aging. Average baseline age was 56, with 12 years of follow up.

They additionally looked at measures of exposure to particular matter (PM2.5) in the air and nitrogen dioxide (NO2), which is created when fossil fuels are burned, and assessments of episodic memory, executive function, verbal fluency, brain processing speed and APOE genotype.

APOE is a gene that provides instructions for making a protein crucial to the transport of cholesterol and other fats in the bloodstream. One version or allele of APOE called APOE-4 has been identified as a strong risk factor gene for Alzheimer's disease.

The researchers found that participants with higher levels of exposure to PM2.5 and NO2 in their 40s and 50s displayed worse cognitive functioning in verbal fluency from age 56 to 68. And persons with the APOE-4 allele appeared even more sensitive, with those exposed to higher PM2.5 levels showing worse outcomes for executive function and those with higher NO2 exposure showing worse outcomes involving episodic memory.

Executive function refers to higher-level cognitive skills used to plan, control and coordinate mental behaviors and acts. Episodic memory is the ability to recall and re-experience distinct, specific past events.

"The 2020 Lancet report concluded that modifying 12 risk factors, which include others like education and depression at midlife, could reduce dementia incidence by as much as 40%," said first author Carol E. Franz, PhD, professor of psychiatry and co-director of the Center for Behavior Genetics of Aging.

"That report placed ambient air pollution as a greater risk for Alzheimer's and related dementias than diabetes, physical activity, hypertension, alcohol consumption and obesity. Our findings underscore the importance of identifying modifiable risk factors as early in life as possible -- and that the processes by which air pollution affects risk for later-life cognitive decline begins earlier than previous studies suggest."

Co-authors include: Daniel E. Gustavson, University of Colorado Boulder; Jeremy A. Elman, Christine Fennema-Notestine, Donald J. Hagler, Jr., Xin M. Tu, Tsung-Chin Wu and Nathan Whitsell, all at UC San Diego; Aaron Baraff, VA Puget Sound Health Care, Seattle; Jaden DeAnda, UC San Diego and San Dieog State University; Asad Beck and Joel D. Kaufman, University of Washington; Caleb E. Finch and Jiu-Chiuan Chen, University of Southern California; and Michael J. Lyons, Boston University.

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Air pollution may increase risk of dementia, complicated by genetics - Science Daily

Genetics

CRISPR and single-cell sequencing pinpoint causal genetic variants for traits and diseases – Medical Xpress

May 5, 2023 medical

This article has been reviewed according to ScienceX's editorial process and policies. Editors have highlighted the following attributes while ensuring the content's credibility:

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Credit: CC0 Public Domain

A major challenge in human genetics is understanding which parts of the genome drive specific traits or contribute to disease risk. This challenge is even greater for genetic variants found in the 98% of the genome that does not encode proteins.

A new approach developed by researchers at New York University and the New York Genome Center combines genetic association studies, gene editing, and single-cell sequencing to address these challenges and discover causal variants and genetic mechanisms for blood cell traits.

Their approach, dubbed STING-seq and published in Science, addresses the challenge of directly connecting genetic variants to human traits and health, and can help scientists identify drug targets for diseases with a genetic basis.

Over the past two decades, genome-wide association studies (GWAS) have become an important tool for studying the human genome. Using GWAS, scientists have identified thousands of genetic mutations or variants associated with many diseases, from schizophrenia to diabetes, as well as traits such as height. These studies are conducted by comparing the genomes of large populations to find variants that occur more often in those with a specific disease or trait.

GWAS can reveal what regions of the genome and potential variants are implicated in diseases or traits. However, these associations are nearly always found in the 98% of the genome that does not code for proteins, which is much less well understood than the well-studied 2% of the genome that codes for proteins. A further complication is that many variants are found in close proximity to each other within the genome and travel together through generations, a concept known as linkage. This can make it difficult to tease apart which variant plays a truly causal role from other variants that are just located nearby. Even when scientists can identify which variant is causing a disease or trait, they do not always know what gene the variant impacts.

"A major goal for the study of human diseases is to identify causal genes and variants, which can clarify biological mechanisms and inform drug targets for these diseases," said Neville Sanjana, associate professor of biology at NYU, associate professor of neuroscience and physiology at NYU Grossman School of Medicine, a core faculty member at New York Genome Center, and the study's co-senior author.

"The huge success in GWAS has highlighted the challenge of extracting insights into disease biology from these massive data sets. Despite all of our efforts during the past 10 years, the glass was still just half fullat best. We needed a new approach," said Tuuli Lappalainen, senior associate faculty member at the New York Genome Center, professor of genomics at the KTH Royal Institute of Technology in Sweden, and the study's co-senior author.

A recent scientific breakthrough in the treatment of sickle cell anemiaa genetic disorder marked by episodes of intense painillustrates how combining GWAS with cutting-edge molecular tools like gene editing can identify causal variants and lead to innovative therapies. Using GWAS, scientists identified areas of the genome important for producing fetal hemoglobin, a target based on its promise for reversing sickle cell anemia, but they did not know which exact variant drives its production.

The researchers turned to CRISPRa gene editing tool that uses "molecular scissors to cut DNA," according to Sanjanato edit the regions identified by GWAS. When CRISPR edits were made at a specific location in the noncoding genome near a gene called BCL11A, it resulted high levels of fetal hemoglobin.

CRISPR has now been used in clinical trials to edit this region in bone marrow cells of dozens of patients with sickle cell anemia. After the modified cells are infused back into patients, they begin producing fetal hemoglobin, which displaces the mutated adult form of hemoglobin, effectively curing them of sickle-cell disease.

"This success story in treating sickle cell disease is a result of combining insights from GWAS with gene editing," said Sanjana. "But it took years of research on only one disease. How do we scale this up to better identify causal variants and target genes from GWAS?"

The research team created a workflow called STING-seqSystematic Targeting and Inhibition of Noncoding GWAS loci with single-cell sequencing. STING-seq works by taking biobank-scale GWAS and looking for likely causal variants using a combination of biochemical hallmarks and regulatory elements. The researchers then use CRISPR to target each of the regions of the genomes implicated by GWAS and conduct single-cell sequencing to evaluate gene and protein expression.

In their study, the researchers illustrated the use of STING-seq to discover target genes of noncoding variants for blood traits. Blood traitssuch as the percentages of platelets, white blood cells, and red blood cellsare easy to measure in routine blood tests and have been well-studied in GWAS. As a result, the researchers were able to use GWAS representing nearly 750,000 people from diverse backgrounds to study blood traits.

Once the researchers identified 543 candidate regions of the genome that may play a role in blood traits, they used a version of CRISPR called CRISPR inhibition that can silence precise regions of the genome.

After CRISPR silencing of regions identified by GWAS, the researchers looked at the expression of nearby genes in individual cells to see if particular genes were turned on or off. If they saw a difference in gene expression between cells where variants were and were not silenced, they could link specific noncoding regions to target genes. By doing this, the researchers could pinpoint which noncoding regions are central to specific traits (and which ones are not) and often also the cellular pathways through which these noncoding regions work.

"The power of STING-seq is we could apply this approach to any disease or trait," said John Morris, a postdoctoral associate at the New York Genome Center and NYU and the first author of the study.

Using STING-seq to test clusters of likely variants and see their impact on genes eliminates the guesswork scientists previously encountered when faced with linkage among variants or genes closest to variants, which are often but not always the target gene. In the case of a blood trait called monocyte count, applying CRISPR caused one gene, CD52, to clearly stand out as significantly alteredand while CD52 was near the variant of interest, it was not the closest gene, so may have been overlooked using previous methods.

In another analysis, the researchers identified a gene called PTPRC that is associated with 10 blood traits, including those related to red and white blood cells and platelets. However, there are several GWAS-identified noncoding variants within close proximity and it was challenging to understand which (if any) could modulate PTPRC expression. Applying STING-seq enabled them to isolate which variants were causal by seeing which changed PTPRC expression.

While STING-seq can identify the target gene and causal variant by silencing the variants, it does not explain the direction of the effectwhether a specific noncoding variant will crank up or reduce expression of a nearby gene. The researchers took their approach a step further to create a complementary approach they call beeSTING-seq (base editing STING-seq) that uses CRISPR to precisely insert a genetic variant instead of just inhibiting that region of the genome.

The researchers envision STING-seq and beeSTING-seq being used to identify causal variants for a wide range of diseases that can either be treated with gene editingas was used in sickle cell anemiaor with drugs that target specific genes or cellular pathways.

"Now that we can connect noncoding variants to target genes, this gives us evidence that either small molecules or antibody therapies could be developed to change the expression of specific genes," said Lappalainen.

More information: John A. Morris et al, Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens, Science (2023). DOI: 10.1126/science.adh7699. http://www.science.org/doi/10.1126/science.adh7699

Journal information: Science

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CRISPR and single-cell sequencing pinpoint causal genetic variants for traits and diseases - Medical Xpress

Genetics

Dog Genetics Reveal Surprising Relationships among Breeds – Scientific American

May 5, 2023 medical

When it comes to dog traits, genetics-based lineages are more telling than human-made categories

There are 356 unique breeds of dog, according to the Fdration Cynologique Internationale, the largest global organization of national kennel clubs. Yet understanding the genetic drivers for the behavioral traits that set these breeds apart has been a long-standing scientific challenge. In a recent study, scientists compiled DNA sequences for more than 4,000 domesticated and wild dogs to uncover the genetic connections between them and found that they sometimes defy the conventional, human-made breed categories. Instead of assuming that some breeds were related to others, the researchers found a new way to group dogs based on their genetics.

The analysis revealed that dogs fall into 10 lineage groups with close genetic connections. To see whether dogs in each lineage shared similar traits, the scientists combined their data with behavioral surveys filled out by the owners of around 46,000 purebred dogs. They found that many traits were common among members of each lineage and that certain genetic variants might be related to these traits. We found a series of genes that turned out to be important in brain development in herding breeds, says Elaine A. Ostrander of the National Human Genome Research Institute, a co-author on the study in Cell. That's a great jumping-off point to study how herding dogs herd.

These two plots show two different ways of categorizing dog breedsone based on human-defined groupings and another based on lineages derived from genetic data. In both plots, each of the 4,000 dots represents an individual dog. Their positions (identical in both plots) reflect how closely genetically related they are to other dogstwo nearby dots are genetically similar, and two distant dots diverge more.

This article was originally published with the title "The DNA of Dog Breeds" in Scientific American 328, 5, 88 (May 2023)

doi:10.1038/scientificamerican0523-88

Clara Moskowitzis Scientific American's senior editor covering space and physics. She has a bachelor's degree in astronomy and physics from Wesleyan University and agraduate degree in science journalism from the University of California, Santa Cruz. Follow Moskowitz on Twitter @ClaraMoskowitzCredit: Nick Higgins

Emily V. Dutrow is a geneticist interested in the evolution of complex traits. She is a postdoctoral fellow at the National Human Genome Research Institute of the National Institutes of Health where she studies canine behavioral diversification.

MSJONESNYC (Heather Jones) is an award winning information and motion graphics designer based in Brooklyn. She enjoys exploring the world through graphics, using text, data, illustration, and motion. Her work can be found at msjonesnyc.com.

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Genetics

Genetics could be why your meds aren’t working. UCSF is studying … – San Francisco Chronicle

May 5, 2023 medical

Prescription drugs and recommended doses are often adjusted according to a patients age, weight and gender. But subtler factors, including specific genes, can also determine how well a drug works or whether you should take it at all.

UCSF next week will start a genetic testing program for patients, believed to be the first of its kind in California and among only a handful in the United States, that helps tailor medications to patients based on their individual genetic makeup.

The move, announced by UCSF Tuesday, marks an advancement in precision medicine the treatment and prevention of disease personalized for each persons genes and environment at one of the Bay Areas leading academic medical centers and largest health care providers. UCSFs leaders hope it will help reduce adverse drug reactions, which nationwide lead to thousands of deaths each year, according to federal data.

The testing approach, known as pharmacogenetics or pharmacogenomics, will involve conducting a blood test that analyzes 15 genes that affect the bodys response to 56 drugs. These drugs have been found to cause adverse reactions, harmful side effects and other responses that render the medication less effective in patients who have certain variants in those 15 genes. The drugs include both oral medications and intravenous therapies, and treat a range of conditions such as cancer, high cholesterol, pain and psychiatric disorders.

Implementing pharmacogenetics will make a significant dent in reducing those deaths and adverse reactions, said UCSF Chief Genomics Officer Dr. Aleksandar Rajkovic, who co-leads the program.

Currently, some UCSF patients may get the genetic test if their doctor believes its relevant to their treatment plan and orders it. Under the new program, the test will be more systematically offered across many practice groups including oncology, pediatrics, cardiology and neurology. UCSFs electronic medical record system will flag patients who are taking one or more of the 56 drugs, alert their doctors of a potential drug-gene interaction and ask physicians to order the test.

Some people, for instance, have a genetic variant known to reduce the bodys ability to transport cholesterol-lowering medications to the liver to be metabolized and eliminated, which leads to a buildup of the drugs in the body that can cause muscle pain. And some people with psychiatric disorders either metabolize drugs too poorly and are at risk of experiencing side effects caused by toxic levels of the drug, or metabolize drugs too quickly to benefit from standard doses. The electronic system will notify doctors of these potential interactions.

The program will initially test only about 5,000patients a fraction of the 118,000 UCSF clients who are taking one or more of the 56 drugs in question. UCSF will bill patients insurance for the test, but not all insurers cover pharmacogenetic testing.

It cost UCSF about half a million dollars to roll out the program, and it pays for itself once the savings in drug costs and other costs of adverse side effects such as return visits to adjust dosing and hospitalizations are calculated, Rajkovic said.

A recent study published in the medical journal the Lancet found that pharmacogenetic testing at hospitals in seven European countries resulted in a 30% reduction in adverse drug reactions.

Pharmacogenetic testing is not widely deployed in the U.S. health care system. The handful of U.S. hospitals that have such testing programs are, like UCSF, affiliated with academic research institutions with the resources and expertise to advance the practice, such as the Mayo Clinic, St. Jude Childrens Hospital, Vanderbilt University Medical Center and the University of Chicago.

Pharmacist Bani Tamraz, who co-leads the UCSF pharmacogenomics program, urged California lawmakers recently to expand access to pharmacogenomic testing, testifying in support of a bill that would require the states public insurance plan for low-income residents, Medi-Cal, to cover it.

Were very proud of the fact that patients are going to have this little piece of information available to their providers to integrate in their care, he said. Drug responses are complex. Genetics is one of many factors. But now that information will be available to the doctor so they can go beyond their weight, height, age to make a decision on your medication.

Correction: An earlier version of this story misspelled the name of Dr. Aleksandar Rajkovic.

Reach Catherine Ho: cho@sfchronicle.com

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Genetics could be why your meds aren't working. UCSF is studying ... - San Francisco Chronicle

Genetics

Offering genetic testing at the point of care may increase uptake – Medical Xpress

May 5, 2023 medical

This article has been reviewed according to ScienceX's editorial process and policies. Editors have highlighted the following attributes while ensuring the content's credibility:

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trusted source

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Credit: Unsplash/CC0 Public Domain

Genetic testing for hereditary cancers, such as breast, colon, pancreatic, and ovarian cancer, helps at-risk individuals understand their familial risk for these diseases and make informed decisions about next steps in care. But fewer than 20 percent of at-risk patients utilize this testing, and even fewer engage in genetic counseling after referral, often due to clinical workflow challenges or barriers to care.

Amid national efforts to increase access to genetic testing, a new study led by a Boston University School of Public Health researcher has identified a streamlined approach in clinical settings that may help advance these efforts by simplifying the process of identifying hereditary cancer risk and determining subsequent care.

Published in the journal Genetics in Medicine, the study measured patient uptake of genetic testing in clinical practices that implemented a digital cancer risk assessment across different clinical workflow models, including a traditional referral, point-of-care scheduling, point-of-care counseling, and point-of-care genetic testing.

The findings showed that clinical practices that combined a digital cancer risk assessment along with point-of-care testing more than doubled the average uptake of genetic testing. While this streamlined strategy shows promise for cancer prevention and detection, the researchers say more work needs to be done to increase utilization of these valuable services.

"This study is one of the largest to show the possible advantages of a scalable mainstreamed approach to facilitating greater uptake of genetic testing across a variety of clinical settings," says study lead and corresponding author Dr. Catharine Wang, associate professor of community health sciences at BUSPH. "In spite of this advantage, however, overall testing rates varied widely among sites deploying this approach, suggesting that there is still much room for improvement."

For the study, Dr. Wang and colleagues from BUSPH and digital healthcare company CancerIQ, Inc. analyzed data among approximately 33,000 high-risk patients (out of more than 100,000 screened) who met genetic testing criteria for breast and ovarian cancer, and/or Lynch syndrome, an inherited disorder that increases risk for many types of cancer. Providers in 27 health centers or primary care/specialty offices conducted a hereditary cancer risk assessment using the CancerIQ digital precision prevention platform that optimizes clinical workflow through a range of automated processes, including gathering data and categorizing patients into different risk tiers, streamlining the genetic counseling and testing process, and creating personalized care plans.

In the traditional referral workflow, patients were referred to a genetic specialist who called to schedule an appointment; with point-of-care scheduling, they scheduled testing with a specialist immediately during their appointment; with point-of care counseling, the patients were offered an immediate consult by with a specialist; and with point-of-care testing, they were offered immediate genetic testing once they were determined to be at risk.

On average, 16 percent of high-risk patients opted for genetic testing overall, from 35 percent of patients at offices that implemented the point-of-care testing workflow, to just 6 percent of patients at offices utilizing the referral process. The point-of-care testing model enables doctors to educate and discuss the testing with patients directly, rather than necessitate an additional pretest appointment with a genetic counselor.

The researchers say further work should address continued challenges with this workflow, such as physicians' hesitation to order tests or counsel patients, and patients' concerns about insurance coverage.

"We still have a lot of learn about best practices for increasing access to cancer genetic services, particularly among patients who are medically underserved and face numerous logistical and structural barriers to accessing care," Dr. Wang says. "Given these current constraints, it is important to examine alternate models of care delivery, and this study suggests that point-of-care testing is an effective delivery model for improving genetic testing outcomes."

The senior author of the study is Dr. Ziming Xuan, professor of community health sciences at BUSPH. The study was coauthored by Haibo Lu, cofounder and chief data officer of Cancer IQ, and the late Dr. Deborah Bowen, who was a professor in the Department of Bioethics and Humanities at the University of Washington School of Medicine.

More information: Catharine Wang et al, Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of 4 clinical workflows, Genetics in Medicine (2023). DOI: 10.1016/j.gim.2023.100802

Journal information: Genetics in Medicine

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Genetics

promotes five faculty members in genetics, structural biology … – Salk Institute

May 5, 2023 medical

April 28, 2023 April 28, 2023

LA JOLLAFive Salk Institute faculty members have been promoted for their notable, innovative contributions to science. These faculty members have demonstrated leadership in their disciplines, pushing the boundaries of basic scientific research. Assistant Professors Sung Han, Dmitry Lyumkis, and Graham McVicker were promoted to associate professors, and Associate Professors Sreekanth Chalasani and Ye Zheng were promoted to professors. The promotions were based on Salk faculty and nonresident fellow recommendations and approved by Salks president and Board of Trustees on April 21, 2023.

Sung, Dmitry, Graham, Shrek, and Ye have all made significant advances in their respective fields, with discoveries that span a range of scientific disciplines and reflect the creativity that is central to Salks identity, says Salk President Gerald Joyce. We are eager to see what they accomplish next.

Sung Han, holder of the Pioneer Fund Developmental Chair, works to understand how the brain recognizes environmental threats and sends signals that change physiology, metabolism, behavior, and emotion to avoid those threats. When this threat signaling pathway goes awry, it can create hypersensitivity, a characteristic of neuropsychiatric disorders, such as post-traumatic stress disorder (PTSD), as well as other panic and anxiety disorders. He recently uncovered a molecular pathway that initiates a fear response and described the connection between feelings of fear and breathing rhythm. Han also works to understand the science behind overdoses, which led to his discovery of a group of neurons that play a key role in the disrupted breathing that is often characteristic of overdose deaths.

Dmitry Lyumkis, holder of the Hearst Foundation Developmental Chair, investigates the mechanisms by which biological invaders (pathogens), like viruses, interplay with their hosts to establish and maintain infection. His lab uses multidisciplinary biophysical techniques centered around cryo-electron microscopy to understand how viral and host proteins assemble, interact, and produce diverse functional outcomes. Understanding the form and function of proteins helps unravel the complex roles they play in viral infections and in human diseases, such as cancer, and informs therapeutic strategies to target those diseases. He recently determined the molecular structure of HIV Pol, a protein that plays a key role in the late stages of HIV replication when the virus begins spreading throughout the body.

Graham McVicker, holder of the Frederick B. Rentschler Developmental Chair, studies how human genetic differences, known as genetic variants, affect traits and diseases. In the past decade, thousands of genetic variants have been associated with human diseases. However, the function of most of these variants is unknown and difficult to determine, since they are often in what are called noncoding portions of the human genome. Noncoding regions do not provide instructions for making proteins that enable cell function. Instead, research suggests they influence when and where (under which conditions and in which cell types) specific proteins are made by the coding portions of the genome. McVicker uses CRISPR and computational analysis to understand the function of each genetic variant in every cell type, with a particular focus on understanding cancer and diseases related to the immune system. His long-term goal is to reveal novel disease mechanisms that could support the development of personalized therapies. He was recently awarded a Curebound Discovery Grant and a Genomic Innovator Award.

Sreekanth Chalasani studies how animals make complex strategic decisions, such as balancing the quest for food with territorial defense and predator avoidance. His work has revealed the brain circuits that underlie these complex decisions. He also uses worm and mouse models to pinpoint the differences between healthy and dysfunctional brains, make inferences about the human brain, and shed light on conditions like autism spectrum disorder, post-traumatic stress disorder (PTSD), anxiety, and depression. He recently discovered how hunger signals in the gut communicate with the brain, and identified the cells and connections in the brain that facilitate decision making. Additionally, he engineered mammalian cells to be activated by sonogenetics, paving the way for other non-invasive versions of deep brain stimulation, pacemakers, and insulin pumps.

Ye Zheng studies the immune system dysfunction that causes inflammation and autoimmune disorders like rheumatoid arthritis, multiple sclerosis, type 1 diabetes, and asthma. Zheng focuses on regulatory T cells, which control immune responses and whose dysfunction has been linked to multiple autoimmune diseases. By looking at the genes that control regulatory T cells, he hopes to find new ways to manage T cell dysfunction and inspire future therapeutics. Recently, Zheng found a new target for alopecia treatment by discovering that regulatory T cells communicate with hair follicles to enable hair regeneration. Additionally, when looking at allergic skin inflammation in mice, he found that obesity changes the molecular underpinnings of allergic reactionsa finding that may have implications for allergies in humans, too.

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