Daily Archives: December 30, 2020

Breaking down the one joke Stanley Kubrick hid within 2001: A Space Odyssey – Far Out Magazine

Posted: December 30, 2020 at 4:58 pm

More than half a century ago, director Stanley Kubrick, alongside futuristic writer Arthur C. Clark set out to make, a good science fiction cinematic experience. The resulting film,2001: A Space Odyssey,premiered in spring 1968 (nearly a year before Neil Armstrong landed on the moon) is a landmark moment in the history fo cinema and one that has influenced sci-fi filmmakers for generations including the likes of George Lucas, Steven Spielberg, and Christopher Nolan.Nolan, in an interview with the Stanley Kubrick Appreciation Society, said, [2001] is in dialogue with our ideas of the future.

The influence of2001: A Space Odysseyon subsequent sci-fi technology and special effects has been pervasive. The film won an Oscar for its pioneering special effects and has been called a quantum leap in technological advancements by film criticJames Verneire. However the concurrent artistic and philosophical bravura of the film is unparalleled. Never before or after has a film on space engaged in such immersive visual dialogues on the philosophy of humanitys evolution and the philosophy of technological advancement. Unlike Kubricks 1964 nuclear satireDr. Strangelove or: How I Learned To Stop Worrying and Love The Bomb,2001:A Space Odysseyrestrained its use of humour to one hidden intentional joke which stopped the comic element of an otherwise ambiguous film from flushing down the toilet.

The virtuosity of Kubrick is indeed in infusing the scientific with the enigmatic. The subliminal transcendence of the trajectory of 2001 can be akin to a psychedelic hallucinogen ingestion induced epiphany or Scientological epiphany depending on the viewers biases. At the time of its premiere in 1968, Renata Adler in the Times described the movie as somewhere between hypnotic and immensely boring.

Indeed one of the biggest philosophical easter eggs hidden within2001:A Space Odysseyis the philosopher Friedrich Nietzsche. The film opens to Richard Strausss evocative tone poem, Also Sprach Zarathustra based on Nietzsches, Thus spoke Zarathustra, with the visual the sun, moon and earth aligning in the symbolism of Zoroastrianism, based in the teaching of Zoroaster (also known as Zarathustra).

2001s divergence from quintessential sci-fi music is reiterated with Johann Strauss The Blue Danube playing to the docking of the space shuttle. The films divergence from the staple is future exacerbated by exiguous verbal sound in the film. While most cinematic pictures rely on dialogues to reveal plotlines, Kubrick intended 2001 to be a visual experience, mostly devoid of verbiage. In 1970, Kubrick explained that the movie was basically a visual, non-verbal experience. It avoids intellectual verbalisation and reaches the viewers subconscious in a way that is essentially poetic and philosophical.

Kubrick further added, I think that 2001, like music, succeeds in short-circuiting the rigid surface cultural blocks that shackle our consciousness to narrowly limited areas of experience and is able to cut directly through to areas of emotional comprehension.

2001 exemplifies Hitchcocks dictum not to tell what you can show. The narrative of the film unfolds in four movements:

The Dawn Of Man

The initial Dawn of Man segment opens with the eponymous landscape shots of dawn in prehistoric earth. A tribe of apes in a Darwinian struggle for survival engage in territorial battle over a watering hole with another tribe of apes only to be defeated. The former tribe of humanoid primates encounter a mysterious black monolith. The monolith accelerates their enlightenment, as one of the Apes figures out the use of bones as weapons and kills a tapir, turning the pirates into carnivores. The tribe deploys their newfound weapon in a battle against the opposing tribe and kills the leader of the opposing tribe.

In triumphant jubilation akin to a footballers celebratory high five, the ape-man flings the bone in the air. In one of most iconic jump-cuts in cinematic history, the bone in the air transforms into what is presumably a space satellite, propelling the timeline of the narrative forward by four million years. According to Clark, the Space Satellite is supposed to be an orbiting space bomb, a weapon in space. Thus the transition from the Pleistocene era to space-age is tethered by the notion that human evolution is concurrent with the evolution of bigger and better ways of destruction.

The Floyd Segment

This segment introduces Dr Heywood Floyd (William Sylvester) en-route to a space station and onwards to Clavius, a lunar settlement. Replete with technological advancements such as artificial gravity, zero-gravity toilets, voiceprint recognition, video payphones, corporatisation of space travel (did someone say Elon Musk?) Clarke and Kubricks futuristic predictions are of near Nostradamus proportions of accuracy if not wholly infallible and a tad over-optimistic.

The banality of dialogues between Floyd and his Russian counterparts is interspersed with the parody of a full page of instructions to use a zero-gravity toilet. The narrative progresses with the revelation of the discovery of a monolith, now identified as TMA-1 or Tycho Magnetic Anomaly, buried under the lunar surface which emits a signal to Jupiter.

The fearful reverence of the apes is replaced by the arrogance of man as the astronauts try to take a picture in front of the monolith. Under instructions from the National Council of Astronautics, Floyd prohibits his colleagues from disclosing the news of the TMA-1.

The Jupiter Mission

Fast forward 18 months Dr Frank Poole (Gary Lockwood)) and Dr David Bowman (Keir Dullea) are aboard a spacecraft, Discovery 1, on an expedition to Jupiter along with three other astronauts in hibernation and a H.A.L 9000 (voiced by Douglas Rain) supercomputer that talks in a Canadian accent.

In a fastidious sub-plot, the question of the sentience of the machine is evoked when H.A.L who proclaimed to be foolproof and incapable of error misdiagnoses a fault in AE-35 unit and Poole and Bowman discuss disconnecting HALs primary brain functions. HAL goes ape-shit crazy (Remember the primate with bone?) and kills the entire crew except for Dave, who manages to disconnect HAL. The supercomputer is acutely humane in his last moments as it says, I am afraid Dave, my mind is going, I can feel it.

Jupiter and Beyond the infinite

Perhaps the most baffling part of the movie is its ending, which is more evocative than instructive. A third monolith suspended in Jupiters atmosphere propels Dave in a space pod through a kaleidoscopic, psychedelic plethora of colours and shapes, popularly known as the Stargate sequence.

Kubricks special effects supervisor Douglas Trumbull used a pioneering slit-scan technique to achieve the impressionistic psychedelic effect, a feat which will be replicated decades later by CGI. Dave is transported into a neo-classical French style room, and in an anachronistic time wrap the film rapidly shifts perspective from young Dave to an older Dave and finally, a bedridden Dave, who reaches towards the monolith in action oddly reminiscent of Adam reaching out to God in Michaelangelos fresco in the Sistine chapel, only to be transformed into a foetal Star child.

The film ends in a shroud of ambiguity with the star child floating in space near earth. However, Kubrick, unperturbed by the annals of audience restlessness to the pervasiveness of ambiguity in 2001 said in aninterview with Joseph Gelmis: Once youre dealing on a nonverbal level, ambiguity is unavoidable. But its the ambiguity of all art, of a fine piece of music or a paintingyou dont need written instructions by the composer or painter accompanying such works to explain them.

Perhaps, thus the zero-gravity toilet instructionis the only intentional joke in the film. In a scene aboard the space station, Floyd is seen peering at a detailed and convoluted instruction manual on the use of the zero-gravity toilet. Kubricks disdain of instructions for the understanding of the film highlights the irony of a page long instructions from the zero-gravity toilets. In an interview, Kubricks explained the zero-gravity toilet was the only intentional joke in the film. That evolution and technological advancement would lead to convoluting of tending to basic human needs is well worth a snigger. Despite its ambiguity, Kubrick doesnt want to spell out a verbal roadmap for 2001. Kubricks film doesnt come with an instruction manual, but the zero-gravity toilet does.

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Catalytic converter thefts on the rise, especially from large vehicles – Picayune Item – Picayune Item

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Parts of vehicles associated with the exhaust system may not seem to carry much value, but catalytic converters are being stolen in this and surrounding areas due to the amount a person can get selling them for scrap.

Law enforcement officers with the Pearl River County Sheriffs Department and Picayune Police Department have noticed an uptick in those thefts recently.

Maj. Joe Quave with the Sheriffs Department said that after the devices are cut from the vehicle, the suspects take them to scrap yards where they can get between $50 to $300 per catalytic converter. The devices are valuable because they contain rare metals instrumental in the process to make vehicle exhaust safer for the environment.

So far this year, 11 instances of the devices being stolen from vehicles in this county have been reported to the Sheriffs Department, five of which occurred this month, Quave said.

The cost to replace one of those devices can range from $200 to almost $2,000, depending on the vehicle involved.

Larger vehicles such as church vans, buses and RVs seem to be the hardest hit.

Picayune Police Assistant Chief James Bolton said several businesses and churches in the Picayune area were hit recently, totaling more than 11 thefts since September, where an employee at Paw Paws Camper City reported the theft of a catalytic converter off an RV. On Nov. 4, five more were stolen from RVs at the same business.

Staff at Walkers Collision Center also reported the theft of catalytic converters from five vehicles on Dec. 15. This month, several reports of the devices being stolen off church vans or business vehicles were reported, such as at Anointed Dove Ministries, East Jerusalem Baptist Church, Picayune Funeral Home and Pauls Pastry, Bolton said.

Bolton said his department is working with the Pearl River County Sheriffs Department as well as a number of other agencies in surrounding jurisdictions who are working similar thefts that occurred in those areas, such as St. Tammany Parish, Stone County, Jackson County, Waveland, Gulfport and Wiggins.

Law enforcement officials suggest parking vehicles in secure areas when possible, particularly in a garage. If a garage is not available, its a good idea to park vehicles in areas where there is plenty of light, and where surveillance footage can be captured.

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Common brain malformation traced to its genetic roots – Washington University School of Medicine in St. Louis

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Discovery could aid early screening, shed light on how Chiari malformation arises

The lowest part of a child's brain is visible below the bottom of the skull in this MRI scan and shows evidence of a Chiari 1 malformation. Researchers at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes linked to brain development, and that children with large heads are at increased risk of developing the condition.

About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. But in about one in 10 of those children, the condition causes headaches, neck pain, hearing, vision and balance disturbances, or other neurological symptoms.

In some cases, the disorder may run in families, but scientists have understood little about the genetic alterations that contribute to the condition. In new research, scientists at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes involved in brain development.

The condition occurs when the lowest parts of the brain are found below the base of the skull. The study also revealed that children with unusually large heads are four times more likely to be diagnosed with Chiari 1 malformation than their peers with normal head circumference.

The findings, published Dec. 21 in the American Journal of Human Genetics, could lead to new ways to identify people at risk of developing Chiari 1 malformation before the most serious symptoms arise. It also sheds light on the development of the common but poorly understood condition.

A lot of times people have recurrent headaches, but they dont realize a Chiari malformation is the cause of their headaches, said senior author Gabriel Haller, PhD, an assistant professor of neurosurgery, of neurology and of genetics. And even if they do, not everyone is willing to have brain surgery to fix it. We need better treatments, and the first step to better treatments is a better understanding of the underlying causes.

If people start experiencing severe symptoms like chronic headaches, pain, abnormal sensations or loss of sensation, or weakness, the malformation is treated with surgery to decompress the Chiari malformation.

Theres an increased risk for Chiari malformations within families, which suggests a genetic underpinning, but nobody had really identified a causal gene, Haller said. We were able to identify two causal genes, and we also discovered that people with Chiari have larger head circumference than expected. Its a significant factor, and easy to measure. If you have a child with an enlarged head, it might be worth checking with your pediatrician.

To identify genes that cause Chiari 1 malformation, Haller and colleagues sequenced all the genes of 668 people with the condition, as well as 232 of their relatives. Of these relatives, 76 also had Chiari 1 malformation and 156 were unaffected. The research team included first author Brooke Sadler, PhD, an instructor in pediatrics, and co-authors David D. Limbrick, Jr., MD, PhD, a professor of neurosurgery and director of the Division of Pediatric Neurosurgery, and Christina Gurnett, MD, PhD, a professor of neurologyand director of the Division of Pediatric and Developmental Neurology, among others.

Sequencing revealed that people with Chiari 1 malformation were significantly more likely to carry mutations in a family of genes known as chromodomain genes. Several of the mutations were de novo, meaning the mutation had occurred in the affected person during fetal development and was not present in his or her relatives. In particular, the chromodomain genes CHD3 and CHD8 included numerous variants associated with the malformation.

Further experiments in tiny, transparent zebrafish showed that the gene CHD8 is involved in regulating brain size. When the researchers inactivated one copy of the fishs chd8 gene, the animals developed unusually large brains, with no change in their overall body size.

Chromodomain genes help control access to long stretches of DNA, thereby regulating expression of whole sets of genes. Since appropriate gene expression is crucial for normal brain development, variations in chromodomain genes have been linked to neurodevelopmental conditions such as autism spectrum disorders, developmental delays, and unusually large or small heads.

Its not well known how chromodomain genes function since they have such a wide scope of activity and they are affecting so many things at once, Haller said. But they are very intriguing candidates for molecular studies, to understand how specific mutations lead to autism or developmental delay or, as in many of our Chiari patients, just to increased brain size without cognitive or intellectual symptoms. Wed like to figure out the effects of each of these mutations so that in the future, if we know a child has a specific mutation, well be able to predict whether that variant is going to have a harmful effect and what kind.

The association between chromodomain genes and head size inspired Haller and colleagues to measure the heads of children with Chiari malformations, comparing them to age-matched controls and to population averages provided by the Centers for Disease Control and Prevention. Children with Chiari tended to have larger than average heads. Those children with the largest heads bigger than 95% of children of the same age were four times more likely to be diagnosed with the malformation.

The findings suggest that children with larger heads or people with other neurodevelopmental disorders linked to chromodomain genes may benefit from screening for Chiari malformation.

A lot of kids that have autism or developmental disorders associated with chromodomain genes may have undiscovered Chiari malformations, Haller said. The only treatment right now is surgery. Discovering the condition early would allow us to watch, knowing the potential for serious symptoms is there, and perform that surgery as soon as its necessary.

Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Burnetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. American Journal of Human Genetics. Dec. 21, 2020. DOI: 10.1016/j.ajhg.2020.12.001

This study was funded by Sam and Betsy Reeves and the Park-Reeves Syringomyelia Research Consortium; the University of Missouri Spinal Cord Injury Research Program; the Childrens Discovery Institute of St. Louis Childrens Hospital and Washington University; the Washington University Institute of Clinical and Translational Sciences, grant number UL1TR000448 from the National Center for Advancing Translational Sciences of the National Institutes of Health (NIH); the Eunice Kennedy Shriver National Institute of Child Health & Human Development, award number U54HD087011 to the Intellectual and Developmental Disabilities Research Center at Washington University; the Swiss National Science Foundation, grant number 31003A_182632; and the Jrme Lejeune Foundation.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Why CRISPR Therapeutics, Editas Medicine, and Intellia Therapeutics Stocks Are Sinking Today – The Motley Fool

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What happened

CRISPR gene-editing stocks are being hit hard by a broader biotech sell-off on Tuesday. Shares of CRISPR Therapeutics (NASDAQ:CRSP) were down 9.1% as of 12:05 p.m. EST. Editas Medicine (NASDAQ:EDIT) stock had declined 13.7%, while Intellia Therapeutics (NASDAQ:NTLA) shares had slumped 11.4%.

There wasn't a clear reason behind today's rout of biotech stocks. The biggest negative story in the biopharmaceutical industry centered on Arcturus Therapeutics' disappointing early-stage results for its single-dose COVID-19 vaccine candidate.

Image source: Getty Images.

CRISPR Therapeutics, Editas, and Intellia tend to be more volatile than most stocks. None of the companies have products on the market yet. Their valuations are based solely on investors' optimism about their future prospects. When that optimism wanes, the stocks sink.

It's important to keep in mind, though, that nothing has actually changed about the prospects for any of these three gene-editing biotechs. In many ways, those prospects are as strong as they've ever been.

CRISPR Therapeutics and its big partner, Vertex Pharmaceuticals, reported encouraging new data earlier this month for experimental gene-editing therapy CTX001 in treating rare genetic blood disorders beta-thalassemia and sickle cell disease. Editas also announced positive preclinical data for its candidate targeting the same diseases a few weeks ago and filed for U.S. regulatory clearance to begin a phase 1 clinical study in treating sickle cell disease. Intellia presented promising preclinical data in early December for its experimental gene-editing therapies targeting acute myeloid leukemia (AML) and rare genetic disease alpha-1 antitrypsin deficiency.

Each of these stocks is falling today based on no news directly related to their businesses or pipelines. That creates a buying opportunity for investors who remain confident about each company's direction.

What really matters for these three biotechs is the clinical progress for their respective pipeline candidates. And key developments are on the way for all three companies.

CRISPR Therapeutics expects to report additional data from early-stage studies of immuno-oncology candidates CTX110, CTX120, and CTX130 in 2021. Editas hopes to begin a phase 1 study evaluating EDIT-301 in treating sickle cell disease and continue patient enrollment in a phase 1 study of EDIT-101 in treating eye disease Leber congenital amaurosis type 10 (LCA10) in the new year. Intellia anticipates submitting for regulatory clearance to begin early-stage studies of NTLA-5001 in treating AML and for NTLA-2002 in treating hereditary angioedema next year.

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DermTech Receives Positive Medical Coverage by Geisinger Health System – Business Wire

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LA JOLLA, Calif.--(BUSINESS WIRE)--DermTech, Inc. (NASDAQ: DMTK) (DermTech), a leader in precision dermatology enabled by a non-invasive skin genomics platform, announced today that Geisinger Health System (Geisinger) has issued a positive medical benefit policy for its Commercial and Medicare Business Segment for the DermTech Pigmented Lesion Assay (PLA).

DermTechs PLA is the first non-invasive gene expression test for the early detection of melanoma. The PLA has a 99% negative predictive value (NPV), meaning there is a less than 1% probability of the PLA missing a melanoma when administered properly.

Per the policy, which closely mirrors the final local coverage determination by the Medicare Administrative Contractor, Palmetto GBA MolDx: Gene expression profiling for cutaneous melanoma utilizing the Pigmented Lesion Assay RNA gene expression test on skin samples obtained via adhesive patches is considered medically necessary when the following criteria are met:

We are thrilled that Geisinger Health System, an organization with a well-known commitment to quality healthcare delivery and innovation, reviewed the clinical dossier and peer-reviewed publication library for the PLA and issued a positive medical benefit policy. Using the PLA will enhance the early detection of melanoma sparing the patient the need for an invasive biopsy, said Dan Visage, Senior Vice President of Payor Access for DermTech.

About DermTech

DermTech is the leading genomics company in dermatology and is creating a new category of medicine, precision dermatology, enabled by our non-invasive skin genomics platform. DermTechs mission is to transform dermatology with our non-invasive skin genomics platform, to democratize access to high quality dermatology care, and to improve the lives of millions. DermTech provides genomic analysis of skin samples collected non-invasively using an adhesive patch rather than a scalpel. DermTech markets and develops products that facilitate the early detection of skin cancers, and is developing products that assess inflammatory diseases and customize drug treatments. For additional information on DermTech, please visit DermTechs investor relations site at: http://www.DermTech.com.

Forward-looking Statements

This press release includes forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. The expectations, estimates, and projections of DermTech may differ from its actual results and consequently, you should not rely on these forward-looking statements as predictions of future events. Words such as expect, estimate, project, budget, forecast, anticipate, intend, plan, may, will, could, should, believes, predicts, potential, continue, and similar expressions are intended to identify such forward-looking statements. These forward-looking statements include, without limitation, expectations with respect to: the performance, patient benefits, cost-effectiveness, commercialization and adoption of DermTechs products, including the Smart Sticker platform, and the market opportunity therefor. These forward-looking statements involve significant risks and uncertainties that could cause the actual results to differ materially from the expected results. Most of these factors are outside of the control of DermTech and are difficult to predict. Factors that may cause such differences include, but are not limited to: (1) the outcome of any legal proceedings that may be instituted against DermTech; (2) DermTechs ability to obtain additional funding to develop and market its products; (3) the existence of favorable or unfavorable clinical guidelines for DermTechs tests; (4) the reimbursement of DermTechs tests by Medicare and private payors; (5) the ability of patients or healthcare providers to obtain coverage of or sufficient reimbursement for DermTechs products; (6) DermTechs ability to grow, manage growth and retain its key employees; (7) changes in applicable laws or regulations; (8) the market adoption and demand for DermTechs products and services together with the possibility that DermTech may be adversely affected by other economic, business, and/or competitive factors; and (9) other risks and uncertainties included in (x) the Risk Factors section of the most recent Quarterly Report on Form 10-Q filed by DermTech with the Securities and Exchange Commission (the SEC), and (y) other documents filed or to be filed by DermTech with the SEC. DermTech cautions that the foregoing list of factors is not exclusive. You should not place undue reliance upon any forward-looking statements, which speak only as of the date made. DermTech does not undertake or accept any obligation or undertaking to release publicly any updates or revisions to any forward-looking statements to reflect any change in its expectations or any change in events, conditions, or circumstances on which any such statement is based.

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30 Years Since the Human Genome Project Began, Whats Next? – WIRED

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In 1987, when researchers first used the word genomics to describe the newly developing discipline of mapping DNA, Eric Green had just finished medical school. A few years later, he found himself working on the front lines of the young fields marquee moon shot: the Human Genome Project. To lead the nations participation in the global effort, Congress established the National Human Genomics Research Institute, or NHGRI, in 1989.

Sequencing the entire human genome began the following year, and it took 13 years to complete. Not long after, in 2009, Green took the helm of the research institute. By then, NHGRIs mission had evolved to include expanding the field of genomics into medicine. That meant funding and coordinating projects aimed at pinpointing the mutations responsible for genetic disorders, then developing tests to diagnose them and therapies to treat them. And even more broadly, it meant generating evidence that DNA data could effectively improve outcomes, even for people who dont suffer from rare diseases.

To help chart that course, one of Greens tasks is to periodically put together a strategic vision for the field. Aimed at celebrating progress, identifying technological gaps, and inspiring scientists to pursue the most impactful areas of research, his team published its latest projection in October. For the first time, Green and his colleagues outlined a set of 10 bold predictions about what might be realized in human genomics by the year 2030. Among them: High schoolers will show off genetic analyses at the science fair, and genomic testing at the doctors office will become as routine as basic blood work.

Three decades after that sequencing race began, weve perhaps reached the end of the early genomics era, a period of explosive technological growth that led to breakthroughs like the sequencing of the first dog, chicken, and cancer cells and the advent of cheap home DNA tests. The field has matured to the point that genomics is nearly ubiquitous in all of biologyfrom fighting invasive giant hornets to brewing better-tasting beer. Genomic medicine is no longer theoretical. But its also not widespread. Although scientists have mapped the human genome, they do not yet completely understand it. Green spoke to WIRED about what the next decade, and the next era in genomics, may have in store. This interview has been edited for length and clarity.

WIRED: October marked the 30th anniversary of the Human Genome Project. When you look around at where we are today, how does it live up to the expectations you had for the impacts the project would make in medicine?

Eric Green: I was inside the Human Genome Project from day one, and I cant stress enough how back then we didnt know what we were doing. We had this big audacious goal of reading out the 3 billion letters of the human instruction book, but we didnt have the technology to do it. We didnt have the methods. We didnt even have a functional internet. There was no playbook. So, as someone who got into this as a young physician, I could sort of imagine that one day genomics might be part of clinical care. But I truly did not think it would happen in my lifetime.

If we go back just 10 years, nobody was really using genomics in health care. We fantasized then about the idea of having a patient in front of us, where we did not know what was wrong with them, and being able to sequence their genome and figure it out. That was a hypothetical in 2011. Now it's routine. At least for people suspected of having a rare genetic disease.

Thats amazing. But also, its still a far cry from some of the hype around what the Human Genome Project was going to accomplish. In his remarks at the White House in 2000, then-NHGRI director Francis Collins said it would likely take 15 or 20 years to see a complete transformation in therapeutic medicine, promising personalized treatments for everything from cancer to mental illness. Obviously, that hasnt exactly come to pass. Why not?

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Identification of Core Genes Involved in the Metastasis of Clear Cell | CMAR – Dove Medical Press

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Rui Peng,1,* Yahui Wang,2,* Likai Mao,3 Fang Fang,4 Han Guan1

1Department of Urology, First Affiliated Hospital of Bengbu Medical College, Bengbu, Peoples Republic of China; 2Department of Urology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Shenshan Central Hospital, Shanwei, Peoples Republic of China; 3Department of Urology, Second Affiliated Hospital of Bengbu Medical College, Bengbu, Peoples Republic of China; 4Department of Immunology, School of Laboratory Medicine, Anhui Provincial Key Laboratory of Infection and Immunity, Bengbu Medical College, Bengbu, Peoples Republic of China

*These authors contributed equally to this work

Correspondence: Han GuanDepartment of Urology, First Affiliated Hospital of Bengbu Medical College, No. 87 Zhihuai Road, Longzhihu District, Bengbu, Anhui 233000, Peoples Republic of ChinaTel +86 138 5522 8689Email gh668689@126.com

Introduction: Renal cell carcinoma (RCC) is one of the most common malignancies globally, among which clear cell carcinoma (ccRCC) accounts for 85 90% of all pathological types. This study aims to screen out potential genes in metastatic ccRCC so as to provide novel insights for ccRCC treatment.Methods: GSE53757 and GSE84546 datasets in the Gene Expression Omnibus (GEO) were profiled to identify differentially expressed genes (DEGs) from ccRCC samples with or without metastasis. The Kyoto Encyclopedia of Genes and Genomes (KEGG) and the gene ontology (GO) analysis were performed to analyze pathway enrichment and functional annotation of DEGs. Proteinprotein interaction (PPI) network was constructed, and survival analysis was conducted to evaluate the clinical values of the identified hub genes. In vitro loss-of-function assays were performed to explore the biological roles of these genes.Results: The bioinformatic analysis indicated that 312 DEGs were identified, including 148 upregulated genes and 164 downregulated ones. Using PPI and Cytoscape, 10 hub genes were selected (C3, CXCR4, CCl4, ACKR3, KIF20A, CCNB2, CDCA8, CCL28, S1PR5, and CCL20) from DEGs which might be closely related with ccRCC metastasis. In KaplanMeier analysis, three potential prognostic biomarkers (KIF20A, CCNB2 and CDCA8) were identified. Finally, cell proliferative and invasive assays further verified that KIF20A, CCNB2 and CDCA8 were associated with the proliferation and invasion of ccRCC cells.Conclusion: Our results demonstrated that metastatic ccRCC was partially attributed to the aberrant expression of KIF20A, CCNB2 and CDCA8, and more personalized therapeutic approaches should be explored targeting these hub genes.

Keywords: clear cell renal cell carcinoma, hub genes, biomarkers, metastasis, differentially expressed gene

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Taysha Gene Therapies Expands Leadership Team to Deepen Manufacturing and Communications Capabilities – Business Wire

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DALLAS--(BUSINESS WIRE)--Taysha Gene Therapies, Inc. (Nasdaq: TSHA), a patient-centric gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system in both rare and large patient populations, today announced new additions to its leadership team with the appointments of Greg Gara as Senior Vice President of Manufacturing and Kimberly Lee, D.O., as Senior Vice President of Corporate Communications and Investor Relations.

We are excited to welcome Greg and Kim to Tayshas leadership team, said RA Session II, President, Founder and CEO of Taysha. They each bring significant domain experience and their contributions will be invaluable as we continue our mission of eradicating monogenic CNS diseases. Gregs technical expertise in AAV gene therapy manufacturing along with his proven success in constructing several cGMP gene therapy facilities and Kims deep experience across capital markets and corporate communications will add tremendous value to the team. Importantly, both share our unrelenting, patient-first focus and passion for bringing new cures to life.

Mr. Gara has over 25 years of experience in designing, constructing, and starting up large- and small-scale manufacturing facilities for biotechnology companies globally. Prior to joining Taysha, he served as Vice President of Pharmaceutical Engineering at Sarepta, where he led and managed manufacturing operations for all gene therapy products. Before Sarepta, he served as Vice President of Technical Operations and Engineering at AveXis, a Novartis company, where he led the design, construction, and startup of the Libertyville facility and the new facilities in Research Triangle Park and Colorado. Mr. Gara also led the team for the facility expansion in North Carolina and the renovation of the Colorado site. Prior to AveXis, he led the facilities and engineering organization at Hospira prior to the companys acquisition by Pfizer. Before joining Hospira, he spent 15 years at Amgen, holding positions of increasing responsibility, and was part of the Cork, Ireland, construction project. Mr. Gara received a B.A. in Biology and Environmental Science from Augustana College.

Tayshas dedication to the development and commercialization of potentially transformative gene therapy treatments and its innovative and pioneering spirit is truly inspiring and I am excited to contribute in a meaningful way, said Mr. Gara. I look forward to playing an instrumental role in the companys growth and expansion of its manufacturing capabilities.

Dr. Lee joins Taysha with over 20 years of capital markets, strategic corporate finance, and communications experience from prior roles as a biotech equity research analyst on Wall Street and corporate strategy, communications, and investor relations professional. She most recently served as Head of Corporate Strategy and Investor Relations at Lexicon Pharmaceuticals and previously as Vice President of Corporate Strategy, Corporate Communications and Investor Relations at Raptor Pharmaceuticals until its acquisition by Horizon Pharma. Prior to joining Raptor, Dr. Lee was a biotechnology sell-side analyst at investment banks, including Jefferies and Wedbush Securities, covering biotechnology companies across all market capitalizations, multiple therapeutic areas, and modalities. Dr. Lee received a B.S. in Biological Sciences from Stanford University and a D.O. from Kirksville College of Osteopathic Medicine.

In less than one year, Taysha has made extraordinary progress in developing and funding its elegant platform and rapidly advancing its product candidates for the betterment of patients and I am thrilled and grateful to be a part of this journey, said Dr. Lee. I am eager to learn from and work alongside this team of gene therapy experts at this exciting stage of our companys lifecycle and I look forward to making lasting contributions.

About Taysha Gene Therapies

Taysha Gene Therapies (Nasdaq: TSHA) is on a mission to eradicate monogenic CNS disease. With a singular focus on developing curative medicines, we aim to rapidly translate our treatments from bench to bedside. We have combined our teams proven experience in gene therapy drug development and commercialization with the world-class UT Southwestern Gene Therapy Program to build an extensive, AAV gene therapy pipeline focused on both rare and large-market indications. Together, we leverage our fully integrated platforman engine for potential new cureswith a goal of dramatically improving patients lives. More information is available at http://www.tayshagtx.com.

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Uncovering Key Molecule that Drives Production of Cells Critical to Allergic Reactions – Michigan Medicine

Posted: at 4:56 pm

Recent allergy research has focused on a family of cells in the immune system proven to play a critical role in allergic responses.

Known as innate lymphoid cells, or ILCs, they can kill or regulate various cell types to fight pathogens and protect against infections but at the same time may exacerbate allergies by over-responding and causing inflammation.

Now, researchers have discovered a protein in the bone marrow that drives production of these influential immune cells, according to findings led by the Mary H. Weiser Food Allergy Center at Michigan Medicine that appears in Science Immunology.

We have identified a regulatory molecule that controls the production of cells that are critical to mediating allergic responses, says lead author Chang Kim, Ph.D., Michigan Medicine pathologist and researcher with the allergy center.

A better understanding of how these cells are made and regulated brings us closer to a novel target to treat inflammatory and allergic diseases through new therapies in the future.

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Researchers found that this protein (BATF) regulates the gene expression required for the differentiation of the ILCs immune cells in the bone marrow.

ILCs are counterparts to T-cells that contribute to immune responses. In addition to their role in allergy responses, ILCs protect from diverse pathogens such as bacteria, viruses and parasites like tapeworms. They also help regulate fat mass, metabolism and microbiome.

The study found that animals deficient in the expression of BATF are highly susceptible to infection and are unable to mount an effective immune response to allergy-inducing cytokines.

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Animals deficient in this molecule are protected from allergic responses, Kim says. This tells us that our research may provide useful information regarding mechanisms of allergic immune responses.

Kims lab continues research on the molecular details in the regulation of ILC production that may lead to novel targets of intervention.

Study cited: BATF regulates innate lymphoid cell hematopoiesis and homeostasis, Science Immunology, DOI: 10.1126/sciimmunol.aaz8154

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Evolution may be to blame for humans susceptibility to a certain cancer – News24

Posted: at 4:56 pm

Humans seem to be more prone to developing carcinomas (cancers starting in the skin or tissue lining organs), in comparison to our closest evolutionary relatives chimpanzees.

We are prone to developing advanced carcinomas even without known risk factors such as smoking and genetic predisposition being present.

Researchers at the University of California School of Medicine and Moores Cancer Center conducted a study aimed at explaining why this may be the case.

Findings of the study suggest that distinct genetic mutations that happened during the course of our evolution may be part of the reason why we are prone to developing these cancers.

SIGLEC 12 is a primate protein-coding gene that harbours specific mutations in humans.

According to senior author of the study, Ajit Varki, At some point during human evolution, the SIGLEC12 gene and more specifically, the Siglec-12 protein it produces as part of the immune system suffered a mutation that eliminated its ability to distinguish between 'self' and invading microbes, so the body needed to get rid of it.

He went on to say the gene is not completely gone from the body and it appears that this dysfunctional form of the Siglec-12 protein went rogue and has now become a liability for the minority of people who still produce it.

When the researchers studied normal tissues and compared them to cancer tissues, they found that the risk of developing advanced cancer was more than double in people who produce a SIGLEC-12 compared to those who don't.

The majority of the global population no longer produce the SIGLEC-12 protein because dysfunctional encoded proteins are normally erased over time, and the protein is only functional in chimpanzees.

It was believed that the gene had no relevance in cases where it was still present in humans, but the researchers found that it is in fact significant because of its prevalence in the majority of advanced cancer samples.

"These results suggest that the minority of individuals who can still make the protein are at much greater risk of having an advanced cancer," said corresponding author, Nissi Varki.

The researchers went on to say that such a discovery is beneficial as it can be used in future for diagnostics and treatments, and the team already made progress by developing a urine test that can detect the presence of the dysfunctional protein.

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