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One of the World’s Greatest Geneticists, He Gave Up British Citizenship for India – The Better India
Posted: November 14, 2019 at 2:44 pm
As the legendary science fiction author Arthur C Clarke once suggested, JBS Haldane was perhaps the most brilliant science popularizer of his generation. #LostTales
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JBS Haldane ranks among the greatest scientists of the 20th century, particularly for his invaluable contribution to our understanding of genetics. More fascinatingly, however, this remarkable polymath left his home country of the United Kingdom in 1957 and moved to India permanently. He took up residence and Indian citizenship with his wife Helen Spurway, a gifted biologist in her own right.
Never before in the 20th century had a scientist of his standing chosen to take his scientific research to India from the Westnot to mention becoming a citizen.
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Born on 5 November 1892, in Oxford, England, JBS grew up in privilege with his father John Scotee Haldane, an Oxford University physiologist. JBS was a child prodigy, learning how to read and acquiring a certain degree of familiarity with scientific terminology by the tender age of three. The influence of John Scott loomed large on his son with the duo acting as their own guinea pigs in various experiments, including ascertaining the physiological effects of poison gases.
But the turning point for JBS came when his father took him to a lecture by A D Darbishire, a British zoologist and geneticist, about legendary scientist Gregor Mendels laws of inheritance, dominance and segregation. The lecture facilitated his fascination with genetics.
JBS studied at Eton, an elite boys school, and subsequently at Oxford University, where he pursued the Classics and Mathematics, graduating with honours in 1914. However, his academic pursuits were brought to a halt by World War I. Commissioned to the British Army, he served in France and Iraq, where he was wounded.
Following the War, he came back to Oxford to pursue his research in genetics.
His most important genetical contributions were a series of mathematical papers on the effect of natural selection, which were summarized in his book, The Causes of Evolution. This work became the foundation for population genetics along with the works of R.A. Fisher and Sewall Wright. Haldane [also] introduced the important idea that immunity to infectious diseases played an important part in human evolutionHe emphasized the importance of ethical considerations in evaluating eugenic programs and the impact of in vitro fertilization, writes Krishna R Dronamraju, a colleague of JBS, for the Indian Journal of Human Genetics.
In many ways, JBS played a critical role in laying the foundation of classical human genetics.
He derived the law of steady-state kinetics in enzyme chemistry, besides ascertaining the physiological effects of carbon dioxide and carbon monoxide by testing them out on his own body, a method he learnt from his father.
After a four-year stint as a Professor of Genetics at the University College in London, he spent the next twenty as the Professor of Biometry. As a professed socialist and humanist, JBS was also deeply engaged in popularising the science to the masses beyond the laboratory.
As the legendary author Arthur C Clarke once suggested, JBS Haldane was perhaps the most brilliant science popularizer of his generation.
However, towards the fag end of his time in England, he grew increasingly disenchanted by British politics and society. The breaking point was his governments role in the Suez Crisis of 1956, which he saw as violations of international law, while admiring the Indian Independence Movement. Moreover, the warmer climate of India and Prime Minister Nehrus experiments with socialism also offered JBS and wife Helen with the necessary rationale for shifting base.
It was the legendary statistician P C Mahalanobis, who offered JBS a teaching position in the Indian Statistical Institute, Kolkata. At this time, he also began immersing himself in Indian philosophy and logic systems, applying indigenous knowledge systems to scientific research.
He continued his work in the study of genetics in India, ranging from studies about inbreeding in Andhra Pradesh, and colour blindness in Andhra and Odisha, apart from other such studies.
Never before in modern times had a Western scientist of Haldanes calibre chosen to move to India not to speak of becoming a citizen. He was critical of Indian science and scientists but saw hopes in young people. During his stay here, he did much for research in animal and human genetics and in support of science education, writes Dr Veena Rao, a faculty member at the National Institute of Advanced Sciences. Science, he believed, must help common citizens understand what goes on inside the research laboratories, for some of which he pays, writes Dr Veena Rao, Adjunct Faculty at the National Institute of Advanced Studies, for The Hindu.
He also criticised the bureaucratic roadblocks that stifled true research in India. There was even a dust-up between him and the management at the ISI, which led to his resignation and the eventual shift to Bhubaneswar, Odisha, on the invitation of Biju Patnaik.
Haldane was appointed [the] head of an entirely independent research establishment, where he worked with his young colleagues from Calcutta, including S D Jayakar, with whom he published papers on population genetics that are as enduring as the best of Haldanes early work, says this Down to Earth profile.
Whats particularly remarkable about his life is how quickly people forgot him. More than anything else, however, he passed on to his students and peers a passion for the sciences.
Also Read:This is Your Prize, Sir. How a Pak Nobel Laureate Paid Tribute to His Indian Guru
Just before passing away on 1 December 1964 of rectal carcinoma, he issued strict instructions that he wanted to dedicate his body to scientific researchthe mark of a true scientist.
Our only hope of understanding the universe is to look at it from as many different points of view as possibleNow, my own suspicion is that the universe is not only queerer than we suppose, but queerer than we can suppose, he wrote.
(Edited by Shruti Singhal)
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Alector Reports Recent Business Highlights and Third Quarter 2019 Financial Results – Yahoo Finance
Posted: at 2:44 pm
SOUTH SAN FRANCISCO, Calif., Nov. 12, 2019 (GLOBE NEWSWIRE) -- Alector, Inc. (ALEC), a clinical stage biotechnology company pioneering immuno-neurology, today announced Company highlights and financial results for the third quarter of 2019.
We continue to integrate insight from human genetics, immunology, and neuroscience to advance our portfolio of novel therapeutics. AL001 has advanced to a Phase 2 trial in two genetically defined patient populations suffering from frontotemporal dementia. In addition, AL002 and AL003 are currently being evaluated in Phase 1b clinical trials in Alzheimers disease patients, said Arnon Rosenthal, Ph.D., Alectors chief executive officer. We are looking forward to our first presentation of data from the AL002 program taking place at the CTAD annual meeting and an update on our clinical and development pipelines at our R&D Day in December.
Recent Business Highlights
Third Quarter 2019 Financial Results
Revenue. Collaboration revenue for the third quarter of 2019 was $2.7 million compared to $6.5 million for the same period in 2018. Alector recognizes revenue from the upfront payments under the AbbVie Agreement over time as the services are provided. Revenues are recognized as the program costs are incurred by measuring actual costs incurred to date compared to the overall total expected costs to satisfy the performance obligation. Changes in estimates for revenue recognized over time are recognized on a cumulative basis.
R&D Expenses. Total research and development expenses for the third quarter of 2019 were $28.5 million compared to $20.4 million for the same period in 2018. The increase was driven by higher personnel-related expenses as headcount grew to support the advancement of the clinical and preclinical programs, increased expenditures related to the clinical trials, increased laboratory expenses for the development of our pipeline, and increased facilities and other unallocated research and development expenses to support the growth of the business.
G&A Expenses. Total general and administrative expenses for the third quarter of 2019 were $8.3 million compared to $2.9 million for the same period in 2018. This increase was primarily due to higher personnel-related expenses, increased facilities and general overhead expenses, and increased expenses related to information technology, accounting, legal, human resources, and other administrative functions to support the growth of the business.
Net Loss. For the third quarter of 2019, Alector reported a net loss of $31.7 million, compared to a net loss of $15.3 million for the same period in 2018.
Cash Position. Cash, cash equivalents, and marketable securities were $381.4 million as of September 30, 2019.
About AlectorAlector is a clinical stage biotechnology company pioneering immuno-neurology, a novel therapeutic approach for the treatment of neurodegenerative diseases. Immuno-neurology targets immune dysfunction as a root cause of multiple pathologies that are drivers of degenerative brain disorders. Alector is developing a broad portfolio of programs designed to functionally repair genetic mutations that cause dysfunction of the brains immune system and enable the rejuvenated immune cells to counteract emerging brain pathologies. The Companys product candidates are supported by biomarkers and target genetically defined patient populations in frontotemporal dementia and Alzheimers disease. Alector is headquartered in South San Francisco, California. For additional information, please visit http://www.alector.com.
Cautionary Note Regarding Forward-Looking Statements
This press release contains forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Such forward-looking statements are based on our beliefs and assumptions and on information currently available to us on the date of this press release. Forward-looking statements may involve known and unknown risks, uncertainties and other factors that may cause our actual results, performance or achievements to be materially different from those expressed or implied by the forward-looking statements. These statements include but are not limited to statements regarding the Companys financial condition and results of operations, and plans for the Companys product candidates, clinical studies and anticipated regulatory and development milestones. Except as required by law, we assume no obligation to update these forward-looking statements publicly, or to update the reasons actual results could differ materially from those anticipated in the forward-looking statements, even if new information becomes available in the future. Important factors that could cause our actual results to differ materially are detailed from time to time in the reports Alector files with the Securities and Exchange Commission, including in our quarterly report on Form 10-Q that is being filed with the Securities and Exchange Commission (SEC). Copies of reports filed with the SEC are posted on Alectors website and are available from Alector without charge.
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Selected Consolidated Balance Sheet Data (in thousands)(unaudited)
(1) Upon the closing of our IPO in February 2019, all of the outstanding shares of our convertible preferred stock converted into 45,374,836 shares of common stock.
Consolidated Statement of Operations Data(in thousands, except share and per share data)(unaudited)
Source: Alector, Inc.
Contacts
Media:1ABDan Budwick, 973-271-6085dan@1abmedia.com
orInvestors:Alector, Inc.ir@alector.com
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Dwindling tropical rainforests mean lost medicines yet to be discovered in their plants – The Advocate
Posted: at 2:44 pm
Walter Suza, Iowa State University
(The Conversation is an independent and nonprofit source of news, analysis and commentary from academic experts.)
Walter Suza, Iowa State University
(THE CONVERSATION) Growing up in Tanzania, I knew that fruit trees were useful. Climbing a mango tree to pick a fruit was a common thing to do when I was hungry, even though at times there were unintended consequences. My failure to resist consuming unripened fruit, for example, caused my stomach to hurt. With such incidents becoming frequent, it was helpful to learn from my mother that consuming the leaves of a particular plant helped alleviate my stomach pain.
This lesson helped me appreciate the medicinal value of plants. However, I also witnessed my family and neighboring farmers clearing the land by slashing and burning unwanted trees and shrubs, seemingly unaware of their medicinal value, to create space for food crops.
But this lack of appreciation for the medicinal value of plants extends beyond my childhood community. As fires continue to burn in the Amazon and land is cleared for agriculture, most of the concerns have focused on the drop in global oxygen production if swaths of the forests disappear. But Im also worried about the loss of potential medicines that are plentiful in forests and have not yet been discovered. Plants and humans also share many genes, so it may be possible to test various medicines in plants, providing a new strategy for drug testing.
As a plant physiologist, I am interested in plant biodiversity because of the potential to develop more resilient and nutritious crops. I am also interested in plant biodiversity because of its contribution to human health. About 80% of the world population relies on compounds derived from plants for medicinesto treat various ailments, such as malaria and cancer, and to suppress pain.
Future medicines may come from plants
One of the greatest challenges in fighting diseases is the emergence of drug resistance that renders treatment ineffective. Physicians have observed drug resistance in the fight against malaria, cancer, tuberculosis and fungal infections. It is likely that drug resistance will emerge with other diseases, forcing researchers to find new medicines.
Plants are a rich source of new and diverse compounds that may prove to have medicinal properties or serve as building blocks for new drugs. And, as tropical rainforests are the largest reservoir of diverse species of plants, preserving biodiversity in tropical forests is important to ensure the supply of medicines of the future.
Plants and new cholesterol-lowering medicines
The goal of my own research is to understand how plants control the production of biochemical compounds called sterols. Humans produce one sterol, called cholesterol, which has functions including formation of testosterone and progesterone - hormones essential for normal body function. By contrast, plants produce a diverse array of sterols, including sitosterol, stigmasterol, campesterol, and cholesterol. These sterols are used for plant growth and defense against stress but also serve as precursors to medicinal compounds such as those found in the Indian Ayurvedic medicinal plant, ashwagandha.
Humans produce cholesterol through a string of genes, and some of these genes produce proteins that are the target of medicines for treating high cholesterol. Plants also use this collection of genes to make their sterols. In fact, the sterol production systems in plants and humans are so similar that medicines used to treat high cholesterol in people also block sterol production in plant cells.
I am fascinated by the similarities between how humans and plants manufacture sterols, because identifying new medicines that block sterol production in plants might lead to medicines to treat high cholesterol in humans.
New medicines for chronic and pandemic diseases
An example of a gene with medical implications that is present in both plants and humans is NPC1, which controls the transport of cholesterol. However, the protein made by the NPC1 gene is also the doorway through which the Ebola virus infects cells. Since plants contain NPC1 genes, they represent potential systems for developing and testing new medicines to block Ebola.
This will involve identifying new chemical compounds that interfere with plant NPC1. This can be done by extracting chemical compounds from plants and testing whether they can effectively prevent the Ebola virus from infecting cells.
There are many conditions that might benefit from plant research, including high cholesterol, cancer and even infectious diseases such as Ebola, all of which have significant global impact. To treat high cholesterol, medicines called statins are used. Statins may also help to fight cancer. However, not all patients tolerate statins, which means that alternative therapies must be developed.
Tropical rainforests are medicine reservoirs
The need for new medicines to combat heart disease and cancer is dire. A rich and diverse source of chemicals can be found in natural plant products. With knowledge of genes and enzymes that make medicinal compounds in native plant species, scientists can apply genetic engineering approaches to increase their production in a sustainable manner.
Tropical rainforests house vast biodiversity of plants, but this diversity faces significant threat from human activity.
To help students in my genetics and biotechnology class appreciate the value of plants in medical research, I refer to findings from my research on plant sterols. My goal is to help them recognize that many cellular processes are similar between plants and humans. My hope is that, by learning that plants and animals share similar genes and metabolic pathways with health implications, my students will value plants as a source of medicines and become advocates for preservation of plant biodiversity.
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This article is republished from The Conversation under a Creative Commons license. Read the original article here: http://theconversation.com/dwindling-tropical-rainforests-mean-lost-medicines-yet-to-be-discovered-in-their-plants-126578.
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Applied Therapeutics Reports Third Quarter 2019 Financial Results – GlobeNewswire
Posted: at 2:44 pm
NEW YORK, Nov. 13, 2019 (GLOBE NEWSWIRE) -- Applied Therapeutics, Inc. (Nasdaq: APLT), a clinical-stage biopharmaceutical company developing novel drug candidates in indications of high unmet medical need, today reported financial results for the third quarter ended September 30, 2019.
The third quarter was a critical period of progress at Applied, and we are extremely pleased to have met all of our objectives, said Shoshana Shendelman, PhD, Founder, Chief Executive Officer and Chair of the Board of Applied Therapeutics. We are now in the final phase of development on both of our lead programs, having initiated our Phase 3 registrational study of AT-001 in Diabetic Cardiomyopathy (ARISE-HF) and transitioned into the Phase 2 portion of our Galactosemia trial (ACTION-Galactosemia) in the third quarter. We continue to maintain our momentum and remain on track to report pivotal data on our Galactosemia program by year end. Recently, we had an opportunity to broaden our shareholder base and strengthen the balance sheet through a private placement, providing us with additional cash runway as we move beyond development and into commercialization of our lead assets.
Recent Highlights
Financial Results
About Applied Therapeutics Inc.
Applied Therapeutics is a clinical-stage biopharmaceutical company developing a pipeline of novel drug candidates against validated molecular targets in indications of high unmet medical need. The companys lead drug candidate, AT-001, is a novel aldose reductase inhibitor (ARI) that is being developed for the treatment of Diabetic Cardiomyopathy, or DbCM, a fatal fibrosis of the heart. The company initiated a Phase 3 registrational study in DbCM in September 2019. Applied Therapeutics is also developing AT-007, a central nervous system penetrant ARI, for the treatment of Galactosemia, a rare pediatric metabolic disease, and initiated a Phase 1/2 clinical trial in June 2019. The preclinical pipeline also includes AT-003, an ARI designed to cross through the back of the eye when dosed orally, for the treatment of diabetic retinopathy, expected to advance into a Phase 1 study in 2020.
Forward-Looking Statements
This press release contains forward-looking statements that involve substantial risks and uncertainties for purposes of the safe harbor provided by the Private Securities Litigation Reform Act of 1995. Any statements, other than statements of historical fact, included in this press release regarding strategy, future operations, prospects, plans and objectives of management, including words such as "may," "will," "expect," "anticipate," "plan," "intend," and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) are forward-looking statements. These include, without limitation, statements regarding (i) the design, scope and results of our clinical trials, (ii) the timing of the initiation and completion of our clinical trials, (iii) the likelihood that data from our clinical trials will support future development of our product candidates, (iv) the likelihood of obtaining regulatory approval of our product candidates and qualifying for any special designations, such as orphan drug designation, (v) our cash runway and the timing of our clinical development plan. Forward-looking statements in this release involve substantial risks and uncertainties that could cause actual results to differ materially from those expressed or implied by the forward-looking statements, and we, therefore cannot assure you that our plans, intentions, expectations or strategies will be attained or achieved. Such risks and uncertainties include, without limitation, the uncertainties inherent in the initiation, execution and completion of clinical trials, in the timing of availability of trial data, in the results of the clinical trials, in the actions of regulatory agencies, in the commercialization and acceptance of new therapies. Factors that may cause actual results to differ from those expressed or implied in the forward-looking statements in this press release are discussed in our filings with the U.S. Securities and Exchange Commission, including the Risk Factors contained therein. Except as otherwise required by law, we disclaim any intention or obligation to update or revise any forward-looking statements, which speak only as of the date they were made, whether as a result of new information, future events or circumstances or otherwise.
Investors:Maeve Conneighton(212) 600-1902 orappliedtherapeutics@argotpartners.com
Media:media@appliedtherapeutics.com
Applied Therapeutics, Inc.Statement of Operations
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Ancient Rome: a 12,000-year history of genetic flux, migrations and diversity – HeritageDaily
Posted: at 2:43 pm
The study, published on the ancient DNA of individuals from Rome and adjacent regions in Italy, spanning the last 12,000 years.
Those genetic data reveal at least two major migrations into Rome, as well as several smaller but significant population shifts over just the last few thousand years.
Notably, DNA analysis revealed that as the Roman Empire expanded around the Mediterranean Sea, immigrants from the Near East, Europe, and North Africa migrated to Rome, significantly changing the face of one of the ancient worlds first great cities.
We did not expect to detect such an extensive genetic diversity already at the time of the origins of Rome, with individuals with ancestries from North Africa, the Near East, and the European Mediterranean regions, says Ron Pinhasi, an associate professor of evolutionary anthropology at the University of Vienna and one of the papers senior authors along with Jonathan Pritchard, a professor of genetics and of biology and Alfredo Coppa professor of Physical Anthropology at Sapienza University in Rome, that together with Luca Bondioli, of the Museum of Civilizations of Rome, Mauro Rubini, of the Archaeological Superintendence of Lazio, and other anthropologists, conducted the sampling of the examined skeletons. For the first time a study of this magnitude is conducted on a great classical civilization and is focused on Rome the capital of one of the greatest empires of Antiquity declares Alfredo Coppa.
Genetic contact
Rome presented an interesting opportunity to use the same ancient DNA techniques the team used in the last decade to fill in details left out of the historical record, Pritchard said. The historical and archaeological records tell us a great deal about political history and contacts of different kinds with different places trade and slavery, for example but those records provide limited information about the genetic makeup of the population. Ancient DNA data provides a new source of information which is linked really well to social history of individuals from Rome at different ages, says Ron Pinhasi. Alfredo Coppa adds, In our study, we used the collaboration and support of a large number of archaeologists, who opened their archives to us, and allowed us to better understand what genetic data was highlighting.
To find out what that makeup looked like, the Stanford team partnered with their collaborators in Rome and Vienna to gather 127 human DNA samples from 29 sites in and around Rome dating from between the Stone Age and medieval times. An analysis of some of the earliest samples more or less comport with what has been found around Europe an influx of farmers primarily descended from early agriculturalists from Turkey and Iran around 8,000 years ago, followed by a shift toward ancestry from the Ukrainian Steppe somewhere between 5,000 and 3,000 years ago. By the founding of Rome, traditionally dated to 753 BCE, the citys population had grown in diversity and resembled modern European and Mediterranean peoples.
Republic, Empire and beyond
But for the authors, the most interesting parts were yet to come. Although Rome began as a humble city-state, within 800 years it had gained control over an Empire extending as far west as Britain, south into North Africa and east into Syria, Jordan and Iraq.
As the empire expanded, it facilitated the movement and interaction of people through trade networks, new road infrastructure, military campaigns, and slavery. Contemporary accounts and archaeological evidence support tight connections between Rome and all other parts of the empire in fact, the daily life of Rome relied heavily on trade goods from other parts of the empire to supply its enormous urban center.
The researchers found that the genetic corroborates but also complicates the historical record. There was a massive shift in Roman residents ancestry, but that ancestry came primarily from the Eastern Mediterranean and Near East, possibly because of denser populations there relative to the Roman Empires western reaches in Europe and Africa.
The next several centuries were full of turmoil: the capitals move to Constantinople and subsequent split of the Empire, disease outbreaks that decimated the population of Rome and a series of invasions, including the Visigoths sacking of Rome in 410 CE, when, as Saint Jerome put it, the bright light of all the world was put out. These events left their mark on the citys ancestry, which shifted away from eastern Mediterranean and toward western European. Similarly, the rise and reign of the Holy Roman Empire brought an influx of central and northern European ancestry.
Migration is nothing new
The study shows that the ancient world was perpetually in flux, both in terms of culture and ancestry.
It was surprising to us how rapidly the population ancestry shifted, over timescales of just a few centuries, reflecting Romes shifting political alliances over time Pritchard said.
Another striking aspect was how cosmopolitan the population of Rome was, starting more than 2000 years ago and continuing through the rise and dissolution of the empire. Even in antiquity, Rome was a melting pot of different cultures.
We now need to think about new studies which look at the interaction between people of different social classes across the Roman Empire, including not only the movements of particular groups from different regions, but also of social mobility in both core regions, and the various provinces says Ron Pinhasi.
In addition to better analyzing relations with the pre-Roman peoples of central-southern Italy adds Alfredo Coppa.
UNIVERSITY OF VIENNA
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For $500, This Company Will Tell You How Well You’re Aging – Outside
Posted: at 2:43 pm
Is 50 the new 30? Or is 30 the new 50?
A New York Citybased biotech company, Elysium Health,believes it can help you figure that out with unprecedented levels of accuracy using a simple, though spendy ($500)at-home saliva test called Index. You spit in a vial, send the sample back to Elysium, wait four to sixweeks for processing, andvoil!receive a report indicating whether your biological age is younger, older, or the same as your chronological age.
Chronological age is, of course, all those trips youve made around the sun. Biological age, on the other hand, is how well youve held up during those tripsa measure of your physiological health. Scientists have been trying to determine biological age for at least 50 years, using various biomarkers (like cholesterol, blood glucose, skin elasticity, and vascular function, to name a few) and mathematical modeling. Only recently have researchers started using our DNA to evaluate age.
ElysiumsIndex calculates your biological age by looking at DNA methylation (DNAm), which is one of the ways genes are turned on or off. Methylation occurs when methyl groupsclusters of hydrogen atoms surrounding a carbon atomattach to the DNA and prevent their expression. Some patterns of methylation are inherited and occur naturally with age, but others are triggered by environment and lifestyle factors, like smoking, stress, exercise, and exposure to chemicals. DNAm isnt the only way genes may be modified, but it is the most common and has become an important player in the broader field of epigenetics, the science of gene expression. Epigenetic researchershave found that DNAm profiles correspond remarkably well with age-related biomarkers. So a researcher looking at a blind DNAm profile sample could conclude that it represents someone who is 50 years oldalthough the actual subject might be 40or 60.
Index came from asking two questions, says Elysium CEO Eric Marcotulli. First, can you measure aging itself?And second, what is the most accurate way to do that?
The answer to that first question appears to be yes, and the science behind it gained a lot of ground in 2011, with the creation of the epigenetic clock. That clockwas actually a formula for calculating age based on cellular health using DNAmdata, which was then correlated with large data sets like the National Health and Nutrition Examination Survey, the largest study ever conducted on population health. By comparing new DNAm samples with established patterns drawn from large studies,scientistscould estimate biological age, give or take a few years.
To answer the second questionhow to measure biological age with enough accuracy to be relevant for individualsMarcotulli tapped Morgan Levine, an assistant professor of pathology at Yale and a rising star in the field of aging research, to lead the Index project for Elysium. As a postdoc at UCLA, Levine worked with Steven Horvath, a human-genetics and biostatistics professor largely credited with creating the first epigenetic clock. With Horvaths help, Levine developed a more advanced version of the epigenetic clock. Where early versions gathered data from a few hundred DNAm sites on the genome, Levines was able to read data from 100,000 sites (Elysium is heralding this as revolutionary), allowing them to more reliably and consistently pinpoint biological age, along with your cumulative rate of agingthat is, how fast you are getting old.
Levine says she has put Index to the test herself, but her initial results werent as good as shed hoped, eventhough shes a lifelong runner with a pretty healthy lifestyle.Shebelieved she could score betterand decided to add high-intensity and strength training to her workout regimen. When she retested six months later, her biological age had improved. Strength and high-intensity training is one thing I thought might make a difference, she says. Thats not a scientific study, because its nof one, but in my own life, I want to figure out how to take control of aging and stay physically functioning for as long as possible.
Currently, Index only offers basic information on biological agea kind of overall health score. But future editions, says Levine, will be able to highlight different biological systems, where you may want to apply more effort toward improvement, like certain types of exercise or diet. Traditional health caremay only flag a health issue once it becomes a problem, like the onset of disease. Levine says Index may help people get a jump on health issues before they occur.
Its hard not to approacha new biotech product making grandiose claims with a large beaker of skepticism. The field is swamped with hucksters and marketing hype, forever stigmatized by megascandals like that of Theranos, the infamous biotech company that falsely claimed it could conduct advanced blood tests with tiny samples. Elysium insists its bringing new standards of scientific rigor and legitimacy to the marketplace, but theres reason for pause.
To date, Elysium has released just one other product: Basis, a supplement that increasesNAD+, a molecule essential for cellular health that diminishes with age. Basis was developed by MIT heavyweight Leonard Guarente, an Elysium cofounder. Since its release in early 2015, Basis (which costs$50 a month) has received mixed reviews from consumers, who have reported everything from renewed energy to side effects like sleeplessness and body aches. Elysium has conducted several double-blind, placebo-controlled clinical trialsthe gold standardand shown that the supplements raise NAD+ as much as 40 percent. But molecular science is exceedingly complex, and the notion that a single supplement will provide miraculous anti-aging benefits is itself a large pill to swallow. Its worth noting that neither Basis (a supplement, not a pharmaceutical) nor Indexrequired FDA approval.
Still, consumers are increasingly interested in taking more control of their health, and biotech companies are eager to provide tools that, they claim, will help them do so. The problem is that the line between science and marketing gets squishy fast. Index not only complements Basis, it drives sales of the supplement:Doubt our claims? Take our test to see if its working!
And if it does work, then what? Like a lot of biotech for consumers, a central question is what to do with the information. Index results will come with some lifestyle recommendations, though its unclear what those will look likeexactly. Will they be any different than general advice weve already heard? Move a lot, hydrate, eat whole foods, get some decent sleep, go outside, spend time with loved ones. You know the drill.
Whether consumers will embrace their own epigenetic clock in a box is anyones guess. The novelty alone may give it at least an initial splash; you can almost imagine a new crop of younger-than-their-chronological-age bio influencers popping up on social media (save us now). But who knows. The science is certainly compelling, and Index could prove to be an insightful way to test lifestyle tweaks, dietary experimentation, and other interventions that might improve health. And if it does really make 50 look more like 30, five hundredbucks may seem like a bargain.
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The Sturge-Weber Foundation Provides New Catalyst Awards to Researchers and Biorepository Seed Fund – PR Web
Posted: at 2:43 pm
HOUSTON (PRWEB) November 13, 2019
The Sturge-Weber Foundation was able to provide much needed funding to several researchers through the generous donation of an anonymous donor as well as all of our supporters. Catalyst Grants were provided to several researchers who specialize in projects related to Sturge-Weber syndrome and other Port-Wine birthmark conditions.
Sarah E. Wetzel-Strong, Ph.D. of Duke University School of Medicine/Department of Human Genetics.. Dr. Wetzel-Strong received $25,000 for her project Characterizing lesion development in a mouse model of Sturge-Weber syndrome. This research will test several hypothesis surrounding GNAQ.
Four other researchers and one SWF specific project were provided funding to continue their research studies. The recipients of these awards are:
Nathan Lawson, Ph.D.: $7,000 - Generation of a zebrafish model for modelingSturge-Weber syndromeDr. Naiem Issa, Ph.D.: $5,000 - GNAQ Inhibitor Compound StudyDr. Jonathan Pevsner, Ph.D.: $5,000 - SWS Registry and ResearchSara Sabeti, $5,000 - SWS Consensus PaperSWF Biorepository Seed Funding, $10,000
The Sturge-Weber Foundation exists to drive critical research through the collaboration of professionals throughout the world to improve the quality of life for patients and their families with Sturge-Weber syndrome and other Port-Wine birthmark conditions. For additional information, please visit our website at http://www.sturge-weber.org, or email swf@sturge-weber.org.
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Personalis, Inc. Expands Oncology Portfolio With the Launch of Cancer Whole Genome Sequencing Services – Business Wire
Posted: November 13, 2019 at 1:48 am
MENLO PARK, Calif.--(BUSINESS WIRE)--Personalis, Inc. (Nasdaq: PSNL), a leader in advanced genomics for cancer, today announced the launch of Personalis Cancer Whole Genome Sequencing which further extends Personalis portfolio of comprehensive cancer genomics services designed to maximize biological insights from tumor samples.
This new offering continues our push to provide our customers genomics solutions that enable deeper insights into patient responses to oncology therapies, said John West, CEO of Personalis. We are uniquely poised to provide a leading cancer whole genome sequencing solution which combines Personalis deep technology and experience in analyzing cancer samples for biopharma oncology clinical trials and the large-scale laboratory and data systems developed for the VA MVP program, one of the largest whole genome sequencing programs in the world.
Earlier this year, Personalis was awarded a new task order under its contract with the U.S. Department of Veterans Affairs (VA) for the VA Million Veteran Program (VA MVP). This order brought the cumulative scale of orders received to date from the VA MVP to over 110,000 human genomes. Since 2013, Personalis has sequenced over 40,000 MVP samples. Personalis anticipates it will sequence the additional samples over the coming years as they are received from the VA.
As our understanding of the complexity of underlying mechanisms of cancer grows, it is becoming increasingly important to evaluate genome-wide structural variants, and other forms of non-coding genetic variation, commented Dr. Richard Chen, CSO of Personalis. This new service advances our position at the leading edge of cancer translational research with biopharma customers.
About Personalis, Inc.
Personalis, Inc. is a growing cancer genomics company transforming the development of next-generation therapies by providing more comprehensive molecular data about each patients cancer and immune response. The companys NeXT Platform is designed to adapt to the complex and evolving understanding of cancer, providing its biopharmaceutical customers with information on all of the approximately 20,000 human genes, together with the immune system, from a single tissue sample. Personalis also provides genomic information to the VA Million Veterans Program as part of their goal to sequence over a million veteran genomes. The Personalis Clinical Laboratory is GxP aligned as well as CLIA88-certified and CAP-accredited. For more information, please visit http://www.personalis.com and follow Personalis on Twitter (@PersonalisInc).
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Will genome testing of healthy babies save lives? – The BMJ
Posted: at 1:48 am
Matt Hancock has backed genome testing for healthy newborn babies, but how sound are his claims? Elisabeth Mahase reports
The media have reported that the health and social care secretary, Matt Hancock, and Genomics England are looking to launch a pilot next year in which parents will be asked whether they want their babies genomes tested to identify inherited diseases and whether they are at high risk of developing certain conditions later in life.12 Genomics Englands chief executive, Chris Wigley, said he hoped that around 20000 parents would take up the offer.
Hancock then took to Twitter to share the Timess article about the plan, saying, This is brilliant newsjust imagine how many lives can be saved when we know the genetic risks we face.3
David Curtis, honorary professor at University College Londons Genetics Institute, thinks not. He told The BMJ that Hancocks claim that the tests would be life saving was extremely misleading.
He said, Its difficult to think of any circumstances in which such a test could make a substantial difference, with the exception of tests for cancer causing mutations such as in the BRCA genes. But if these are indicated they can readily be performed in an adult who can consent to the testing procedure.
In a blog post in February Scott Grosse, from the US National Center on Birth Defects and Developmental Disabilities, warned, Genomic sequencing of healthy infants and children in particular could pose risks of harm due to uncertain validity and, in the vast majority of cases, limited clinical actionability or utility.4
The consultant clinical geneticist Frances Elmslie, executive committee member of the British Society for Genetic Medicine, said that current technology was good and was already used in the NHS for children with signs of an underlying problem without a known cause and for very specific rare diseases.
However, she said, if a baby was healthy, were not very good at working out, when we find something, if its going to cause a problem, unless its something well established like cystic fibrosis genetic changes.
Currently, patients are offered genetic testing through the NHS if their doctor thinks they could have a health condition caused by a change to one or more genes, if someone in their family has such a condition, if a close relative has cancer that could be inherited, or if the person or their partner has a condition that could be passed on to their children.5
Curtis said that there was a widespread misconceptionwhich Hancock himself has fuelledthat genetic tests can provide useful information about risk.
Although he can predict the probability of getting heads in a coin toss as 0.5, Curtis would still have no idea whether he would get heads. In the same way, if general background risk were 12%, and a genetic test accurately told someone they had a 14% risk, then they have learnt nothing useful at all.
Curtis warned that there was a danger of significant harm from misinterpretation of this information, as people may become unnecessarily worried or erroneously reassured, and change their behaviour towards their health and life for the worse.
Elmslie said that the plans also suggested use of polygenic risk scores, which predict the risk of someone developing a condition, such as Alzheimers disease, that is caused by a combination of genetic and environmental factors. Were really not very good at this at all, she said. And what use is that at the moment? It might be useful in 40 years time, when we have some sort of better prevention method, but at the moment we dont have that. So telling parents their child might develop this condition in the future is not that helpful.
The plans have also raised concerns around ethics and data security. Curtis said, The only justification to perform an investigation on a child who is unable to provide consent is that some immediate action is required. Most genetic tests have been developed mainly from people with white European ancestries and will work less well in patients from other ethnic backgrounds, he pointed out. He also warned that the information could end up in the hands of government agencies and commercial companies.
Hancocks suggestion that this scheme is going to be life saving is misleading. Aside from the ethical and data concerns about testing healthy babies genomes, the technology doesnt seem to be ready for the NHS and could lead to more harm than good. Any screening programme of this kind would need to adhere to the criteria of the National Screening Committee, including that the benefit gained by individuals would outweigh any harms such as overdiagnosis, overtreatment, false positive results, false reassurance, uncertain findings, and complications.6
The Department of Health and Social Care for England did not respond to The BMJs request for comment, and Genomics England would not provide The BMJ with any details of the pilot.
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Sequencing the genome of every UK baby would be an ethical minefield – New Scientist News
Posted: at 1:48 am
By Clare Wilson
Tetra Images/Getty Images
Plans for the National Health Service to sequence the DNA of every baby born in the UK, starting with a pilot scheme of 20,000 children, were announced by health minister Matt Hancock this week. It sounds like the UK is leading the way in high-tech healthcare but doctors are saying the idea is ethically questionable.
Babies are already tested for certain health conditions soon after birth, so it may seem as though sequencing their genome, their entire set of genes, is a simple upgrade of this routine screening, but that isnt the case.
UK babies are tested for nine carefully selected conditions, all of which can be avoided or lessened with pre-emptive treatment. For instance, the metabolic disorder phenylketonuria can cause brain damage, but this can be avoided through a low-protein diet.
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Unfortunately, most illnesses arent as simple or treatable. We are only at the beginning of our journey to understand the complexity of the human genome, and some of the information we have learned so far can create difficult dilemmas.
Take the genetic condition Huntingtons disease, which starts with mild symptoms in middle age, eventually progressing to severe disability and early death. There is no cure.
When people learn that Huntingtons is in their family, they may spend years deciding whether to take the test. Many choose not to. Parents who ask doctors to test their child are turned down, as set out in international guidelines. Deciding to learn if you have the gene responsible is such a personal choice that it must be left to the individual concerned once they turn 18.
Huntingtons is rare, but there are similar dilemmas over more common conditions such as genes that predispose people to Alzheimers disease and some types of cancer. There is currently little you can do to avoid dementia, and for women who learn they have a certain gene that increases cancer risk, the safest step is to have their breasts and ovaries removed.
Some people would rather not know about these risks before it is necessary. We have endless discussions about [the ethics of] testing children for conditions that dont manifest until later life, says Frances Elmslie of the British Society for Genetic Medicine.
Nor would it make sense to sequence children at birth then wait until they are 18 to give the results. In the intervening years, DNA sequencing is bound to become cheaper and more powerful. It would make more sense to offer it to every 18-year-old, says Martin Brunet, a family doctor in Surrey, UK.
There is a small group of children for whom genome sequencing can be useful: those with rare undiagnosed medical conditions. In one study, sequencing led to a diagnosis in a fifth of children in intensive care, and that figure is likely to improve over time. In these cases, parents can consent for their children because there is a medical benefit but that is very different to sequencing everyone out of curiosity.
A US group has begun a small trial of routine genome sequencing of healthy babies. The families are being monitored to see how they cope and to measure any harms and benefits.
No details are available about the UK plans and Hancock didnt respond to New Scientists requests for comment. But introducing sequencing for everyone is a massive step. It will require public consultation over the ethical questions not to mention on practical issues like how the data will be stored securely and the impact on doctors workloads, says Elmslie. We need to think really carefully about this.
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