Daily Archives: November 14, 2019

This week, over 8,300 researchers, exhibitors, and journalists arrived in Houston to attend the 2019 American Society of Human Genetics (ASHG) Annual Meeting to learn more about cutting edge research in the field of human genetics and genomics. Interestingly, one issue kept popping up throughout the ASHG meeting: the lack of diversity in human genomics research.

This isnt a new issue.

The human reference genome the sequence to which all DNA is mapped in reference to is largely based on individuals of European descent, making it difficult for individuals from under-represented groups to benefit from current progress in genomics. In fact, 70% of the human reference sequence actually originates from a single individual. While this reference genome has helped pushed the field forward, it doesnt accurately represent our global genomic landscape.

Researchers are aware of this issue and heres how theyre tackling diversity in genomics research.

One remarkable effort is being carried out by the Human Hereditary and Health in Africa (H3Africa) consortium, which was launched in 2013 to address the under-representation of African individuals in genomics. H3Africa, with support from the National Institutes of Health, sequenced the entire genome of 426 individuals from 13 different countries, providing a more complete picture of Africas genomic diversity.

In the opening ASHG plenary session, Neil Hanchard, assistant professor at the Baylor College of Medicine, shared that this large-scale sequencing effort identified over three million novel single nucleotide variants which have not yet been observed in current (largely European) genomic databases. For example, surveyed populations from Mali and Botswana had at least 6,000 novel common variants. This concept of "rare" and "common" variants is particularly important since how frequent a variant is in a population is often used to infer pathogenicity (i.e. how damaging it is). The H3Africa consortias initial findings show that some previously classified pathogenic variants are in fact not rare and are found in variable frequencies across African genomes.

This is a starting point, said Hanchard at the plenary meeting. African genomes have the potential to inform the [genomics] field more globally.

In a similar vein, a group of US researchers sequenced over 300 genomes from around the world, including both male and female individuals from different sub populations. By looking at breakpoints and sequence content, the researchers were able to use a technique called de novo assembly to align unique sequences (which previously could not be mapped) to the reference genome, thus constructing a more representative, and detailed, reference genome.

In addition to ongoing efforts like the ambitious All of Us program, these efforts can together help us move towards a future where people everywhere regardless of their geographic location or ethnicity - will all be able to reap the benefits of human genomics research.

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Fires explode across Australia as the continent records it's first-ever day without rain - Massive Science

Key Point: the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat.

Want to be a Russian paratrooper or tank commander? Then youd better hope you have the right genes.

The Russian military will be assigning soldiers based on their genetic passports.

The project is far-reaching, scientific, fundamental, Alexander Sergeyev, the chief of Russias Academy of Sciences, told Russian news agency TASS back in the summer (English translation here). Its essence is to find such genetic predispositions among military personnel, which will allow them to be properly oriented according to military specialties.

It is a question of understanding at the genetic level who is more prone to, for example, to service in the fleet, who may be more prepared to become a paratrooper or a tankman.

Advances in medical technology are making genetic testing a common medical procedure. It is used to detect genetic diseases such as cystic fibrosis, or the risk of developing certain diseases such as colorectal cancer. Pregnant women can also choose to be tested to determine whether their baby has genetic abnormalities such as Down syndrome.

But Russian President Vladimir Putin has embraced genetics with a passion. In March, the Kremlin issued a decree that called for implementation of genetic certification of the population, taking into account the legal framework for the protection of data on the personal human genome and the formation of the genetic profile of the population. Ostensibly this is to protect Russias population against chemical and biological attack, as well as safeguard Russias genetic patrimony from Western spies and saboteurs.

It has also spurred fears that Russia is edging towards a Nazi-style eugenics program in which certain groups, such as those Russians of Slavic ancestry, will be favored.

Either way, the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat. The project involves not only the assessment of the physiological state, but also the prediction of human behavior in stressful, critical situations that are associated with the military profession, says Sergeyev, Russia's chief scientist. Resistance to stress, the ability to perform physical and mental operations under the conditions of this stress, and so onall this may be contained in a soldiers genetic passport.

It is not just soldiers who will be genetically profiled. In December 2018, another Russian scientist announced that cosmonauts will be tested. The first area is the research into the humans genetics from the viewpoint of using it in the selection [for the cosmonaut program], said Lyudmila Buravkova, deputy director of the Institute of Medical and Biological Problems at the Russian Academy of Sciences. The second area is the attempt to remedy genetic errors as much as this should be done before a flight.

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To be clear, many militaries use some kind of testing, such as the U.S. militarys Armed Services Vocational Aptitude Battery (ASVAB), to determine whether someone is qualified for military service, and whether they are suitable for certain positions such as technical jobs. The U.S. military collects DNA from soldiers to identify their bodies if they are killed. The Defense Health Agency told the National Interest that the U.S. military does not use genetic testing to assign personnel.

Thats not surprising, given that genetic testing would certainly raise concerns over privacy and racial profiling. A civil rights issue that isnt likely to be a cause of furor in an authoritarian society like Russia.

The bigger question is whether an army can decide whether someone is better suited to be a pilot, a rifleman or a cook based on their genetic profile.

Michael Peck is a contributing writer for the National Interest. He can be found on Twitter and Facebook.

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The Russian Military Will Soon Assign Soldiers Based on Their "Genetic Passports" - Yahoo News

By Stephanie Miceli | Nov. 13, 2019

When Sara Altschule took a 23andMe ancestry test, the results confirmed what she already suspected: She is 77 percent Ashkenazi Jewish. However, months later, after opting into add-on health tests, she received life-changing news: She had a BRCA2 gene mutation, which is particularly prevalent among Ashkenazi Jewish women. Altschules BRCA2 mutation meant her lifetime risk of developing breast cancer is about 69 percent; for ovarian cancer, it is about 17 percent.

As at-home genetic tests grow in popularity, some individuals have expressed concern about the complexities of the results. Speaking about her experience with at-home genetic testing at a recent workshop of the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine, Altschule told attendees, The results not only probably saved my life, but may have also saved the lives of people in my family who now know they are also BRCA2 positive. While empowering for her, she also wishes she had received the results from a genetic counselor not via email.

Traditionally, there have been two main types of genetic testing: traditional tests initiated by a doctor, and direct-to-consumer (at-home) tests. Most people do a combination of both, said keynote speaker Robert Nussbaum, chief medical officer of Invitae. About one-third of people who take an at-home test share the results with a provider, who can make appropriate referrals based on the results, he said.

Knowledge Is Power

After seeing a genetic counselor and getting a more comprehensive blood test, Altschule decided to undergo a preventive double mastectomy at the age of 31. I felt powerless during this process, and I wanted to take my power back. This was the easiest and toughest decision of my life, said Altschule.

Panelist Dorothy Pomerantz, who also received news of her BRCA status via 23andMe, said online test results are not a replacement for a one-to-one conversation with a trusted provider. Pomerantz considers herself lucky to have received actionable information, though she still has complicated feelings about how that information was delivered.

This information is complicated and nuanced. We need someone to walk us through the dark, said Pomerantz. When my genetic counselor confirmed my results, she asked me what I needed in that moment. Did I need to vent? Did I want information? Did I need to be alone or cry?

Affordability Is Part of Accessibility

Aside from having access to genetic testing in the first place, Altschule and Pomerantz acknowledged they had the resources to get immediate follow-up testing and surgery.

What about those who cant get their doctors on the phone? What about those who dont have doctors at all? asked Pomerantz.

Without insurance, someone with a risk of cancer may not have those options, said Sadie Hutson, director of the Cancer Genetics Program at Pikeville Medical Center in Kentucky. In the Appalachian communities where she works, coal mining, the dominant industry, has been linked to high incidences of lung cancer. However, many people have to live with the knowledge of that risk and the inability to act on it.

Affordability of genetic testing is a very real problem, said Hutson.

There is also a dire shortage of genetic counselors in the region, she added. Hutson has partnered with mobile clinics and faith-based organizations that provide genetic testing and counseling free of charge, particularly to the regions Medicaid population. Hutson also noted the importance of offering free follow-up testing to family members.

Panelists discussed the accessibility of direct-to-consumer genetic tests for underserved and rural populations and ways to increase engagement, literacy, and reduce disparities.

Steps Toward Including All of Us

We have a skewed evidence base in human genomics research, said Malia Fullerton, professor of bioethics and humanities at the University of Washington School of Medicine. Because certain populations are underrepresented in research, when they do receive genetic testing, there is a lack of data that they can act on. Joyce Tung, 23andMes vice president of research, acknowledged most of the companys customers are white people of European descent and it wants to change that.

We cant provide information that we dont have, she said. A lack of data can halt progress and new discoveries in diseases that primarily affect diverse communities such as sickle cell disease, which is prevalent in people of African descent. Tung highlighted several initiatives at 23andMe that aim to improve diversity, including the African American Sequencing Project, Global Genetics Project, and the Latino Sequencing Project.

In addition, underrepresented populations are more likely to receive uncertain test results, often because their genetic variants have not been well-studied. As a result, they may experience unnecessary testing or lifestyle changes, or false reassurance, and the psychological burden that comes with it, Fullerton said.

To address the lack of diversity in genetic databases, last year, the National Institutes of Health launched its All of Us research initiative. It aims to collect data from 1 million Americans from various population groups.

The vast majority of 23andMe consumers 80 percent agree to share their data in the hopes of contributing to science and new insights about health and disease. However, the current lack of diversity in genetic databases risks hindering the science.

There is a critical opportunity for multiple sectors to come together to ensure proper inclusion of all individuals in genetic and genomic testing, said Hutson.

Integrating Consumer Genomics into Health Care

Speakers throughout the day acknowledged the challenges around integrating consumer genomics data into clinical care. Consumers often want information fast, but health systems may not be able to quickly provide the confirmation genetic testing following a positive DTC result.

This continuum of care has a lot of access points and a lot of people trying to find pathways, but really it is reflective of the overall health system, said Siobhan Dolan, a professor and vice chair for research at Albert Einstein College of Medicine. Maybe genetics has given people an opportunity to find alternative routes and maybe we could continue to learn from that try to put something together that is continuous.

Visit http://nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/2019-OCT-29.aspx to view speaker presentations and other information about the Workshop on Exploring the Current Landscape of Consumer Genomics.

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At-Home DNA Tests Still Need the 'Human Touch,' Say Panelists at Genomics Roundtable Workshop - National Academies of Sciences, Engineering, and...

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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One of the World's Greatest Geneticists, He Gave Up British Citizenship for India - The Better India

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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Dwindling tropical rainforests mean lost medicines yet to be discovered in their plants - The Advocate

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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Alector Reports Recent Business Highlights and Third Quarter 2019 Financial Results - Yahoo Finance

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

Applied Therapeutics, Inc.Balance Sheet

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Applied Therapeutics Reports Third Quarter 2019 Financial Results - GlobeNewswire

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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For $500, This Company Will Tell You How Well You're Aging - Outside

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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Ancient Rome: a 12,000-year history of genetic flux, migrations and diversity - HeritageDaily

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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The Sturge-Weber Foundation Provides New Catalyst Awards to Researchers and Biorepository Seed Fund - PR Web