Monthly Archives: September 2021

YAKUTSK, September 22. /TASS/. Experts of the North-Eastern Federal University in Yakutsk began putting together a list and a bio bank of the Arctic peoples hereditary diseases, the universitys leader of the Molecular Medicine and Human Genetics Laboratory, MD Nadezhda Maksimova, told TASS.

The project has won the Russian Ministry of Science and Higher Educations competition among university scientific laboratories.

"Our laboratory, jointly with the medical-genetic center at the national medical center - regional hospital number 1, has been working on a registrar of hereditary and congenital pathology in the peoples of Arctic and Russias North-East, which will have a bio bank of annotated biology samples of all the patients with hereditary diseases and their families. The bio bank will be used to study the gene fund of the peoples in Russias North-East and Arctic," the expert said, adding the projects territory unites Yakutia and Chukotka.

The projects task is to find solutions for the fundamental problems in medical genetics, which are related to studies into hereditary diseases. Scientists will make more accurate forecasts related to the human health conditions, prevention and control of such diseases, consequent disabilities and mortality both in Russias North-East and Arctic and in other regions.

The projects results will be used in solving applied tasks of the medical genetics, scientists say. Experts plan to find new pathogenic mutations, nosological forms of monogenic hereditary diseases in Russias North-East and Arctic, their spread and prevalence per 100,000 people and reasons of high concentrations in a population. Scientists also plan to compare the data on Russia with the data on other countries.

In addition to the registrar and the bio bank, under this project scientists will offer and implement a program of regional screening to identify seven most popular genetic diseases.

"We suggest organizing a prenatal screening in the region," the expert continued. "Presently, we conduct this screening jointly with the medical-genetic center at the national medical center - regional hospital number 1 without any special program and without additional financing. This year, for example, we have made about 2,000 tests. The current demand however is 10-15 thousand tests a year."

The program could be supported by the North - Sustainable Development Territory scientific-educational center, which is being organized in Yakutia. "We expect the program will be supported by investors and the state, since it carries out a socially important task - a healthy genetic population of the Arctic," the scientist added.

According to her, Canada, for example, has been offering the reproductive molecular-genetic screening. Couples or families undergo the test depending on national or ethnic origins. However, such screening programs could be done only if populations have been studied thoroughly.

"In our population <> this could be done, since we have major mutations, as they are called, which means the mutations are often. Thus, it could be effective. We could make sets focusing on our objectives," she told TASS.

Scientists have registered seven rare genetic disorders in the Yakuts. Every year appear up to 15 babies with such disorders. One of the diseases is tyrosinemia. "The treatment is well known, but it is expensive. A treatment program for a baby with such a disorder costs more than one million rubles ($13,700) a year. The disease is very serious, the child dies without treatment."

Another ethno-specific genetic disorder is the SOPH syndrome, which causes stunting with atrophy of the optic nerves, the 3M syndrome - the so-called Yakut stunting syndrome, the congenital deafness of the first A-type and hereditary methemoglobinemia, lipofuscinosis neuronal ceroid of the 6th type with a fatal outcome in childhood.

Scientists know another hereditary disease, which affects metabolism (in this case, the metabolism means a process at the cellular level - not to be confused with metabolism in the entire body). In joint research by the North-Eastern Federal University (NEFU) and the Osaka University (Japan), which has been conducted since 2013, experts have identified a gene responsible for a disorder which develops in early childhood and leads to high infant and child mortality. Later, the described disease was named the mucopolysaccharidosis-plus syndrome.

The Russian universitys scientists in 2017 presented a bio chip for immediate identification of five hereditary disorders, typical for Yakutia. One blood drop is sufficient for a test. Under the classical method, the test processing takes about 48 hours, and with the bio chip results are available in just four hours. The bio chip is also cost-effective.

The Molecular Medicine and Human Genetics Laboratory at the NEFUs Medical Institute was opened in January 2020 not only for studies but for better training of specialists in medical genetics with the objective to improve life quality by using high medical technologies, and by complex clinical and epidemiological and molecular-genetic studies of hereditary disorders.

The laboratory analyzes major factors of population dynamics (gene drift, mutations, inbreeding, migration), clinical and molecular genetic features of hereditary diseases, their genetic epidemiology and gene geography. Its experts apply integrated approaches, which include modern methods in medical genetics studies, such as population-based, clinical and genealogical, diagnostic, demographic, molecular-genetic, and bioinformatics.

Visit link:
Scientists work on list of hereditary diseases typical for Arctic peoples - TASS

GAITHERSBURG, Md.--(BUSINESS WIRE)--Adaptive Phage Therapeutics, Inc. (APT), a clinical-stage biotechnology company dedicated to providing therapies to treat infectious diseases, today announced that it has appointed Michele Wales, Ph.D., J.D., as Chief Legal Officer. Dr. Wales joins APT with extensive experience in litigation and intellectual property law, specifically within the life sciences industry.

Were thrilled to welcome Michele to the Adaptive Phage Therapeutics team. Micheles experience in intellectual property and patent law will be invaluable to APT as we continue to progress the development of our PhageBank therapies for the treatment of infectious diseases where standard-of-care antibiotics have failed, said Greg Merril, APTs Chairman and Chief Executive Officer.

Dr. Wales joins Adaptive Phage Therapeutics after serving as the Principal and Founder of InHouse Patent Counsel, LLC where she provided patent and intellectual property counsel for biotechnology companies. Prior to InHouse Patent Counsel, Dr. Wales spent 14 years at Human Genome Sciences where she served as the head of Litigation and Intellectual Property, managing all aspects of the companys IP portfolio, litigations, and investigations. Dr. Wales received her BS in Molecular and Cellular Biology from the University of Connecticut, her Ph.D. in Human Genetics and Molecular Biology from The Johns Hopkins Medical School, and her J.D. from the George Washington National Law Center.

I am honored to join Adaptive Phage Therapeutics at such an exciting time for the company and have the opportunity to make a difference in the lives of patients treated with PhageBank therapies, said Michele Wales, Ph.D., J.D. I look forward to working alongside the world-class executive team at APT as we continue to disrupt the infectious disease treatment paradigm.

Adaptive Phage Therapeutics, Inc.

Adaptive Phage Therapeutics (APT) is a clinical-stage company advancing therapies to treat multi-drug resistant infections. Prior antimicrobial therapeutic approaches have been "fixed, while pathogens continue to evolve resistance to each of those therapeutics, causing those drug products to become rapidly less effective in commercial use as antimicrobial resistance (AMR) increases over time.

APTs PhageBank approach leverages an ever-expanding library of bacteriophage (phage) that collectively provide evergreen broad spectrum and polymicrobial coverage. PhageBank phages are matched through a proprietary phage susceptibility assay that APT has teamed with Mayo Clinic Laboratories to commercialize on a global scale.

APTs technology was originally developed by the biodefense program of U.S. Department of Defense. APT acquired the world-wide exclusive commercial rights in 2017. Under FDA emergency Investigational New Drug allowance, APT has provided investigational PhageBank therapy to treat more than 40 critically ill patients in which standard-of-care antibiotics had failed.

For more information, visit http://www.aphage.com.

Read the original:
Adaptive Phage Therapeutics Appoints Michele Wales, Ph.D., J.D., as Chief Legal Officer - Business Wire

Utah real estate mogul Brandon Fugal has made a name for himself in Utah as the most successful commercial real estate agent around, leading many of the most prominent developments in the state.

Hes also known internationally as the owner of Skinwalker Ranch, the infamous plot in Eastern Utah with a wild history of paranormal activity. Fugal bankrolls the ongoing investigation documented in the HISTORY channel series, The Secret of Skinwalker Ranch. Fugal gathered the team of paranormal researchers diving into strange phenomena there and is a (maybe reluctant) central figure in the show.

Now hes making another sci-fi-inspired investment. Fugal has joined with a small group of scientists and fellow investors aiming to resurrect the long-extinct woolly mammoth. Its a premise straight out of Jurassic Park (or maybe Pleistocene Park), but according to the researchers involved, its far more feasible than the layperson might assume.

Fugal backs the efforts ofColossal Bioscienceswith a group of eclectic investors, including:

What may prove more interesting than the resurrection of a species is the counterintuitive reason for the effort.

The scientist at the center of it all is George Church Ph.D., genetics professor at MIT and Harvard. Church helped initiate the Human Genome Project in 1984, and is a central pioneer behind CRISPR, the gene-editing technique at the forefront of the field, allowing targeted editing of specific genes. Church has long been a proponent of bringing back the mammoth in a conservation effort, not for the animal itself per se, but for the ecology it enabled.

Colossals number one goal for reviving the mammoth is to decelerate melting of the arctic permafrost. In short, Church and others now believe the mammoth didnt necessarily die from climate change after the last ice age, but rather the death of the mammoth may have contributed to a changing climate. By bringing back the mammoth, along with its activity across the arctic landscape, morecarbon can be lockedin the permafrost.

Author Ben Mezrich, known for his book The Accidental Billionaires about the founding of Facebook, and bitcoin Billionaires about the Winklevoss twins early investment in bitcoin, penned a book in 2017 about the resurrection of the mammoth. His TED talk (embedded below) summarizes the plan.https://www.youtube.com/embed//mU-aBxu9N5I

Churchs own TED talk from 2013 also explores the topic.

For Fugal, the investment is perfectly in character. TechBuzz profiled Fugal in atwo-partseries discussing his ownership and operation of Skinwalker Ranch earlier this year, but even that peculiar investment isnt his first foray into the unbelievable.

My journey relative to Skinwalker Ranch began over a decade ago, says Fugal, when I was funding a research enterprise studying gravitational physics theory and Id say gravitational physics and energy theories.

The word Fugal notably didnt say was antigravity,which was a major focus of the research. Fugal was working with (in)famous physicist Harold Hal Puthoff, known for his work in areas often deemed pseudoscience.Despite the epithets, Puthoffs authority is well established. The 85-year-old scientist has a Ph.D. from Stanford and has been employed by the CIA and Defense Department as an employee and contractor for decades.

Puthoff has authored dozens of scholarly papers as recently as 2019 on topics likeExtracting Energy from the Quantum VacuumandExperimental Psi Research: Implication for Physics Psi in this title is shorthand for Psychic.

Investing in scientific efforts so far out as to border on pseudoscience is nothing new for Fugal. The Colossal investment may even be considered conservative compared to his past explorations. I have a passion for science, technology, and frontier physics that is unique in the realm of commercial real estate, he says in our interview earlier this year.

When we asked Fugal how many other projects like this that he had in the works, he had a straightforward answer and says, Quite a few.

Fugal is openly inspired by science fiction, and more broadly the heyday of 80s and 90s cinema, often posting his love for the genre and era on social media. His collection of sci-fi memorabilia is world-class, including multiple set-pieces and scripts from classics like The Terminator, the Alien franchise, a portal from the film Stargate,and many more.Hes also an active participant in the Ufology community, those studying evidence of otherwordly visitors and craft. Of course, Fugal is ahuge fan of Jurassic Park.

The Colossal investment comes at a pivotal time in Fugals life. On September eighth, Fugals father Daniel Boyd Fugal passed away. The elder Fugal was a longtime community leader entrepreneur in Pleasant Grove, Utah. Then this week, Fugal will be married to his girlfriend Kristen McCarty.

Brandon Fugal invests in resurrection of woolly mammoth was originally published on TechBuzz.news

See more here:
Brandon Fugal invests in resurrection of woolly mammoth - Utah Business - Utah Business

September 23, 2021

For the first time, an Arizona State University researcher has been selected as a Howard Hughes Medical Institute (HHMI) Investigator. HHMI, a nonprofit research organization, announced today that biologistJohn McCutcheonis one of 33 scientists chosen for this prestigious position in 2021.

TheHHMI Investigator programcurrently supports over 250 researchers at more than 60 research institutions across the U.S. With the new cohort of researchers, the organization is investing an additional $300 million in the program. Each new investigator will receive roughly $9 million over a seven-year term, which is renewable pending a successful scientific review. This funding model allows HHMI researchers to focus on their science.

Being selected as an HHMI Investigator is an incredible honor. The flexibility and stability of HHMI funding is unique in American science, and it will allow my lab to pursue difficult, long-term work that is nearly impossible with traditional funding mechanisms. Its incredibly exciting, said McCutcheon, associate director of theASU Biodesign Center for Mechanisms of Evolutionand a professor with theSchool of Life Sciences.

To truly tackle the worlds greatest challenges, researchers need to be empowered to explore, experiment and uncover truths about our world, saidSally C. Morton, executive vice president of Knowledge Enterprise at ASU. This kind of scientific freedom is both an incredible luxury and responsibility. Dr. McCutcheon is well-equipped to translate this generous opportunity into concrete progress in our understanding of nature and our place in it.

McCutcheon studies bacteria with a complicated living arrangement: They reside within the cells of sap-eating insects called mealybugs, where they provide nutrients that the insects cant make themselves or get from food. In return, the insects supply materials the bacteria cant make on their own.

He is exploring this partnership to better understand events that occurred more than a billion years ago. Back when all life was single-celled, one cell engulfed another and struck up a relationship that eventually gave rise to mitochondria internal energy plants that power organisms from yeast to humans. Millions of years later, a different cell took in a photosynthetic bacterium, eventually leading to chloroplasts an essential step in the evolution of plants and algae.

We study how bacteria infect animal cells and become near-permanent, long-term parts of these cells. Our hope is that some of this work will help us better understand how the mitochondria and chloroplasts came to be, and how they function today, said McCutcheon.

Read the original here:
ASU researcher chosen to be a Howard Hughes Medical Institute Investigator - ASU News Now

SAN FRANCISCO--(BUSINESS WIRE)--Esker Therapeutics, a precision medicine company backed by Foresite Capital and incubated by Foresite Labs that is reimagining the discovery, development and treatment of autoimmune disorders, today announced that Martin Babler has joined the company as president, chief executive officer and chairman of the board of directors. Mr. Babler succeeds founding CEO June Lee, M.D., who has transitioned from the company to pursue other opportunities. Dr. Lee will remain on the Foresite Labs scientific advisory board.

We are pleased to welcome Martin to the Esker team. His depth of experience as a leader in the biotech and pharmaceutical industries will be critical to the long-term success and growth of the company, said Jim Tananbaum, founder and CEO of Esker lead investor Foresite Capital. Esker has a meaningful opportunity to transform the future treatment of autoimmune diseases. We are grateful to June for her significant contributions in founding the company and her impactful leadership of Esker to this point. We look forward to building on that foundation and to exciting milestones ahead.

In addition to Mr. Babler, Esker has expanded its management and research teams to support and accelerate the companys vision of delivering precision immunology treatments to patients. The appointments include:

Esker will accelerate the development of precision medicine as a standard of care in immunology by focusing on three strategic pillars. First, Esker is building a pipeline of differentiated immunology therapies based on a deep understanding of biology and insights gained from the companys precision analytics platform, focused on human genetics. Second, and as an example of that approach, Esker aims to advance its highly selective TYK2 inhibitor program across multiple known and novel indications and augment its clinical pipeline through business development efforts. Finally, Esker will continue to leverage Foresite Labs advanced platform for large scale data generation and analysis to gain insights into immunology-associated pathophysiology at the patient, tissue, cellular, sub-cellular and molecular target level.

I am thrilled to join the Esker team as we work to build the preeminent precision immunology company of the future, said Mr. Babler. The mission of Esker is bold, and we have the resources and now an expanded team with a proven track record of building and leading successful companies as well as advancing several molecules from discovery into the clinic. Leveraging the teams deep expertise, we will build on our existing assets and further expand a pipeline of molecules against immunology targets of interest based on our analytical insights. I am excited to partner with this exceptional team and our board of directors to advance our programs and foundational science so that we may bring meaningful treatments to patients.

Eskers pipeline is led by ESK-001, a highly selective TYK2 inhibitor with greater selectivity for TYK2 over JAK1 compared to current therapies in clinical development, which is being developed for the treatment of psoriasis. Foresite Capital sourced the program, which was incubated by Foresite Labs and shepherded into first in human clinical trials by Foresite Capital. It is now fully owned by Esker and being evaluated in a Phase 1 clinical trial in healthy volunteers. Beyond ESK-001, Eskers pipeline is focused on delivering additional discovery-stage assets impacting the causal drivers of multiple autoimmune disease indications.

About Esker TherapeuticsEsker is a precision medicines company looking to eliminate the all comer approach that is seen with todays treatments for people with autoimmune disease. Even with innovation of the last decade, many patients continue to cycle through the approved therapies while continuing to look for the right therapy to alleviate the impact of their disease without life-impacting side effects. Esker leverages a precision analytics platform, powered by Foresite Labs, coupled with a team of experts with deep experience in precision medicine drug discovery, development and immunology, in order to create medicines that change the lives of people with autoimmune disease. For more information, please visit eskertherapeutics.com.

About Foresite LabsForesite Labs incubates companies that will address some of our greatest unmet medical needs. Their experienced team of scientists, engineers, and operators believes that the tools of data science, when applied with scientific rigor, will greatly accelerate scientific discovery and the development of new products and services that benefit patients. Through its incubation platform, Foresite Labs is dismantling the barriers faced by visionary entrepreneurs and their companies as they seek to re-invent healthcare. For more information, visit http://www.foresitelabs.com.

Read the rest here:
Esker Therapeutics Announces Management and Research Team Additions to Accelerate Advancement of Precision Immunology Therapies - Business Wire

Comparing Human Genetic Similarity to Other Life Forms

Of the three billion genetic building blocks that make us living things, only a handful are uniquely ours. In fact, despite our differences on the outside, humans are 99.9% genetically similar to one another.

But how alike are we to other, non-human life forms? Turns out, were a lot more similar than you might think.

First, how do scientists compare the genetic makeup of various life forms?

Comparative genomics is a branch of biology that compares genome sequences across different species to identify their similarities and differences.

This field of research is important because it:

According to the National Human Genome Research Institute (NHGRI), scientists have already sequenced the genomes of more than 250 animal species, as well as 50 bird species.

Perhaps unsurprisingly, chimps are one of our closest genetic relatives in the animal kingdom.

Because of our similarities, chimpanzees have a similar immune system to humans, which means theyre susceptible to viruses such as AIDS and hepatitis.

Though chimps are one of our closest relatives, other species are strongly linked to humans as welland not necessarily the ones youd think.

For instance, according to NHGRI, fruit flies are 60% genetically similar to humans.

This may sound confusing at first, since humans and insects couldnt be more physically different. However, because we share many of the same essential needs to sustain life, such as the need for oxygen, these similarities are reflected in our genetics.

Its important to note that being genetically similar to something is different than sharing the same DNA. Thats because genes (the part of DNA responsible for making protein) only account for up to 2% of your DNA, while the rest of your genome is made up of what scientists call non-coding DNA.

So while a banana is 60% genetically similar to humans, only 1.2% of our DNA is shared.

Like this? Then check out this article on Earths Biomass

More here:
Visualized: Charting 30 Years of Wildfires in America - Visual Capitalist