Category Archives: Human Genetics

LEXINGTON, Mass.--(BUSINESS WIRE)--Cyteir Therapeutics, Inc. (Cyteir) (Nasdaq:CYT), a company focused on the discovery and development of next-generation synthetically lethal therapies for cancer, today announced the appointment of Dr. Jeffrey S. Humphrey, MD, Chief Medical Officer of Magenta Therapeutics to its Board of Directors.

Dr. Humphrey is an accomplished clinical researcher and drug developer who has shepherded numerous drugs through all phases of development from pre-IND to post-launch. He is also experienced at building clinical research capabilities at several biotechnology companies.

Jeffs background and drug development expertise perfectly align with our mission at Cyteir to develop next-generation synthetically lethal therapies to treat cancer. On behalf of our entire board, we are excited to welcome Jeff and look forward to his contributions as we advance CYT-0851 and our next-generation portfolio, said Markus Renschler, MD, President and Chief Executive Officer of Cyteir.

Dr. Jeffrey Humphrey is currently Chief Medical Officer (CMO) of Magenta Therapeutics in charge of clinical development of Magentas pipeline of drugs to improve mobilization of stem cells and conditioning for stem cell transplants. Dr. Humphrey was previously CMO of Constellation Pharmaceuticals, recently acquired by Morphosys, directing development of drugs that modify epigenetic regulation of gene expression. Dr. Humphrey began his career in clinical research and development at Bristol-Myers Squibb and subsequently served in management positions for early- and late-stage drug development and medical affairs at Pfizer, Bayer, Bristol-Myers Squibb, and Kyowa Kirin where he was Chief Development Officer. He has contributed to the global registration of leading cancer drugs, including Nexavar, Erbitux, Sprycel, and Yervoy.

Dr. Humphrey is a graduate of Harvard College and Case Western Reserve University School of Medicine and completed his internal medicine residency at the Johns Hopkins Hospital and held post-doctoral fellowships in human genetics and medical oncology at the National Cancer Institute, with board-certification in internal medicine and medical oncology.

I am delighted to join the board of Cyteir Therapeutics at such an important time for the company and the portfolio, said Dr. Humphrey. I believe CYT-0851 has the potential to be used both as a monotherapy and broadly in combination with other therapeutic approaches. I look forward to working with the Cyteir team to bring CYT-0851 forward.

Karen Hong, PhD, a partner at Novo Ventures, has tendered her resignation from the Cyteir board upon Dr. Humphreys appointment. Id also like to thank Karen for her service and contributions to Cyteir. She joined the board in 2019 during our Series B financing and has been an important champion for our company, said Dr. Renschler.

About Cyteir Therapeutics, Inc.

Cyteir is a clinical-stage oncology company that is focused on the discovery and development of next-generation synthetically lethal therapies to treat cancer. The company is using its expertise in DNA damage response biology to advance a pipeline of novel drug candidates that selectively target key cancer vulnerabilities. Cyteirs wholly owned lead compound, CYT-0851, is a potent and selective, oral investigational drug that was designed to inhibit RAD51-mediated homologous recombination and the repair of double-strand DNA breaks.

Forward-Looking Statements

This press release contains forward-looking statements regarding Cyteirs expected pipeline developments and the therapeutic applicability of CYT-0851. Forward-looking statements include statements identified by words such as could, may, might, will, likely, anticipates, intends, plans, seeks, believes, estimates, expects, continues, projects and similar references to future periods. Forward-looking statements are based on our current expectations and assumptions regarding capital market conditions, our business, the economy and other future conditions. Because forward-looking statements relate to the future, by their nature, they are subject to inherent uncertainties, risks and changes in circumstances that are difficult to predict. As a result, actual results may differ materially from those contemplated by the forward-looking statements. Important factors that could cause actual results to differ materially from those in the forward-looking statements include: our limited operating history and that we have no products approved for commercial sale, which may make it difficult for you to evaluate our current business and predict our future success and viability; that we have incurred significant losses since inception and expect to incur losses for the foreseeable future and may never achieve or maintain profitability; our need substantial additional funding; that we have never successfully completed any clinical trials, and we may be unable to do so for any drug candidates we develop; that our clinical trials may fail to demonstrate adequately the safety and efficacy of any of our drug candidates, which would delay or prevent further clinical development of those candidates, or prevent marketing approval from FDA or similar regulatory authorities; our intention to develop CYT-0851, and potentially future drug candidates, for use in combination with other therapies, which exposes us to additional risks; if we are unable to successfully develop and commercialize companion diagnostic tests for our drug candidates, or experience significant delays in doing so, we may not realize the full commercial potential of our drug candidates; synthetic lethality represents an emerging class of precision medicine targets, and negative perceptions of the efficacy, safety or tolerability of this class of targets, including any that we develop, could adversely affect our ability to conduct our business, advance our drug candidates or obtain regulatory approvals; if we are unable to adequately protect and enforce our intellectual property or obtain and maintain patent protection for our technology and products or if the scope of the patent protection obtained is not sufficiently broad, our competitors or other third parties could develop and commercialize technology and products similar or identical to ours, and our ability to successfully develop and commercialize our technology and products may be impaired, the continuing outbreak of COVID-19 in the United States and other countries may adversely affect our business and the market price of our common stock; and other factors set forth under the heading Risk Factors in Cyteirs final prospectus dated June 17, 2021 related to our initial public offering, which is available on the U.S. Securities and Exchange Commission (SEC) website at http://www.sec.gov. Additional information will be made available by our quarterly reports on Form 10-Q and other filings that we make from time to time with the SEC. Any forward-looking statement made in this press release speaks only as of the date on which it is made. The company does not undertake any obligation to update any such statement or to publicly announce the results of any revisions to any such statements to reflect future events or developments, except as required by law.

For further information, please reference the companys reports and documents filed with the SEC. You may get these documents by visiting EDGAR on the SEC website at http://www.sec.gov.

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Cyteir Therapeutics Announces the Appointment of Dr. Jeffrey S. Humphrey to Board of Directors - Business Wire

According to a recent study led by the National Cancer Institute a majority of people won't be diagnosed with cancer in their lifetimes. The research, published in Aging and Cancer, involved a meta-analysis of previously published sequencing data on normal tissues, which DeGregori and Evans used to categorize somatic mutations, or mutations that occur after egg fertilization, based on their presence in cancer and showcase the number of cells with cancer-associated mutations in cancer-free individuals.

These percentages are worth remembering because research conducted by University of Colorado Cancer Center Deputy Director James DeGregori, PhD, a professor of biochemistry and molecular genetics, and Edward J. Evans, PhD, a postdoctoral fellow in the Department of Biochemistry and Molecular Genetics, found that most cancer-free individuals over age 60 carry at least 100 billion cells harbouring at least one oncogenic, or tumour-causing, mutation. "When you have trillions of cells and they're being maintained for up to a century, they're going to accumulate mutations," DeGregori explains. "The fact that we get mutations is not surprising, just based on known mutation rates. One thing this research points to is that we need to start looking at these mutations, and how or whether they cause cancer, from a different light."

"To understand the genesis of cancer, we need to look at normal tissue," Evans says. "By the time it's developed into cancer, all the mutations are there and we don't always know which ones are contributing to the actual genesis of cancer. "We had the idea that a lot of the mutations in people would be oncogenic or associated with cancer, but we just didn't know how many. We figured that it would increase as people get older, but we didn't necessarily know which genes would be prevalent and we didn't know the magnitude of how many cells could actually have these oncogenic mutations."

After reviewing existing literature, Evans collected datasets from researchers who previously had conducted research on mutations in normal tissue. He taught himself to code in the programming language Python so that he could pull appropriate data and create data frames to categorize mutations by the genes, tissue, and age of individuals in which they were occurring, among other factors. "We have about three trillion nucleated cells in our bodies, so to put it in perspective, 100 billion cells with oncogenic mutations isn't a majority of our total number of cells," Evans says. "But that's a surprisingly high number considering that it only takes one cell to cause cancer. If there are billions of cells with these mutations but no indication of cancer, what does that mean? What does it mean to have these oncogenic mutations in the body?"

One of the interesting facets of the research findings, DeGregori says, has been learning that oncogenic mutations can be extremely prevalent in certain types of tissue, including skin, colon, and oesophagus. "Some tissues can be absolutely dominated by these mutations," DeGregori says. "But if you look at the oesophagus, for example, half of it is loaded with NOTCH1 mutations, which rarely contribute to cancer in non-smokers. So, to test for this mutation isn't really useful if most of us have it and it rarely leads to cancer.

"If we're simply looking for oncogenic mutations, we're always going to find them and they may not tell us much about cancer risk. How those oncogenic mutations are interfacing with the tissue environment will tell us so much more about risk." A further avenue of research, DeGregori says, will be studying why some tissues have such a high occurrence of oncogenic mutations but a comparatively low occurrence of cancer, while other types of tissue have a relatively low level of oncogenic mutations.

"Before we began this research, I had no idea that almost 90 per cent of colon cells become occupied with cancer-causing mutations," DeGregori said. "That the number was so high was quite surprising, but a relatively low percentage of us will get colon cancer. So, it's going to be important to study this difference between tissue types. Why is it that epithelial tissue in the skin, for example, becomes dominated by oncogenic variants, but lung tissue actually keeps a fairly low level?" Evans says future research could continue studying which oncogenic mutations are most likely to contribute to cancer and help to hone genetic screening tools to test for the most cancer-causing mutations.

"The vast majority of mutations don't do anything, they don't cause any problems, and many aren't even in coding sequences," DeGregori explained."Every cell in our bodies has dozens and dozens of mutations, if not hundreds or thousands, so we have an opportunity to begin asking whether these patterns of mutations that we see can dictate whether someone is at high risk of cancer," DeGregori added. (ANI)

(This story has not been edited by Devdiscourse staff and is auto-generated from a syndicated feed.)

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Study finds that cells with cancer-associated mutations overtake human tissue with age - Devdiscourse

Multiple scientists and experts are weighing on what Americans should expect from the omicron variant of the coronavirus over the next few weeks.

Dr. Stephen Goldstein, professor at the Eccles Institute of Human Genetics at the University of Utah, told Salon that cases will rise in the next few weeks to peak levels.

Dr. Monica Gandhi, infectious disease doctor and professor of medicine at the University of California-San Francisco, told Salon that omicron is more transmissible and will cause a wave of new infections.

Its clear from these comments that the omicron variant is spreading and will continue to do so as we move through winter. Its unclear if the strain is less virulent meaning it causes less severe symptoms on its own or if people are more immune to the coronavirus by now, creating less severe symptoms.

Either way, the Centers for Disease Control and Prevention recently predicted a new surge of omicron cases will impact the U.S. by January 2022, according to The Washington Post.

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The future of omicron variant: Scientists predict whats next - Deseret News

image:Fig 2. Possible evolution and transmission pathways of SARS-CoV-2 and its related virus at animal-human- ecosystem interface. view more

Credit: Image Credit: Islam et al., 2021, PLOS ONE, CC-BY 4.0 (https://creativecommons.org/licenses/by/4.0/)

A genetic and geographic analysis of variants of SARS-CoV-2the virus that causes COVID-19and related viruses in humans and animals may provide evidence of interspecies transmission worldwide. Dr. Ariful Islam, of EcoHealth Alliance and the Bangladesh Institute of Epidemiology, Disease Control and Research, and colleagues present these findings in the open-access journal PLOS ONE on December 15, 2021.

Prior research has suggested that SARS-CoV-2 might have originated through genetic changes that occurred among closely related viruses in horseshoe bats. Reports also suggest that the virus can spread from humans to domesticated and wild animals (known as spillback). However, much remains to be learned about the epidemiology, evolutionary dynamics and genetic relationships between SARS-CoV-2 and related viruses in animals around the world.

To provide new insights, Dr. Islam and colleagues conducted a comprehensive analysis of the genome sequences of SARS-CoV-2-related viruses found in bats and pangolins, and of the SARS-CoV-2 strains that have been found in a variety of animals across the globe, including dogs, cats and lions.

Genetic analysis showed that SARS-CoV-2 strains found in animals are closely related to strains found in humans in the same geographic regions - including Germany, France, Spain, and Denmark - which evidences the theory that human to animal transmission has occurred worldwide. In future, if the virus becomes established in animal hosts, that animal species might act as a SARS-CoV-2 reservoir.

The researchers also quantified the degree to which genetic mutations associated with key SARS-CoV-2 subtypes and variants are found in animal species in different regions. Multiple emerging variants of concern, such as the Alpha, Delta and Mu-variants, were detected across many countries in species including dogs, gorillas, lions, and cats, and these variants showed notable genetic similarity with human SARS-CoV-2 sequences. For example, cats and American mink were frequently infected with one subtype of virus known as the GR clade (31.6% and 49.7% of samples respectively), which is also often seen in humans, supporting the likelihood of interspecies transmission. However, most dogs were affected by a different subtype, clade O (66.7%), which the authors suggest indicates a particular affinity of clade O for dogs. The SARS-CoV-2 Alpha variant comprised just 2.6% of cat and 4.8% of dog samples, but 66.7% of gorilla and 77.3% of lion samples.

Their genetic analysis revealed very high similarity between SARS-CoV-2 and related viruses found in multiple horseshoe bat species, as well as high similarity with related viruses in the Malayan pangolin. The analysis supports the hypothesis that SARS-CoV-2 originated from closely related bat viruses that genetically recombined with each other, and that the virus also passed through pangolins.

Animals appear to be susceptible to SARS-CoV-2 and may contribute to its spread. Thus, on the basis of their findings, the researchers call for continued genetic monitoring of SARS-CoV-2 in animals. They also call for prevention of contact between infected humans and animals, as well as vaccination of pets, zoo animals, and farm animals. The researchers advocate for surveillance at the human-animal interface to detect and prevent emergence of future viruses.

The authors add: Spillover and spillback of SARS-CoV-2 has been proved, and the mutant strain of the virus is still dominating. It is our responsibility not to destroy the natural habitats of wildlife. As bats play an important role in maintaining a healthy ecosystem, we need to work on how to live safely with bats. We should not wait until the next pandemic, and we need to apply the One Health approach to secure a healthier future for the world.

Observational study

Animals

Spatial epidemiology and genetic diversity of SARS-CoV-2 and related coronaviruses in domestic and wild animals

15-Dec-2021

The authors have declared that no competing interests exist.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Exploring genetics of SARS-CoV-2 and related viruses in animals around the world - EurekAlert

If you want to get a good sense of how the omicron variant of COVID-19 is going to spread in the United States, just look across the ocean.Inthe United Kingdom and South Africatwo nations in which the omicron variant is quickly becoming more dominant than delta, or has already infection rates are surging, largely becausethe variant is so much more transmissible. While current evidence suggests patients stricken with omicronare less likely to require hospitalization or die, huge infection rates have put massive pressure on both nations' infrastructure.

Now that omicron has graced the shores of the United States, we appear to be in the early phases of what the aforementioned countries are experiencing.In New York City, the percentage of people testing positive for COVID-19 doubled in three days this week, with a Mayor Bill de Blasio advisor attributing the spike to the omicron variant.During a Tuesday briefing for the Centers for Disease Control and Prevention (CDC), top federal health officials told reporters that there had been a sevenfold jump in the prevalence of theomicron variant over the course of a single week.

Although the surgecould subside after the spring, they added thatif current trends persistthere may be a public health crisis. This would beespecially so if the delta variant continues to wreak havoc, and aninfluenza epidemic exacerbates the problemcaused by the pair of COVID-19 strains. The former scenario is already occurring and the latter is increasingly plausible, at least based on the timetable that scientists have established for when the omicron variant is likely to surge in the United States.

"Based on data from South Africa and Europe we can expect a significant increase in case numbers here in the US in the next several weeks,"Dr. Stephen Goldstein, professor at the Eccles Institute of Human Genetics at the University of Utah, told Salon by email."It is possibletolikely that peak cases numbers will exceed last winter's peak."

Dr. Georges Benjamin, executive director of the American Public Health Association, predicted that omicron will become the dominant variant in the United States within three to six months.

"This is based on its high degree of infectiousness, the significant number of people unvaccinated and the degree of breakthrough infections for people that are fully vaccinated but un-boosted," Benjamin explained in writing."Breakthrough infections in people that are fully vaccinated and boosteddo occur, but are at a lower rate."

The underlying problem is that the omicron variant is more transmissible than previous variants. When it comes to stopping a pandemic, there are few things that epidemiologistsdread more than a hyper-transmissible bug.

IndeedDr. Russell Medford, chairman of the Center for Global Health Innovation and Global Health Crisis Coordination Center, told Salon by email that he expects the omicron variant to dominate in the United Statesjust as it currently does in the United Kingdombecause "the omicron variant is significantly more transmissible than delta."

Dr. Monica Gandhi, infectious disease doctor and professor of medicine at the University of CaliforniaSan Francisco, also said that the omicron variant is "more transmissibleand will cause a wave of new infections," but added that"there is now evidence that Omicron is less severe than previous strains." What scientists do not yet know, she added, is "if this is because of increasing cellular immunity in the population in December 2021 versus an inherent property of the strain that makes it less virulent."

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Beyond transmissibility, the next-biggest concern with omicron is the question of vaccine resistance. In the past six months, the delta variant's spread was blunted by the number of vaccinated Americans and while delta was faintly vaccine-resistant, the majority of COVID-19 hospitalizations and deaths in the United States were among theunvaccinated, prompting the head of the CDCto dub the situation a "pandemic of the unvaccinated."

Yet omicron may be more vaccine-resistant than delta, primarily for reasons relating to mutations onthe spike protein.B.1.1.529 (the omicron variant's official name) has30 mutations located near the spike protein which is worryingmainly because the mRNAvaccines produced for COVID-19 specifically target it. The spike protein comprises thespikes that jut out from around the SARS-CoV-2 virus'central sphere like spines on a sea urchin. The virus uses those spikes to enter a body's cells, like a pick being used to open a lock, while existingvaccines help one's cells produce proteins like those on the spikes that the immune system produces antibodies against. If the mutations sufficiently alter the spike protein, the body's immune system may be less adept at recognizing the virus, having been prepared to fight a different version of the spike.

"The two vaccinations, typically of any of the vaccines, offervirtually no protection against infection and transmission,"Dr. William Haseltine,founder and former CEO of Human Genome Sciencesandcurrently the chair and president of the global health think tank Access Health International, told Salon."Three vaccinations offeronly very temporaryprotection after three months."

Haseltine also noted that the vaccines were adept at reducing hospitalization and death, perhaps even by as much as tenfold, but"will not eliminate it." And, he added, the vaccines "will notspare those who are infected from you who are not similar protected from the consequences ofthe disease, which can be quite serious." That's because the vaccine is defensive, Haseltine said: it does not stop the virus from entering the body, only fights it once it is inside.

Want more health and science stories in your inbox? Subscribe toSalon's weekly newsletter The Vulgar Scientist.

Goldstein drew attention to a different caveat to the undeniable advantages of pre-existing immunity (whether through vaccination or infection).

"While encouraging on an individual basis, this coming surge will almost certainly produce enough severe infections to overwhelm already stretched healthcare resources," Goldstein pointed out."Double vaccination orprior infection, though they likely blunt severity, will not provide substantial protection from infection and onward transmission of omicron. It is imperative that people get vaccinated and/or boosted as soon as possible to protect themselves from the imminent omicron surge."

Medford seemed more cautiously optimistic in his assessment. He told Salon that the omicron variant was "considerabl[y]more resistant than delta to the neutralizing antibodies generated by our first line mRNA vaccines, and even more so with other vaccine types" andadded that "fortunately, a third dose of the mRNA vaccine, or booster, appears to largely correctthis vaccine resistance." He said he thinks it is likely that the mRNA vaccines remain effective, "especially with a third dose booster," when it comes to preventing hospitalizations and deaths from serious omicron variant infections although he added this has not been formally documented.

When it comes to the long-term consequences of the omicron variant in terms of the COVID-19 pandemic, two of the experts who spoke with Salon used the same word "endemic."

"The pandemic is transiting into aphase where it is endemic," Benjamin told Salon. "This means there will episodic outbreaks that will be managed by contact racing, individual quarantines, targeted closures of activities or events and vaccinations /revaccinations for people that need it. Eventually as the disease becomes less severe/lethal some of these pubic health measures may be relaxed."

Medford had a similar observation.

"COVID-19 variants such as omicron and others in the future will become an endemic feature of this disease akin to seasonal influenza," Medford explained. "The data today with current vaccines are promising in that full vaccination (3 doses) are remain effective even in the face of new and structurally different viral variants."

If COVID-19 truly is going to be endemic, then perhaps policymakers will need to take that into account.Looking forward, Gandhi (who did not use the word "endemic" in her email) suggested that it might be wise for public health officials to base their policies off of hospitalizations rather than infections, given that the omicron variant could lead to a surge of mild cases.

"We are likely to get many cases with omicron worldwide but since the severity of disease is reduced the impact of this variant (and restrictions such as mask mandates and capacity limits) should be based on hospitalization metrics for COVID-19," Gandhi pointed out. "If the omicron variant is that transmissible but causes less severe disease, it is likely to find unvaccinated individuals, leading to more immunity in those populations, and infect even vaccinated individuals, boosting their immunity even further which will hasten more immunity and hopefully make the pandemic calm own worldwide."

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We asked scientists what the omicron variant is going to do to the United States - Salon

Researchers at Boston Childrens Hospital found that replacing a mutated protein in the inner ear reversed severe hearing loss in mice, according to a study published in the journal Science Advances. The first-of-its-kind gene therapy technique involved replacing a mutated protein called stereocilin, (STRC), in the inner ear. The investigators said it reversed severe hearing loss in mice and in some cases, restored it to normal levels of hearing, according to a news release.

Closeup of examining ear with an otoscope

The researchers explained in the release, that hearing loss has been associated with mutations of at least 100 different genes. The researchers stated that up to 16 percent of genetic hearing loss could be linked to the gene STRC, which they noted is also the second most common genetic cause.

"Patients who carry STRC mutations lack cochlear amplification entirely and, as a result, suffer from reduced auditory sensitivity and have difficulty with frequency discrimination and speech perception", the authors stated in the published report in the peer-reviewed journal.

In order to hear sound, sensory hair cells in the inner ear need to make contact with the tectorial membrane the researchers reported. The membrane responds to sound by vibrating and converting the vibrations into signals that travel to the brain.

The investigators say the stereocilin protein acts like a scaffold and helps the hair cells stand up in an organized bundle, which allows the hair cell tips to touch the tectorial membrane.

COVID-19 CAN INFECT INNER EAR CELLS, RESEARCHERS SAY

"If stereocilin is mutated, you dont have that contact, so the hair cells are not stimulated properly," Jeffrey Holt, Ph.D., a scientist in the Department of Otolaryngology and Neurology at Boston Childrens, said.

"But importantly, the hair cells still remain functional, so they are receptive to the gene therapy. We think this will provide a broad window of opportunity for treatment from babies to adults with hearing loss," Holt, who is also the studys senior investigator, said in the release.

Tinnitus is not a condition itself, but rather is a sign of one, such as age-related hearing loss, an earwax blockage, or stiffening of the bones of the middle year, according to the Mayo Clinic. (iStock)

Using a generated mouse model, the researchers designed a dual-vector protein-recombination strategy to replace full-length wild-type Strc in the outer hair cells of mice that carry STRC mutations, according to the study. The investigators discovered what they described as "robust restoration of fulllength stereocilin protein" in the mice and noted hair bundles that had a normal appearance and were able to contact the tectorial membrane, according to the report.

The researchers then performed two types of hearing tests. One is often used in babies and another one that used electrodes on the scalp to measure auditory brainstem responses to a range of sound frequencies and intensities.

GROWING EVIDENCE LINKS COVID-19, HEARING LOSS, RESEARCHERS SAY

The study findings revealed the mice were more sensitive to subtle sounds. The Boston team also discovered the mice had improved cochlear amplification, which they described as increased ability to amplify soft sounds, tamp down the response to loud sounds, and more accurately discriminate between sounds of different frequencies. Hearing was restored to normal levels in some mice, according to the release.

The man listens attentively with her palm to her ear, close up (Credit: iStock)

"The results were remarkable and are the first example of hearing restoration using dual-vector gene therapy to target sensory outer hair cells," said Olga Shubina-Oleinik, PhD who is the studys first author. Eliot Shearer, MD, PhD, who is a co-author of the study and worked with the Childrens Rare Disease Cohort Initiative to screen a large genomic data set for STRC mutations, said in a release, that 2.3 million people worldwide carry STRC mutations and could potentially benefit from this therapy.

"It turns out that STRC gene variations are more common than we thought which makes gene therapy for this disorder so important."

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The Boston team plans to investigate if the gene therapy technique works with the human stereocilin gene using human inner ear cells in a dish, derived from patients with STRC hearing loss. If it restores auditory function at the tissue level, the researchers hope to apply to the FDA for permission to test it in humans, according to the news release.

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Advanced gene therapy may reverse hearing loss caused by genetics: study - Fox News

Its classic Biology 101: A mother has two sex chromosomes, X and X, and a father has an X and a Y, and the combination in a new embryo determines the sex. So, statistically, there should be an equal number of newborn male and female babies in the world. But, in reality, there are slightly more boys than girls. According to World Bank data, the global sex ratio at birth (SRB) of males to females in a population stands at around 107:100.

In order to offer some explanations for this phenomenon, a team of scientists did a large-scale study, attempting to find associations between various societal and environmental factors for shifts in the SRB in both directions. They found that factors including chemical pollutants, food deserts, and crowdedness led to slight changes in SRB. They note these are only correlations, so more work has to be done to assess direct cause and effect, and to explain why it might be happening, biologically.

Sex is determined at conception, when parents chromosomes pair up in random fashion. So, its likely later, during pregnancy, when environmental factors could shape the fate of an embryo, says Andrey Rzhetsky, professor of medicine and human genetics at the University of Chicago, and one of the studys authors. Whether more male or female embryos die during gestationessentially, via miscarriagesprobably determines the SRB. Under different circumstances, embryos of one sex are dying more often, skewing the SRB one way or the other. Sex ratio is determined by the environment because some embryos are dying spontaneously, he says. And we dont know why.

Using national data, the team studied the entire Swedish population (about 9 million) over the course of 30 years, and half the U.S. population (about 150 million) over the course of 8. They tested 100 hypotheses, including environmental factors like the presence of mercury in water, lead in land, and air pollution particulates; and social factors, such as traffic, high renter-occupancy level, and negative food-related business, an EPA term denoting an areas higher prevalence of unhealthy eateries like fast-food restaurants, convenience stores, and pretzel trucks.

They found that some of the factors produced more male babies born compared to females, while others produced the opposite. For instance, pollutants like mercury in water and fine particulate matter in air were associated with more male babies, whereas lead in land correlated with more female babies. Extreme drought and traffic fatality rate were associated with males; high renter-occupancy level and fast-food prevalence with females. Within some groups tested, the researchers registered up to a 4% change in the SRB, which would equate to about 40,000 babies in a population of 1 million.

Rzhetsky notes that these are simply associations, not causes and effects. Still, he argues that they are more than coincidences, given that sex ratio consistently varies across the U.S. Without further work, he wont speculate much as to why, biologically, these changes happen. He says, its established that stress factors can cause termination, so its possible that a biological mechanism terminates a pregnancy under unfavorable factors, when high stress hormone levels are detected, to try and keep a mother safe.

Hes also open to a possibility, as other scientists have suggested, that the stress factors skew survival of gametes (the cells that come together to form an embryo) of one sex more than another, meaning that the environmental effects are happening before gestation. But, because the chromosome pairing is random, he thinks the miscarriage theory is more plausible. To ascertain more, and concrete, explanations, he recommends further work, probably with lab mice, or experiments with human cell tissuesboth embryos and gametes.

A notable, and perhaps surprising, finding from the study was that some factors, which scientists long thought would be prime drivers of sex ratio change, including changes of the seasons and of ambient temperatures, were not associated with SRB shifts. Nor were stressors such as violent crime and unemployment. But, Absence of proof is not proof of absence, Rzhetsky says, again recommending further study.

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Could pollution, traffic, and fast food be affecting how many babies of each sex are born? - Fast Company

The most spiritually intense experiences of life have the capacity to momentarily withdraw a person from the realm of time and space. It is inevitable that people want to be in pursuit of spirituality that not only brings harmony and serenity within the soul but also enlightenment to the mind. Spirituality is the food for soul, soul craves it; and when unable to find it, looks for it in inebriated materials. Nonetheless, spirituality can be experienced by any human being irrespective of him/her being religious or profane. Scientists at the Yale University have unearthed the exact spot in human brain which activates when people experience spirituality. According to Marc Potenza, a psychiatry professor at Yale University, parietal cortex in human brain is the area associated with spirituality. Thus, neuropsychological connection with spirituality makes it not an unattainable feat to achieve and is also essential in knowing the brain functioning.

Spirituality, with its meaningful charisma, is culturally all-encompassing and inclusive. Religion, on the other hand, is more of an institutionalized entity. Transcendence, which is the ability to transcend ones own self, is also associated with spirituality. Similarly, enlightenment, according to Buddhist point of view, is the absence of suffering and desire, along with presence of absolute peace. Low stress and anxiety levels are observed among people who experience enlightenment. The reason lies in the decreased activity in frontal lobes, attained during meditation. 24/7 working frontal lobes, processing complex information and events all the time, when experience lower to none activity during meditation practice or prayer, delve into the realm of enlightenment where there is no stress, hassle or worry. Lower activity in frontal lobe is linked with the feelings of surrendering ones will completely, states Andrew Newberg, a neuroscientist, and the author of The Metaphysical Mind: Probing the Biology of Philosophical Thought. When our egoistic mind submits itself completely to something infinite and larger than itself, it experiences enlightenment.

The general perception regarding the attributes that genetically transfer from generation to generation is a lot complex to discuss in case of spirituality. Geneticists themselves admit of genes not telling every complex detail of human genetics. So, there still lacks data regarding religious and spiritual beliefs being transferred from parent to offspring. However Dr. Dean Hamer, author of the book The God Gene: How Faith is Hardwired into our Genes complements the gene variation in subjects who experience ecstatic and euphoric moments during spiritual activity. Still, the question whether spirituality is genetically transferred or not is debatable and needs further elucidation. On the other hand, neural substrate of human beings does support spirituality and beliefs. Our brain is designed to recognize God, because, if it doesnt, the suffering arises. We have God neurons deep in our limbic system (also linked with emotion), states Rhawn Joseph, a neurotheologian. The question then arises: can only theists have this neutral network in their brain to posses these god neurons? In Professor Jordan Grafmans words, There is nothing unique about religious belief in these brain structures. Religion doesnt have a God spot as such, instead its embedded in a whole range of other belief systems in the brain that we use everyday. According to my opinion, based on analysis, god neurons are present in everybody, theist or atheist, the key is to recognize and hit that particular spot that brings spirituality and enlightenment. One can experience spirituality or enlightenment through meditation practices. The focus needs to curb our 24/7 talking brain, which hassles to think about every problem there is. As the study suggests that a human thinks approximately 6200 thoughts per day. Not one, not two, 6200 thoughts. And meditation practices offer a chance to submerge into a no-thought brain. Hence, it is indubitable to say that our brains are hardwired to tap into the spiritual realm.

Religion has existed for centuries and peoples belief in the higher and ultimate authority has given them a sense of belonging and feeling of security. In US, 80% adults have a kind of religious or spiritual belief, according to a study published online in The Council on Recovery. People with no belief are usually seen to undergo existential crisis, lacking a sense of meaning and purpose. The hollowness, void and nothingness pervade the being; even the world itself appears purposeless. The raison dtre is their inability to identity the godneuron in their brains. It is not surprising then why people commit suicide out of agonizing stress and constant worry. The neurotheological study, therefore, is significant in elucidating concepts about the workings of the brain. Scholar Akshat Jain and his teams working in this area of Neuroscience to open few more gates.

This world is a trivial place to live in. Everyday worldly experiences can tire a brain to an excruciating level. Consequently, the modern world is fraught with innumerable cases of stress disorders. Our means of survival and meaningful living are highly dependent on spiritual experiences. They have a profound impacts on peoples lives, state researchers at Yale University. Religious people, gurus, monks, nuns, mediators; all of these peoples calmness and wherewithal to take this world and its problems flippantly, is because of their years of meditational practice. In James Allens words, Meditation is the secret of all growth in spiritual life and knowledge. Therefore the question is not whether your brain is spiritual of not, but have you tapped into your brain to make it spiritual. To conclude with a quote of Amit Ray, Suffering is due to disconnection with the inner soul, meditation is establishing that connection.

Views expressed above are the author's own.

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Neurotheology : Is Your Brain Really Spiritual? - The Times of India Blog

Human genetics is the study of how genetic, environmental, and behavioral factors, as well as their interactions, influence human traits, health, and disease. Public health genetics applies advances in human genetics and genomics to improve public health and prevent disease in diverse populations. Genetic counselors work as members of a health care team, providing information and support to patients with genetic disorders and those at risk for inherited conditions.

The Department of Human Genetics is dedicated to graduate training in human genetics research (including molecular, statistical, and bioinformatics research), public health genetics, and genetic counseling.

The mission of the department is to

Human genetics research has helped answer fundamental questions about human nature and led to the development of effective treatments for many diseases that greatly impact human health. Faculty in the Department of Human Genetics have developed and used genetic methods to investigate the causes and treatment of hereditary and acquired human illness and to understand and explore the impact of genetics on public health, education, and disease prevention.

Pitt Public Health human genetics faculty and students currently are involved in varied research projects, including...

Graduates of Pitt Public Healths human genetics program typically go on to positions in academia or in industry and usually are employed by their graduation dates. Alumni currently are working in academic, government, health care, and commercial sectors, including...

The Department of Human Genetics offers four masters level programs, and two doctoral programs:

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Human Genetics | Pitt Public Health | University of Pittsburgh

Genetic testing had its origins in the 1950s when scientists discovered that an additional copy of chromosome 21 causes Trisomy 21, also known as Down syndrome. Methods for staining chromosomes were used to sort and count chromosomes, a process called karyotyping. That process, combined with the ability to collect fetal cells from a pregnant womans amniotic fluid, provided scientists the ability to conduct genetic prenatal screening. Such testing revealed DNA-based diagnoses of genetic disorders caused by biologic irregularities such as too many chromosomes, too few, or clusters of chromosomes in the wrong places. As genetic testing became widespread, scientists began researching the substance of DNA, the chemical structure deciphered in 1953 by Rosalind Franklin, James Watson, and Francis Crick. Over the next several decades, it was discovered that helix-shaped patterns of paired chemical bases adenine, thymine, cytosine, and guanine provided a code that cells would decode into amino acids, the building blocks of protein. Scientists also discovered through research into the human genome that approximately 98% of DNA doesnt actually code for proteins, and was seen as junk DNA.

APPLICATION IN OBSTETRICS

As science around genetics developed, the application and use in obstetrics medicine also expanded. Many diseases that affect humans have a genetic component. Some disorders are passed from parents to their children at conception. A change in DNA sequence away from the normal sequence can result in a genetic disorder. Such genetic disorders can arise through mutation in one gene (monogenic disorder), mutations in multiple genes (multifactorial inheritance disorder), a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).

Advances in genetic mapping and technology have increased the accessibility and affordability of preconception carrier screening for couples considering pregnancy. Given the advanced reproductive technologies now available, preconception carrier screening allows a woman and her reproductive partner to make informed reproductive decisions.

Systemic genetic screening has been available in the United States since the 1960s, when Dr. Robert Guthrie developed the newborn screening test for phenylketonuria, a metabolic disorder also known as PKU. Since 1964, the Minnesota Department of Health has coordinated the screening of all newborns for more than 50 inherited or congenital disorders via a blood draw between 24 and 48 hours of birth. In 2010, the Recommended Uniform Screening Panel (RUSP) was adopted as a national standard for newborn screening, consisting of five main categories: (1) hemoglobinopathies, (2) organic acid disorders, (3) amino acid disorders, (4) fatty acid oxidation disorders, and (5) miscellaneous disorders, such as cystic fibrosis and hypothyroidism. The newborn screening program is the largest genetic screening program, with approximately 4 million infants tested annually. While the advances in newborn genetic screening programs have improved the detection and early intervention for treatable genetic conditions, newborn testing cannot replace preconception or early prenatal carrier screening of the parents.

Beginning in 2017, obstetricians were advised to expand genetic screening offerings to their patients. Two committee opinions from the American College of Obstetricians and Gynecologists (ACOG), published in the March 2017 issue of Obstetrics & Gynecology, expanded guidelines on carrier screening for genetic disorders. These committee opinions were issued in response to the availability and affordability of expanded genetic testing that could screen for hundreds of conditions in one test, as well as in response to dilution of ethnic population concentrations that had previously guided genetic screening recommendations. ACOG Committee Opinion 690, Carrier Screening in the Age of Genomic Medicine, includes general guidelines; and Committee Opinion 691, Carrier Screening for Genetic Conditions, addresses testing for specific diseases.

The committee opinions distinguish three scopes of genetic screening:

The general recommendation advises individual health care providers to establish a standard approach they offer consistently to patients, including counseling and informed consent. Counseling should include discussion of residual risk resulting from de novo mutations and mutations not included in test panels. At a minimum, the committee opinions advised that all patients should be offered screening for cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, because these are the more common recessive inherited conditions.

Advances in genetic science has led to the availability of preconception screening, offering couples seeking to become pregnant the opportunity to test for genetic changes that have little or no impact on their own health but can cause significant health problems for their children. ACOG defines carrier screening as genetic testing performed on an asymptomatic individual to determine whether that person has a mutation or abnormal allele within a gene that is associated with a particular disorder. Genetic changes carried by both partners can cause a health condition if both copies of the genetic change are inherited by a child. These are known as autosomal recessive conditions. Genetic changes that are carried by the female partner and cause a health condition when a male child inherits the genetic change are known as X-linked conditions.

Carrier testing is particularly valuable for consanguineous couples, whose offspring are at elevated risk of inheriting recessive mutations from shared ancestors. Prenatal carrier testing provides information for diagnostic testing of the fetus or newborn, for termination, or for arranging care.

Ideally, carrier screening should occur prior to pregnancy. If both partners are carriers for the same genetic condition, genetic counselling is recommended to help couples understand the meaning of the test results and the available reproductive options, such as in vitro fertilization (IVF) with prenatal diagnosis and preimplantation genetic testing of embryos, or the use of donor gametes.

Current guidelines by ACOG are that womens health care providers offer carrier screening to all individuals who express an interest in becoming pregnant, regardless of ethnicity or family history. Recent progress in genetic testing technology with next- generation sequencing makes expanded carrier screening readily accessible for most couples. Where couples present themselves for preconception health evaluations, a provider has a duty to inform of the availability and offer carrier screening. When genetic screening isnt offered to individuals seeking preconception evaluation, it is a deviation from accepted standards of care and could give rise under certain circumstances to a claim for wrongful conception.

With the added scientific knowledge gained through the National Institutes of Health Human Genome Project and spin-off research, we can expect to see continual expansion in applications for genetic science.

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The Evolution and Practical Application of Genetic Testing - Lexology