Category Archives: Human Genetics

It could be in their genes, posits Tangye. Genetic influences are either making people vulnerable to really severe disease but may also contribute to resistance there are populations of people who probably should have been infected and sick but werent.

Exactly which genes have a protective effect is part of an international research project called the COVID Human Genetic Effort, that Christodoulou is involved with.

We are collecting information and DNA from individuals who have been hyperexposed to COVID but who dont seem to contract COVID for example, living in a household where multiple family members were infected, but one member of the household wasnt to see if genetic factors can be identified that might offer protection against COVID infection, says Christodoulou, who is also the chair of Genomic Medicine at the University of Melbourne.

While researchers keep searching for the genetic clues, a new study published at the end of April, found booster shots can increase the range of immune cells, called memory B cells, making them more effective at neutralising COVID.

With any infection or vaccination, our body responds and then forgets the virus, explains Tangye, but becomes better at responding with repeated exposure. The first and second doses are like the training, getting your immune system into good shape and ready to take off and the third really gives you the protection you are primed and ready to go.

So if someone who has recently been vaccinated is exposed to COVID, they may be protected. If they have been boosted, this may provide even more protection, at least for a time.

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The degree of exposure how long we were in contact with someone and whether we were inside or out will also make a difference, as will our behaviour.

People have become much more cognisant of social distancing and washing their hands and wearing masks. There are those non-pharmaceutical interventions people have embraced, Tangye says.

As for how healthy you are generally, that unfortunately wont make us resistant to catching COVID.

We regularly hear of otherwise young, fit and healthy individuals contracting very severe COVID, says Christodoulou. For those otherwise healthy people we know that there are some factors that are associated with this, e.g., having so-called auto-antibodies to type 1 interferons (type 1 interferons are the first line of defence against COVID) or having mutations in genes that are involved in production and function of type 1 interferons.

Being healthy is good. But healthy people are still getting sick. Its not a panacea.

Interestingly, Tangye adds that there are people who naturally have this type 1 interferon pathway turned up a little bit: That can be pathogenic they can get these inflammatory diseases that dont have a defined triggerthese non-infectious, spontaneous flares for no good reason but people with those conditions may well have some resistance to COVID just because they have that innate immune response primed.

These people account for only a fraction of never COVIDs. For the rest, it seems to come down to a combination of immunity, genetics, environment and luck.

Being healthy all round puts you in better shape against infectious diseases and lifestyle disease, says Tangye. Being healthy is good. But healthy people are still getting sick. Its not a panacea.

Most of us may not be able to do much to avoid the virus, but we can still look to never COVIDs for some answers.

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If we can identify genetic reasons why people dont get COVID, it may help inform ways by which SARS COV2 enters or attacks our cells remember viruses are hopeless on their own. They need all the machinery of our cells to be disease-causing, explains Tangye.

So if we can disrupt the human cell processes without too many adverse events we could be better at stopping viral infection.

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Havent had COVID yet? Its got to do with more than your T cells - WAtoday

It could be in their genes, posits Tangye.

Genetic influences are either making people vulnerable to really severe disease but may also contribute to resistance there are populations of people who probably should have been infected and sick but werent.

Exactly which genes have a protective effect is part of an international research project called the COVID Human Genetic Effort, that Christodoulou is involved with.

We are collecting information and DNA from individuals who have been hyperexposed to COVID but who dont seem to contract COVID for example, living in a household where multiple family members were infected, but one member of the household wasnt to see if genetic factors can be identified that might offer protection against COVID infection, says Christodoulou, who is also the chair of Genomic Medicine at the University of Melbourne.

While researchers keep searching for the genetic clues, a new study published at the end of April, found booster shots can increase the range of immune cells, called memory B cells, making them more effective at neutralising COVID.

With any infection or vaccination, our body responds and then forgets the virus, explains Tangye, but becomes better at responding with repeated exposure. The first and second doses are like the training, getting your immune system into good shape and ready to take off and the third really gives you the protection you are primed and ready to go.

Loading

So if someone who has recently been vaccinated is exposed to COVID, they may be protected. If they have been boosted, this may provide even more protection, at least for a time.

The degree of exposure how long we were in contact with someone and whether we were inside or out will also make a difference, as will our behaviour.

People have become much more cognisant of social distancing and washing their hands and wearing masks. There are those non-pharmaceutical interventions people have embraced, Tangye says.

As for how healthy you are generally, that unfortunately wont make us resistant to catching COVID.

We regularly hear of otherwise young, fit and healthy individuals contracting very severe COVID, says Christodoulou. For those otherwise healthy people we know that there are some factors that are associated with this, e.g., having so-called auto-antibodies to type 1 interferons (type 1 interferons are the first line of defence against COVID) or having mutations in genes that are involved in production and function of type 1 interferons.

Being healthy is good. But healthy people are still getting sick. Its not a panacea.

Interestingly, Tangye adds that there are people who naturally have this type 1 interferon pathway turned up a little bit: That can be pathogenic they can get these inflammatory diseases that dont have a defined triggerthese non-infectious, spontaneous flares for no good reason but people with those conditions may well have some resistance to COVID just because they have that innate immune response primed.

These people account for only a fraction of never COVIDs. For the rest, it seems to come down to a combination of immunity, genetics, environment and luck.

Being healthy all round puts you in better shape against infectious diseases and lifestyle disease, says Tangye. Being healthy is good. But healthy people are still getting sick. Its not a panacea.

Most of us may not be able to do much to avoid the virus, but we can still look to never COVIDs for some answers.

Loading

If we can identify genetic reasons why people dont get COVID, it may help inform ways by which SARS COV2 enters or attacks our cells remember viruses are hopeless on their own. They need all the machinery of our cells to be disease-causing, explains Tangye. So if we can disrupt the human cell processes without too many adverse events we could be better at stopping viral infection.

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Are COVID-resistant people healthier or is it in their genes? - News Azi

image:Researchers at North Carolina State University have demonstrated that neuron-like cells derived from human stem cells can serve as a model for studying changes in the nervous system associated with addiction. The work sheds light on the effect of dopamine on gene activity in neurons, and offers a blueprint for related research moving forward. This image shows stem cell-derived medium spiny-like neuron morphology highlighted by the green fluorescent protein GFP and neuron marker MAP2 in red. view more

Credit: Ryan Tam, NC State University

Researchers at North Carolina State University have demonstrated that neuron-like cells derived from human stem cells can serve as a model for studying changes in the nervous system associated with addiction. The work sheds light on the effect of dopamine on gene activity in neurons, and offers a blueprint for related research moving forward.

It is extremely difficult to study how addiction changes the brain at a cellular level in humans nobody wants to experiment on somebodys brain, says Albert Keung, corresponding author of the study and an assistant professor of chemical and biomolecular engineering at NCState. What weve done here demonstrates that we can gain a deep understanding of those cellular responses using neuron-like cells derived from human stem cells.

At issue is how cells in our nervous system respond to drugs that are associated with substance abuse and addiction. Our bodies produce a neurotransmitter called dopamine. Its associated with feelings, such as pleasure, that are related to motivation and reward. When neuronal cells in the brains reward pathway are exposed to dopamine, the cells activate a specific suite of genes, triggering the feelings of reward that can make people feel good. Many drugs from alcohol and nicotine to opioids and cocaine cause the body to produce higher levels of dopamine.

In experiments using rodents, researchers have shown that when relevant neuronal cells are exposed to high levels of dopamine for an extended period of time, they become desensitized meaning the cells gene activation is less pronounced in response to the dopamine, Keung says. This is called gene desensitization. However, until now, it hasnt been possible to do an experimental study using human neuronal cells.

Our work here is the first experimental study to demonstrate gene desensitization in human neuronal cells, specifically in response to dopamine, says Ryan Tam, first author of the study and a Ph.D. student at NCState. We dont have to infer that it is happening in human cells; we can show that it is happening in human cells.

In their study, Tam and Keung exposed neuron-like cells derived from human stem cells to varying levels of dopamine for varying periods of time. The researchers found that when cells were exposed to high levels of dopamine for an extended period of time, the relevant reward genes became significantly less responsive.

This is an interesting finding, but its also a proof of concept study, Tam says. Weve demonstrated that gene desensitization to dopamine occurs in human cells, but there is still a lot we dont know about the nature of the relationship between dopamine and gene desensitization.

For example, could higher levels of dopamine cause desensitization at shorter time scales? Or could lower levels of dopamine cause desensitization at longer time scales? Are there threshold levels, or is there some sort of linear relationship? How might the presence of other neurotransmitters or bioactive chemicals affect these responses?

Those are good questions, which future research could address, says Keung. And weve demonstrated that these neuron-like cells derived from human stem cells are a good model for conducting that research.

The paper, Human Pluripotent Stem Cell-Derived Medium Spiny Neuron-like Cells Exhibit Gene Desensitization, is published open access in the journal Cells. The work was done with support from an NIH Avenir Award in Genetics and Epigenetics of Substance Abuse, under grant number 1DP1DA044359. The Avenir Award program represents the National Institute onDrug Abuse's commitment to supporting researchers who represent the future of addiction science.

Experimental study

Cells

Human Pluripotent Stem Cell-Derived Medium Spiny Neuron-like Cells Exhibit Gene Desensitization

21-Apr-2022

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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Stem cell-derived model provides insights on gene activity and addiction - EurekAlert

It's been a big month for Perseverance. In addition to reaching Jezero Delta and breaking distance records, (per Space), it also captured the best ever recording of a solar eclipse from the surface of the red planet.

On April 2, 2022, Mars's moon Phobos passed in front of the Sun, looking an awful lot like the slowly wandering eye of Sauron. In addition to just looking really cool, the observations can help scientists to better understand the gravitational relationship between Mars and its two moons, (per NASA).

Perseverance used its Mastcam-Z camera system which is intended to take panoramic and 3D images of the Martian environment while the rover makes its way along the surface. While NASA has captured several eclipses from the Martian surface in the past, going all the way back to Spirit and Opportunity, the Mastcam-Z provided full color, the highest zoom, and best frame rate to date.

As explained by NASA, Phobos is only about 17 miles across at its widest point and it moves pretty fast, orbiting Mars three times per day. As a result, the eclipse was relatively brief, lasting only about 40 seconds.

It's good that we're getting these images while we can. The gravitational relationship between Mars and Phobos is such that eventually, the moon will crash to the planet's surface. Luckily, that won't happen for tens of millions of years.

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The 12 Coolest Scientific Discoveries Of April 2022 - SlashGear

Scientists have studied the full genetic information of more than 18,000 cancer samples. They found new information about the patterns of mutations, or changes, that could help doctors provide better treatment.

Their study, which appeared recently in the publication Science, is not the first to do such a complete genetic study of cancer samples. But no one has ever used such a large sample size.

Serena Nik-Zainal of the University of Cambridge was part of the team that did the research. She said this was the largest cohort in the world. It is extraordinary."

Over 12,000 samples in the study came from patients recruited by Britains National Health Service. They were part of a project to study whole genomes from people with common cancers and rare diseases. The rest of the data came from existing cancer data sets.

Researchers were able to study such a large number because of the same improvements in technology that recently permitted scientists to complete the map of the entire human genome.

Andrew Futreal, a genomic expert at MD Anderson Cancer Center in Houston, was not involved in the study. He said the study gives scientists some knowledge of the destructive forces that cause cancer.

Cancer is a disease of the genome or full set of instructions for running cells. It happens when changes in a persons DNA cause cells to grow and divide uncontrollably. DNA is a substance that carries the genetic information in the cells of living things, like a human. In 2020, there were about 19 million new cancer cases worldwide.

For the study, researchers looked at 19 different kinds of cancer in the human body. It identified 58 new mutational signatures, or pieces of evidence leading to the causes of cancer. Nik-Zainal said researchers also confirmed 51 of more than 70 previously reported mutation patterns. Some arise because of problems within a persons cells; others are caused by ultraviolet radiation, tobacco smoke, or chemicals.

Knowing more of them helps us to understand each persons cancer more precisely, which can help guide treatment, Nik-Zainal said.

Genetic sequencing, the process used to study the makeup of a cell, is already being included in cancer care. It is part of the growing move toward personalized medicine, or care based on a patients genes and specific disease. Now doctors will have much more information to draw from when they look at individual cancers.

To help doctors use this information, researchers developed a computer program that will let them find common mutation patterns and seek out rare ones. Nik-Zainal said doctors could suggest a treatment based on a special pattern.

Futreal said the data can also show doctors what tends to happen over time when a patient develops a cancer with a certain mutation pattern. This will help doctors give earlier treatment and hopefully stop the developing disease.

Im John Russell.

Laura Ungar reported on this story for the Associated Press. John Russell adapted it for VOA Learning English.

____________________________________________________________________

sample n. a group of people or things that are taken from a larger group and studied, tested, or questioned to get information

pattern n. the regular and repeated way in which something happens

mutation n. a change in hereditary material

cohort n. a group of individuals having something (usually a statistical factor) in common in a study

genome n. the complete set of genes in a cell or organism

DNA n. a substance that carries genetic information in the cells of plants and animals

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Study of Cancer Genetics to Help with Targeted Treatment - VOA Learning English

Jonathan Cohen, Ph.D.

DALLAS May3, 2022 The National Academy of Sciences (NAS) today elected UTSouthwestern scientist Jonathan Cohen, Ph.D., into its membership, one of the highest honors for American scientists. Dr. Cohen, Professor of Internal Medicine in the Center for Human Nutrition and the Eugene McDermott Center for Human Growth and Development at UTSouthwestern, was elected by his peers in recognition of distinguished and continuing achievements in original research. His research centers on identifying genes that play major roles in the metabolism of cholesterol and triglycerides and elucidating the biological roles of their protein products.

The election of Dr. Cohen to the prestigious National Academy of Sciences recognizes the pioneering contributions that he has madein elucidating the genetic basis of chronic conditions including heart disease, liver disease, and obesity, said Daniel K. Podolsky, M.D., President of UTSouthwestern. As a member of the Academy, he will advance its mission of providing independent, objectiveadvice to the nation on matters related to science and technology.

Dr. Cohen was among 120 new U.S. and 30 nonvoting foreign members announced today. UTSouthwestern now has 26 members of the National Academy of Sciences, more than any institution in Texas and the most at any time in UTSouthwestern's nearly 80-year history.

This latest election is a testament to the caliber and expanse of science taking place at UTSouthwestern and will serve as an inspiration to new generations of trainees and scientists that will continue the long tradition of discovery that we embody here, said W. P. Andrew Lee, M.D., Executive Vice President for Academic Affairs, Provost, and Dean of UTSouthwestern Medical School.

Dr. Cohen joined UTSouthwestern as a postdoctoral fellow in 1989 and worked first with Scott Grundy, M.D., Ph.D., Professor of Internal Medicine in the Center for Human Nutrition, where his research focused on lipid metabolism in humans. Realizing that he needed training in genetics to accomplish his goals, he also trained with Helen Hobbs, M.D., who has long focused on defining the genetic determinants of plasma lipid levels and cardiovascular risk.

In 2000, Dr. Cohen and Dr. Hobbs combined forces and joined with the late Ronald Victor, M.D., to design the Dallas Heart Study, a longitudinal, multiethnic, population-based study of more than 3,500 Dallas County residents. They set out to discover new genetic factors that contribute to variations in the levels of cholesterol in the blood, especially LDL cholesterol, often referred to as bad cholesterol. High levels of LDL cholesterol in the blood increase the risk of a heart attack. They asked if individuals who had low cholesterol levels their entire lives due to a genetic difference would be protected from heart disease.

At the time they initiated their studies, it was generally regarded that common diseases are caused by genetic differences that are frequent. The way to identify such genetic differences is to test thousands of common sequence variations using a strategy called genomewide association studies (GWAS). Drs. Cohen and Hobbs took a different approach. They reasoned that identifying uncommon sequence differences that were likely to have large effects would be more informative.

In the Dallas Heart Study, they found that mutations in a gene called PCSK9 were associated with marked reductions in plasma levels of LDL cholesterol. Moreover, individuals with these mutations were protected from heart disease. These findings formed the basis for the rapid development of a new class of cholesterol-lowering agents that target PCSK9. They used a similar approach to identify other genes that alter plasma levels of cholesterol and triglycerides, leading to the development of a second lipid-lowering therapy.

In addition, the Hobbs-Cohen lab identified the first genetic risk factor for fatty liver disease both nonalcoholic and alcoholic. This increasingly common disorder will soon overtake hepatitis C as the No.1 indication for liver transplantation.

Dr. Cohen grew up in South Africa and earned his Ph.D. in physiology at the University of Cape Town. In 2015, Dr. Cohen was recognized with the Barbara Bowman Distinguished Texas Geneticist Award, and in 2016, he and Dr. Hobbs received the Passano Award, given for exemplary research that leads to real-world applications.

Other UTSouthwestern faculty who are members of the NAS, and the years they were elected, are: Michael Brown, M.D., and Joseph Goldstein, M.D., both in 1980; Jonathan Uhr, M.D., 1984; Steven McKnight, Ph.D., 1992; Ellen Vitetta, Ph.D., 1994; Johann Deisenhofer, Ph.D., 1997; Eric Olson, Ph.D., 2000; Joseph Takahashi, Ph.D., and Masashi Yanagisawa, M.D., Ph.D., both in 2003; Melanie Cobb, Ph.D., and David W. Russell, Ph.D., both in 2006; Helen Hobbs, M.D., 2007; Bruce Beutler, M.D.and David Mangelsdorf, Ph.D., both in 2008; Luis Parada, Ph.D., 2011; Zhijian James Chen, Ph.D., 2014; Lora Hooper, Ph.D., and Steven Kliewer, Ph.D., both in 2015; Joan W. Conaway, Ph.D., Sean Morrison, Ph.D., Kim Orth, Ph.D., Mike Rosen, Ph.D., and Sandra Schmid, Ph.D., all in 2020; and Donald Hilgemann, Ph.D., and Margaret Phillips, Ph.D., both in 2021.

Dr. Cohen holds the C. Vincent Protho Distinguished Chair in Human Nutrition Research.

Dr. Hobbs holds the [1995] Dallas Heart Ball Chair in Cardiology Research; the Philip OBryan Montgomery Jr., M.D., Distinguished Chair in Developmental Biology; and the Eugene McDermott Distinguished Chair for the Study of Human Growth and Development.

Dr. Lee holds the Atticus James Gill, M.D. Chair in Medical Science.

Dr. Podolsky holds the Philip OBryan Montgomery, Jr., M.D. Distinguished Presidential Chair in Academic Administration, and the Doris and Bryan Wildenthal Distinguished Chair in Medical Science.

About UTSouthwestern Medical Center

UTSouthwestern, one of the nations premier academic medical centers, integrates pioneering biomedical research with exceptional clinical care and education. The institutions faculty has received six Nobel Prizes, and includes 26 members of the National Academy of Sciences, 17 members of the National Academy of Medicine, and 14 Howard Hughes Medical Institute Investigators. The full-time faculty of more than 2,900 is responsible for groundbreaking medical advances and is committed to translating science-driven research quickly to new clinical treatments. UTSouthwestern physicians provide care in more than 80 specialties to more than 100,000 hospitalized patients, more than 360,000 emergency room cases, and oversee nearly 4 million outpatient visits a year.

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UTSW geneticist Jonathan Cohen elected to the National Academy of Sciences - UT Southwestern

Oncologist Eduardo Vilar-Snchez.NCI

If a vaccine can reduce the severity of Covid-19 in a person infected with the virus that causes it, why cant the same be achieved with cancer, which kills some 10 million people a year?

In a few months, oncologist Eduardo Vilar-Snchez will test exactly this theory when he trials a vaccine for hereditary colon tumors that could benefit the general population.

A graduate of Barcelonas Vall dHebron Hospital, Vilar-Snchez works in the department of Clinical Cancer Prevention at the MD Anderson Cancer Center (Houston, USA) where he studies rare diseases caused by genetic mutations that are inherited from generation to generation in the same family. His patients include people with Lynch syndrome who have an 85% chance of developing colon cancer in their lifetime; 17 times more than the general population. The doctor also treats people affected by familial adenomatous polyposis (an inherited colon cancer), who have a 100% chance of developing the same tumor before their 30th birthday.

Vilar-Snchez hopes the vaccine he is developing for Lynch syndrome can also help prevent cancer in others. He spoke to EL PAS following a recent symposium of the Spanish Association of Human Genetics.

Question: Scientists have been researching cancer vaccines for decades. Why hasnt one been found?

Answer: We do have vaccines against cancers brought on by viruses, such as human papilloma or hepatitis C. In these cases, the virus is a foreign entity, so it is much easier to create a vaccine.

By contrast, cancer cells come from ourselves; they are more like our own cells than anything else. To develop a vaccine, we look for a particular protein that is expressed in the cells of the cancerous tumor, but we have to be very sure the vaccine does not get into any other organ because we can cause a deadly autoimmune reaction.

Q. If its so complicated, why keep trying?

A. Before, we had to research gene by gene, protein by protein. Now, with massive genome sequencing techniques, we can see everything at once and look for those abnormal proteins that are exclusive to the tumor. These massive analyses of proteins were not possible until a few years ago.

Even so, cancer has a thousand faces colon cancer for example is nothing like brain or bladder cancer. Finding a generic vaccine to try to intercept all cancers is very, very challenging.

Q. How does your vaccine work?

A. When our cells replicate naturally, they generate a new strand of DNA copied from the original cell. Copy errors are made in this process, but there are systems that correct them with great efficiency. Patients with Lynch syndrome have a deactivated DNA repair system, known as mismatch. In these patients, the copy errors of the replication process are not corrected. They end up accumulating a series of mutations that produce an abnormal peptide, which is a molecule that does not exist in normal tissues. This gives us an opportunity to develop a vaccine.

Q. How?

A. We looked for peptides shared by the majority of patients; people who have had tumors of the colon, endometrium, stomach, or urinary tract. This summer, together with Nouscom, the company that has developed the vaccine, we are going to start the first phase of trials with some 45 patients.

Q. If proven effective, could this vaccine also serve the general population?

A. For a rare disease, the prevalence of Lynch syndrome is considerable: in the US alone there are one million patients. In general, 15% of people with colon cancer [i.e. not just those who have Lynch syndrome] also have damage to their DNA repair system, as do 20% of people with endometrial cancer and 5% with bladder and stomach cancer. If the vaccine [for Lynch syndrome] could be extrapolated [to the people in these situations], yes, it could potentially benefit many people who do not have the hereditary disease.

Q. And this vaccine is capable of preventing cancer before it appears?

A. Colon cancer develops from a polyp, which is a collection of premalignant cells. Sometimes the immune system identifies them and eliminates them. Other times, it does not turn into a tumor. The key is to look for the abnormal proteins in the polyps that do give rise to tumors, and [target them with the vaccine, through which] either the immune system freezes the growth of that polyp or eliminates it.

Q. You lead a project to define what precancer is. Tell us about it?

A. Thanks to projects such as the Cancer Genome Atlas, we now know about mutations in different tumors. We are yet to know which mutations are present in a premalignant [pre-cancerous] lesion, such as a polyp perhaps this is where we will find the answer to stopping the development of a tumor using vaccines or chemical compounds.

In the US, the National Cancer Institute (NCI) is doing something very similar in [researching vaccines for] tumors of the respiratory tract and digestive system.

The future of curing cancer lies in prevention. We are already greatly increasing survival and quality of life with current cancer treatments. There are tumors that, thanks to immunotherapy, are treated successfully, but the reality is that the cure will only come through prevention with vaccines or drugs. The [NCIs] precancer atlas is a preliminary step to achieve this.

Q. Do you think there will one day be preventive vaccines against cancer?

A. I want to be [cautiously] optimistic: much progress is being made, and rapidly; there are more resources right now with the explosion in immunology that has occurred with covid. I think we will see them [preventive vaccines] there will be very specific vaccines for each tumor.

Q. As a specialist, how do you explain the increase in cases of colon cancer among young people?

A. The problem is that screening strategies help to detect classic, so to speak, colon cancer the one we know best and that appears at older ages very well. [But now], early-age cases are growing a lot.

There is a lot of interest in this. We have a project in our hospital analyzing the molecular characteristics of [cancerous colon] tumors in young people. For now, at this molecular level, we do not see clear features [that distinguish the early-age cancers from those that occur in older age].

I think that this spike [in cases of colon cancer among younger people] is actually explained by our sedentary lifestyle in Western economies, and how our food is generated; how we feed ourselves.

Edited by Ann Deslandes.

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The future of curing cancer lies in prevention - EL PAS in English

On 27 April, the Progress Educational Trust (PET), a charity with the aim of advancing the public understanding of science, law and ethics in the fields of human genetics, assisted reproduction, embryology and stem cell research, ran an online debate on the powers of the Human Fertilisation and Embryology Authority (HFEA).

The session titled 'Authority over Assisted Reproduction: What Powers Should the HFEA Have?', welcomed speakers from across the world of IVF including from the HFEA itself and a patient advocate. Current powers of the HFEA under the HFE Act were discussed, as well as whether these should be extended or pared back in light of the thirty odd years that have gone by since the advent of the HFE Act.

It is clear that the HFEA believes its powers should be expanded to address, among other things, the numerous scientific and technological advances in the area of IVF and the need for sanctions imposed by the HFEA to be proportionate to the specific breaches of the regulations (this would include the power to impose fines). However, several speakers from private clinics voiced their concerns with regard to the clinical expertise of the HFEA and whether the HFEA is capable of effectively assessing cutting-edge technology or carrying out a detailed assessment of the clinical capabilities and compliance of HFEA-regulated clinics.

This session was the first of two events organised by PET and focused on updating the HFE Act. The second event, titled 'Fertility Frontiers: What Is a "Permitted" Embryo in Law?', is scheduled for Wednesday 25 May 2022 and my colleague, Of Counsel Julian Hitchcock, will be speaking. Registration is free and we look forward to another lively debate on a fascinating area of life sciences regulation.

In the UK, fertility treatment and embryo research have a dedicated statutory regulator, the Human Fertilisation and Embryology Authority (HFEA). The UK Government has signalled that the laws which define the HFEA's powers could be revised in the near future.

https://pet.secure.force.com/PETEvents/PETEve

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Updates to the Human Fertilisation and Embryology (HFE) Act - Lexology

- Multiple Presentations Feature HMI-103 Phase 1 Investigational Therapy for PKU, Including Genome-Wide Integration Assays to Confirm No Off-Target Editing -

- New Data from GTx-mAb Program Support Potential to Target Many Complement-Related Disorders -

- Presentations Feature the Discovery and Characterization of a Non-Liver-Tropic Capsid and Other Distinct Properties of Homologys Family of 15 Naturally Derived AAVHSCs -

- Symposium to be Held on May 18, 2022 at 7:30 a.m. ET-

BEDFORD, Mass., May 02, 2022 (GLOBE NEWSWIRE) -- Homology Medicines, Inc. (Nasdaq: FIXX), a genetic medicines company, announced today that the first presentation detailing the optimization and mechanism of action of its HMI-103 nuclease-free gene editing candidate for phenylketonuria (PKU) will take place during the American Society for Gene & Cell Therapy (ASGCT) 25th Annual Meeting May 16-19, 2022. The data to be presented, which include a genome-wide assay that detects on- and off-target gene integration, supported the initiation of the pheEDIT trial evaluating HMI-103 for PKU, the first gene editing study for this disease. New information from the Companys GTx-mAb program, including data that further characterize the expression of C5 antibodies from AAVHSCs, will also be shared. Additionally, details on Homologys family of 15 adeno-associated viruses derived from human hematopoietic stem cells (AAVHSCs) will be presented, including one demonstrating low tropism to the liver, and the unique properties that make them amenable to developing treatments for many genetic disorders.

Homology has focused on scientific and clinical innovation with the translation of our in vivo gene therapy and gene editing platform into one-time product candidates, and we believe that our approach to optimize nuclease-free gene editing to be unveiled at ASGCT is further evidence of our leadership in developing genetic medicines, said Albert Seymour, Ph.D., President and Chief Scientific Officer of Homology Medicines. Our team designed assays to ensure that we can scan the entire genome to detect on- and off-target events, and the preclinical data we plan to share confirm no evidence of off-target integration or unwanted mutations. Beyond the data backing our clinical programs and pipeline, we will report structural and functional analyses of our AAVHSCs including a novel capsid with low liver tropism, which further support their broad applicability and disease-specific capsid selectivity in developing treatments for other indications.

Homologys ASGCT 2022 presentations include:

In Vivo, Nuclease-Free Gene Editing Candidate HMI-103Sustained Correction of a Murine Model of Phenylketonuria and Integration into the Genome Following a Single Administration of an AAVHSC15 Phenylalanine Hydroxylase Gene Editing Vector

Genome-Wide and Directed Integration Assays Identify and Quantify rAAVIn VivoGene Editing Sites in Mice with Humanized Livers

GTx-mAb ProgramSustained Expression of C5mAb in Presence of Murine and Human FcRn

AAVHSC PlatformrAAV Vector Breakpoints Determined Using Single-Molecule, Modified Base Sequencing

Naturally Occurring Variations at the 501 and 706 Residues on AAVHSC16 Contribute to Reduced Liver Tropism and Slower Serum Clearance

The Structure of the 501 Residue on AAVHSC16 is Imperative to the Functional Binding to Cell Surface Glycans, Which is a Key Step in Successful Transduction

AAVHSC Capsid Selection StrategyCapsid Selection Strategy for the Development of Gene Therapies Based on Structural and Functional Analyses of a Panel of AAVHSCs

The abstracts are available on the ASGCT website.

Homology Symposium and WebcastIn conjunction with the ASGCT meeting, Homology will host a symposium on Wednesday, May 18, 2022 at 7:30 a.m. ET, including guest speaker Jerry Vockley, Ph.D., M.D., FACMG, Division Director, Genetic and Genomic Medicine, Professor of Pediatrics and Human Genetics, and Director, Center for Rare Disease Therapy at the University of Pittsburgh, and Lead Principal Investigator for the pheEDIT clinical trial. A webcast will also be accessible on Homologys website in the Investors section, and the replay will be available on the website for 90 days following the presentation.

About Homology Medicines, Inc.Homology Medicines, Inc. is a clinical-stage genetic medicines company dedicated to transforming the lives of patients suffering from rare diseases by addressing the underlying cause of the disease. The Companys clinical programs include HMI-102, an investigational gene therapy for adults with phenylketonuria (PKU); HMI-103, a gene editing candidate for PKU; and HMI-203, an investigational gene therapy for Hunter syndrome. Additional programs focus on metachromatic leukodystrophy (MLD), paroxysmal nocturnal hemoglobinuria (PNH) and other diseases. Homologys proprietary platform is designed to utilize its family of 15 human hematopoietic stem cell-derived adeno-associated virus (AAVHSCs) vectors to precisely and efficiently deliver genetic medicines in vivo through a gene therapy or nuclease-free gene editing modality, as well as to deliver one-time gene therapy to produce antibodies throughout the body through the GTx-mAb platform. Homology has a management team with a successful track record of discovering, developing and commercializing therapeutics with a focus on rare diseases. Homology believes its initial clinical data and compelling preclinical data, scientific and product development expertise and broad intellectual property position the Company as a leader in genetic medicines. For more information, visit http://www.homologymedicines.com.

Forward-Looking Statements This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding our expectations surrounding the potential, safety, efficacy, and regulatory and clinical progress of our product candidates; the potential of our gene therapy and gene editing platforms; our position as a leader in the development of genetic medicines; and our participation in upcoming presentations and conferences. These statements are neither promises nor guarantees, but involve known and unknown risks, uncertainties and other important factors that may cause our actual results, performance or achievements to be materially different from any future results, performance or achievements expressed or implied by the forward-looking statements, including, but not limited to, the following: the impact of the COVID-19 pandemic on our business and operations, including our preclinical studies and clinical trials, and on general economic conditions; we have and expect to continue to incur significant losses; our need for additional funding, which may not be available; failure to identify additional product candidates and develop or commercialize marketable products; the early stage of our development efforts; potential unforeseen events during clinical trials could cause delays or other adverse consequences; risks relating to the regulatory approval process; interim, topline and preliminary data may change as more patient data become available, and are subject to audit and verification procedures that could result in material changes in the final data; our product candidates may cause serious adverse side effects; inability to maintain our collaborations, or the failure of these collaborations; our reliance on third parties, including for the manufacture of materials for our research programs, preclinical and clinical studies; failure to obtain U.S. or international marketing approval; ongoing regulatory obligations; effects of significant competition; unfavorable pricing regulations, third-party reimbursement practices or healthcare reform initiatives; product liability lawsuits; failure to attract, retain and motivate qualified personnel; the possibility of system failures or security breaches; risks relating to intellectual property; and significant costs incurred as a result of operating as a public company. These and other important factors discussed under the caption Risk Factors in our Annual Report on Form 10-K for the year ended December 31, 2021 and our other filings with the SEC could cause actual results to differ materially from those indicated by the forward-looking statements made in this press release. Any such forward-looking statements represent managements estimates as of the date of this press release. While we may elect to update such forward-looking statements at some point in the future, we disclaim any obligation to do so, even if subsequent events cause our views to change.

Company Contacts:Theresa McNeelyChief Communications Officer and Patient Advocatetmcneely@homologymedicines.com781-301-7277

Media Contact:Cara Mayfield Vice President, Patient Advocacy and Corporate Communications cmayfield@homologymedicines.com 781-691-3510

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Homology Medicines Announces Upcoming Presentation on Optimized In Vivo Gene Editing Candidate HMI-103 with First Details of Unique Mechanism of...

Scientists analyzed DNA from more than 300,000 people with and without the psychiatric disorder

Schizophrenia is a serious psychiatric disorder that starts in late adolescence or early adulthood and affects around 1 in 300 people worldwide, according to the World Health Organization.

Ayman Fanous, MDIn a paper published April 8 in Nature, specific genes were identified that could play important roles in the psychiatric disorder. In the largest genetic study of schizophrenia, researchers including Ayman Fanous, MD, analyzed DNA from 76,755 people with schizophrenia and 243,649 without it to better understand the genes and biological processes underpinning the condition.

Previous research has shown associations between schizophrenia and many DNA sequence changes, but rarely has it been possible to link the findings to specific genes, said Dr. Fanous, chair of the Department of Psychiatry at the University of Arizona College of Medicine Phoenix. Dr. Fanous also serves as chair of Psychiatry at Banner University Medical Center Phoenix.

We have been able to link many of them to specific genes, a necessary step in what remains a difficult journey toward understanding the causes of this disorder and identifying new treatments.

Dr. Fanous contributed to the study as a member of the Psychiatric Genomics Consortium, which comprises hundreds of researchers across 45 countries.

The study found a much larger number of genetic links to schizophrenia than ever before in 287 different regions of the genome, the human bodys DNA blueprint.

The study is the largest genome-wide association project to date, and the research team identified a substantial increase in the number of genomic regions associated with schizophrenia. Within these regions, they then used advanced methods to identify 120 genes likely to contribute to the disorder.

Although there are large numbers of genetic variants involved in schizophrenia, the study showed they are concentrated in genes expressed in neurons, pointing to these cells as the most important site of pathology. The findings also suggest abnormal neuron function in schizophrenia affects many brain areas, which could explain its diverse symptoms that may include hallucinations, delusions and problems thinking clearly.

More than 7,000 people with either African American or Latino ancestries were included, which researchers say is a small step toward making sure advances that come from genetic studies can benefit people beyond those of European ancestries.

To better understand the complexities of the genome and the mutations that lead to psychiatric disorders, it is very important that we leverage the power of larger, more ethnically diverse datasets, said Dr. Fanous. We encourage people of all ancestries to participate in genetic studies and help uncover the genetic causes of these illnesses.

Data from the Centers for Disease Control and Prevention reveal that more than 50% of Americans will be diagnosed with a mental illness or disorder at some point in their lives. Serious mental illness, such as schizophrenia, affects 1 in 25 Americans.

The College of Medicine Phoenix is building a translational research ecosystem in neuroscience and mental health to serve the needs of communities in Arizona, said Guy Reed, MD, MS, dean of the UArizona College of Medicine Phoenix. We are immensely proud to have Dr. Fanous leading research initiatives in genetics and genomics, in partnership with the Phoenix VA Health Care System, to identify novel therapies that will provide personalized care for patients.

This global study, led by Cardiff University, sheds the strongest light yet on the genetic basis of schizophrenia.

The research reported in this press release was funded by the National Institute of Mental Health of the National Institutes of Health under award number U01MH109514. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Researchers Identify Specific Genes that Play Key Role in Schizophrenia | The University of Arizona College of Medicine - The University of Arizona...