Genetics

Did Homo sapiens really outcompete Neanderthals? Genetics is rewriting the story of human evolution – Genetic Literacy Project

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Did Homo sapiens really outcompete Neanderthals? Genetics is rewriting the story of human evolution - Genetic Literacy Project

Genetics

Genes and metastatic breast cancer: What role do they play? – Medical News Today

Metastatic breast cancer (MBC) refers to breast cancer that has spread beyond the breasts and nearby lymph nodes to other organs in the body. MBC is also known as advanced or stage 4 cancer.

MBC can develop after an initial diagnosis of earlier stage breast cancer. It is also possible for MBC to be a persons first diagnosis.

There is currently no cure for MBC, but there are many treatment options available that can slow the cancers growth.

This article explores the role that genes play in the development of MBC and how genetic testing is leading researchers to newer targeted treatments.

Mutations in genes can affect a persons susceptibility to breast cancer. Specifically, two categories of mutations germline mutations and somatic mutations may increase an individuals risk of developing breast cancer.

Germline mutations are present in every cell of the body. These mutations run in families, and a person may inherit them from a parent. About 510% of breast cancer cases develop because a person has a hereditary predisposition to breast cancer.

On the other hand, somatic mutations are changes that develop after birth. These changes occur in a single cell and in any cells that derive from that single cell if it divides. A person cannot inherit somatic mutations.

Some specific germline and somatic gene mutations may increase a persons risk of developing breast cancer that progresses to MBC.

We know about several germline mutations, like BRCA1 and BRCA2, that increase our risk [of] cancer. Often, the cancers that these mutations cause are more aggressive, so are at higher risk of metastasizing, explained Dr. Natasha B. Hunter, a board certified oncologist at Seattle Cancer Care Alliance in Washington.

We also know that tumors develop somatic mutations, some of which can increase their ability to evade immune detection or make them resistant to therapies, Dr. Hunter added.

Genetic testing does not yet play a role in the diagnosis or detection of MBC.

A doctor diagnoses MBC the same way they do other stages of breast cancer with laboratory tests, imaging tests, and biopsies.

However, research is ongoing into how genetic testing can help oncologists catch breast cancer just as it starts to spread beyond the affected breast.

We dont use genetic testing for the diagnosis or detection of MBC currently, said Dr. Hunter, but we hope that at some point we may be able to use highly sensitive detection methods that use DNA or other substances in the blood to detect early metastatic disease so that we could intervene and treat before the development of incurable MBC.

Genetic testing is useful for determining a persons risk of developing breast cancer in the first place.

There are strict criteria set forth by the National Comprehensive Cancer Network (NCCN) for breast cancer genetic testing, and they are generally the criteria the insurance companies use to establish testing guidelines, explained Dr. Susan Klugman.

Dr. Klugman is the director of reproductive and medical genetics with the Montefiore Health System and a professor at the Albert Einstein College of Medicine, both in New York City, NY.

The NCCN indicates genetic testing when a person:

The NCCN also states that doctors may consider genetic testing when a person has had multiple primary breast cancers and first received a diagnosis between the ages of 50 and 65 years.

They may also consider genetic testing when a person does not meet any of the other criteria but has a 2.5% to 5% chance of having a BRCA1 or BRCA2 cancer-causing gene mutation based on probability models.

[Individuals] found to have mutations or changes in certain genes pathogenic variants can opt for surveillance and medical therapy or prophylactic surgery prior to the onset of cancer, Dr. Klugman told Medical News Today.

The results of genetic testing can be valuable to family members as well.

Relatives who are of reproductive age [who] are planning to have a family, and have a genetic mutation, could consider preimplantation genetic testing after in vitro fertilization to avoid passing down the genetic mutation to offspring, Dr. Klugman added.

Standard treatments for MBC are drug therapies such as chemotherapy, immunotherapy, hormone therapy, and targeted drugs. Sometimes, doctors use a combination of these therapies. In other situations, a person may need to undergo surgery or radiation therapy.

The results of genetic testing influence treatment plans for MBC. Certain mutations make a person eligible to receive particular therapies. The detection of genetic mutations can help doctors design more tailored and effective treatment plans.

The tumors of patients with germline BRCA mutations can be particularly responsive to PARP inhibitors, which take advantage of the DNA repair issues that the BRCA mutation causes, said Dr. Hunter.

Patients with certain mutations in the tumor itself (somatic mutations) can also receive targeted therapies. For instance, patients whose tumors harbor PIK3CA mutations can receive a medication called alpelisib, Dr. Hunter added.

Genetic testing results can also qualify individuals for clinical trials in which they can access newer treatment options that they would not typically have access to in traditional clinical settings.

Current treatments for MBC can help slow the growth of tumors, improve symptoms, and extend survival, but the condition remains incurable. However, ongoing research into genetics may hold the key to a brighter outlook.

I think we are only seeing the tip of the iceberg in terms of our understanding of genetics, gene expression, and other molecular-level interactions in breast cancer, Dr. Hunter told MNT.

Right now, added Dr. Hunter, I think were seeing the most potential in continuous monitoring to detect early metastatic disease so that we could intervene and treat before the development of incurable MBC holding the potential for cure with early detection. But I think theres much more thats exciting on the horizon.

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Genes and metastatic breast cancer: What role do they play? - Medical News Today

Genetics

How animal farming may have created ‘perfect storm’ for pandemics – Medical News Today

In the wild, parasites and their animal hosts are engaged in a dynamic cooperation comprising reciprocal, adaptive genetic changes that naturally occur when two species interact.

As a result of continuous adaptations and counter-adaptations between the parasite and its host species, neither is able to gain a sustained advantage over the other.

Evolutionary biologists liken this evolutionary standoff to the race in Lewis Carrolls Through the Looking-Glass, which, as the Red Queen describes it, takes all the running you can do, to stay in the same place.

Stay informed with live updates on the current COVID-19 outbreak and visit our coronavirus hub for more advice on prevention and treatment.

However, according to Prof. Cock Van Oosterhout, a professor of evolutionary genetics at the University of East Anglia in the United Kingdom, this is a race that humanity is losing.

In an editorial in the journal Virulence, he warns that our highly bred livestock cannot keep pace with the evolution of parasites, such as viruses, due to the animals lack of genetic diversity.

As a result, livestock act as mixing vessels for the emergence of new infectious diseases that can then make the leap from animals to humans.

In combination with habitat destruction, the illegal wildlife trade, and mass migration of both animals and people, Prof. Van Oosterhout says this has created a perfect storm for the development of pandemics, such as COVID-19.

He concludes that emerging infectious diseases are possibly the greatest existential threat to humanity.

As a result of centuries of selective breeding, livestock animals are severely inbred, writes Prof. Van Oosterhout, who is the deputy director of the Earth and Life Systems Alliance.

Despite a total biomass of livestock being 10 times that of all wildlife on Earth, research suggests that these breeds effective population size that is, a measure of a populations genetic diversity and viability is 80 times lower than that of the minimum viable population for a free-living species.

With so little genetic variation, livestock cannot evolve to meet the challenges that new pathogens pose.

Prof. Van Oosterhout writes:

Given the extraordinarily high biomass of our livestock (and us humans), the momentary fitness gains that parasites could accomplish by exploiting this plentiful resource are truly astronomical. Parasites and pathogens will continue to adapt to exploit these resources, and it is high time we recognize[d] this evolutionary inevitability.

He believes that everyone will need to make concessions to safeguard the future well-being of our species.

To minimize the threat from future pandemics and the ongoing COVID-19 pandemic, he proposes three broad strategies:

Gene flow is the mixing of different populations gene pools as a result of the movement of plants, animals, humans, and their associated pathogens.

This genetic mixing provides opportunities for the spread of disease and the emergence of new infections.

Technology that allows virtual working is a straightforward and relatively painless way to control gene flow, Prof. Van Oosterhout writes.

However, he acknowledges that other measures will involve policymakers making trade-offs between the benefits of economic growth, well-being, and education, and potential costs to human health and the environment.

He proposes that governments need to consider more controversial measures, such as compulsory vaccination and vaccine passports.

Sadly, this might be the price we have to pay for trailing in the Red Queen arms race, he writes.

Importantly, implementing these urgent changes requires us to carefully negotiate a wide range of legal and ethical issues that could inadvertently discriminate or exacerbate existing inequalities, he adds.

Prof. Van Oosterhout writes that, in order to track gene flow, governments must dedicate more resources to sequencing the viruses that make their home in wildlife and livestock.

An estimated 1.67 million viral species have yet to be discovered from mammal and bird hosts, and the costs of sequencing viruses with the highest zoonotic potential may be great (~1.2 to 7 billion US dollars), but they are dwarfed by the cost of another pandemic.

Habitat destruction is known to promote the emergence of new infectious diseases. Therefore, it will also be necessary to halt the loss of natural habitats in order to minimize the gene flow, he writes.

Prof. Van Oosterhout claims that livestock has become a sitting duck in the arms race with emerging infectious diseases as a result of extremely low genetic diversity.

Unless we act now, massive losses of crops and livestock are an evolutionary inevitability, he writes.

Fortunately, he says, much of the diversity that was once part of livestock and crops is still present in wild varieties and relatives of these animals and plants, and dispersed among different breeds.

While mass food production has underpinned our success as a species, it is unsustainable on environmental, ecological, and evolutionary grounds, he writes.

We urgently need to reduce our reliance on animal protein, in particular the consumption of other mammals, he says.

He claims that, in contrast to fish, for example, mammals pose the greatest threat for the evolution and transmission of new infectious diseases because they are the most closely related to humans.

In addition, he notes that the use of antibiotics to enhance growth and control infections has led to new, more virulent, and more resistant microorganisms.

Prof. Jonathan Stoye of the Francis Crick Institute in London, U.K., studies the evolutionary arms race between viruses, such as HIV, and their hosts. Both HIV and SARS-CoV-2 jumped from animals to humans.

While acknowledging the dangers posed by infections that originate in animals, such as COVID-19, he told Medical News Today:

I think we need to be very careful about talking of existential threats, particularly in the context of a virus that kills less than 2% of those infected. Overall, I believe that ecological changes resulting from altered land use or deforestation pose a much greater threat than the theoretical risks associated with inbreeding of potential intermediate hosts.

For live updates on the latest developments regarding the novel coronavirus and COVID-19, click here.

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How animal farming may have created 'perfect storm' for pandemics - Medical News Today

Genetics

Q&A: What is asthma and how is it diagnosed in children? – The Irish Times

What causes asthma?

Asthma is an inflammatory disorder of the bronchial airways produced by allergies, viral respiratory infections and airborne irritants. The root cause is unknown but it seems that a combination of genetics and environment determines who is affected.

There was a very significant increase in the global incidence of asthma in the latter half of the 20th century, which seemed to level off, or even decrease, in the last decade, says Dr Marcus Butler, a respiratory consultant and medical director of the Asthma Society (asthma.ie). This trend would indicate that genetics is not the dominant factor.

What are the symptoms?

In children, its typically wheezing. They can also get a sudden increase in coughing that wont go away. As they get older, children can explain the sensation of tightness in the chest.

Symptoms tend to get worse at night in asthma, says Butler, but other things can cause that too. Its important to take the child to the GP if you have any concerns.

How is childhood asthma diagnosed?

There isnt one simple diagnostic test for asthma so its a condition that is fraught with misdiagnosis, particularly so in paediatric diagnosis, he explains. That is why in the case of children, its recommended that a diagnosis is not made until the age of six onwards.

The majority of wheeze-type conditions in the early years tend to disappear and are probably respiratory viruses rather than allergic asthma. However, some children have very classic asthma symptoms triggered by allergies before the age of six, in which case a confident diagnosis can be made.

The diagnosis requires the demonstration of excessive variability in breathing tests at different times. When people who dont have asthma are asked to blow as hard they can into a measuring device, the results will always be much the same. Whereas for people with asthma, affected by swelling in the lungs, the measurements will sometimes be much lower.

How is it treated?

For young children, medication to control symptoms is administered through an inhaler using a spacer device, which means the drug can be easily inhaled through a mask without them having to co-ordinate their breathing with the pressing of an inhaler. Theyre safe when we use the lowest effective dose. It is really important to have a written asthma action plan that will guide that treatment, says Butler.

The use of such a plan has been effective in reducing the death rate, by getting diagnosis early and starting treatment early. It is also important, he says, that patients are warned about the overuse of short-acting reliever inhalers. These are medications that dont alter the swelling of asthma at all, they just widen the airways temporarily. They can give false reassurance to a patient who will feel better symptom-wise for a short period of time after taking these and they are also so much cheaper than other medications.

This can start a vicious cycle of relying on the reliever medication and not using the preventer medication, which we would much rather happens.

Using more than 12 reliver inhalers a year, ie one a month, is a risk factor for death for asthma, he warns. Inhaler technique is also a big issue, as it requires time and effort to learn to use one correctly. Asthma only improves when the drug reaches its intended destination regularly, deep in the lungs, so inhaler technique is key to that happening.

Are deaths preventable?

There are some cases where, no matter what, death will still happen, says Butler. However, the Asthma Society aims to reduce the number of deaths in Ireland by half by 2025, through education and awareness-raising at patient, practitioner and policy levels. Asthma deaths among all ages rose to 63 in 2016, from a 10-year low of 39 in 2012. A review of six of 13 asthma paediatric deaths from 2006-2016 by Dr Des Cox, consultant in paediatric respiratory medicine in CHI at Crumlin, to be published in the Irish Medical Journal, found common factors among those deaths included: they were mostly adolescents, there was a sudden onset of the asthma attack; the patients did not have an Asthma Action Plan or it was out of date; they had not had structured reviews and none had seen a doctor recently.

For more information, see asthma.ie; or ring the free Asthma Adviceline 1800 44 54 64.

1 in 10 children currently has asthma.1 in 5 children experiences asthma at some stage in their life.5 The average number of school days a child with asthma misses every year.8,000 The number of asthma admissions (child and adult) to hospital every year.4 minutes How often someone in Ireland visits an emergency department due to asthma.Source: Asthma Society of Ireland

Read:It wasnt just asthma

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Q&A: What is asthma and how is it diagnosed in children? - The Irish Times

Genetics

Nearsightedness is on the rise in children, and it’s not because of genetics – KHOU.com

In the United States alone it has gone from 25% of the population in the 70s to 42% now.

HOUSTON You know how kids dont play outside as much as they used to? Well, now experts say that trend has an unusual side effect: childrens eyesight is getting worse.

An increase in kids

Nearsightedness, also called myopia, is on the rise in kids. Thats when you can see up close objects clearly, but things that are far away are fuzzy.

It can be caused by genetics and the environment. But experts say myopia has increased so rapidly that it cant be blamed on genetics. In the United States alone it has gone from 25 percent of the population in the 70s to 42 percent. In southeast and east Asia, its estimated 80 to 90 percent of high schoolers are nearsighted.

Less sunlight is hurting eyes

So whats causing this increase? It might seem easy to blame all that screen time kids have these days. But experts say that is not the direct reason. Its actually because children are getting less natural light. Researchers say exposure to daylight and focusing on things far away outside can delay the onset of myopia. And the pandemic has made things worse. New research shows the eyesight of children quarantined during the onset of coronavirus deteriorated rapidly.

Take more breaks and get more outside time

There is something you can do about it. Experts say its not practical to take away screens altogether but you can impose some rules. They recommend a practice called 20-20-20. Thats where you take regular breaks every 20 minutes to look at something 20 feet away for 20 seconds. And of course, more time outside could make a real difference.

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Nearsightedness is on the rise in children, and it's not because of genetics - KHOU.com

Embryology

FILM: Sarah Norcross in conversation with Sally Cheshire – BioNews

10 May 2021

This film documents an in-depth conversation between Sarah Norcross (director of the Progress Educational Trust, the charity that publishes BioNews) and Sally Cheshire (outgoing chair of the UK's fertility regulator Human Fertilisation and Embryology Authority).

If you cannot see the film below, click here to view it.

During this conversation Sarah Norcross refers to the following events, films of which can be watched on BioNews:

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FILM: Sarah Norcross in conversation with Sally Cheshire - BioNews

Embryology

3rd-Grade Teacher In Washington County Uses Creativity To Stand Out – CBS Pittsburgh

WASHINGTON COUNTY, Pa. (KDKA) A teacher in Washington County is using creativity to engage her students and stand out among the crowd.

KDKAs Amy Wadas traveled to Washington County to met Danielle Berdar, a third-grade math, science and social studies teacher at Beth-Center Elementary.

(Photo Credit: KDKA)

Berdar says its all about creativity, which makes learning more interesting for her students.

The science lesson we are doing right now is on embryology. So we are going to be hatching baby chicks in our classroom. Thats always an exciting third-grade project, said Berdar.

I just want to make sure that the students are loving coming to school. Thats most important to me because if they love coming to school, then the learning will come, added Berdar.

Principal Zach Just says its the creativity that makes her stand out.

Theres nothing she wont do to get them to understand the material, said Just.

That includes her ability to go the extra mile.

On each students desk, theres little desk pets. Danielle went and did a DonorsChoose and got people to donate so each kid could have their own desk pet. They get rewards with it, said Just.

What do Berdars students have to say about their teacher?

She always has something fun planned. Shes always funny and shes kind, said Rylee Welsh.

We did these and you had to get past your level for multiplication. And if you made it past, shed throw a disco party, said McKenzie Duncan.

All of this is happening during a year of ups and downs and a mix of remote and in-person learning. Mrs. Berdar couldnt be more thankful for being recognized.

Its very humbling. Its very unexpected but feels much appreciated, said Berdar.

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3rd-Grade Teacher In Washington County Uses Creativity To Stand Out - CBS Pittsburgh

Embryology

From Me to Us at Battersea Arts Centre Online | Theatre review – The Upcoming

From Me to Us at Battersea Arts Centre Online | Theatre review

In 2019, a historical shift in UK law occurred without much fanfare or notice: Section 54a of the Human Fertilisation and Embryology Act 2008 permitted single parents to gain surrogacy rights and parenthood authentication for the first time. Wayne Steven Jacksons From Me to Us is a tribute to this change as unassuming yet commendable as the political event itself.

Written, directed and performed by its creator, Jackson composes a letter from a future father to his future child. He weaves together details, both autobiographical and imagined, and speculates on what the times to come will be like, while also remembering the difficult steps it took to get there.

With the original play adapted for a digital performance, Ben Horrigans videography adds only some visual variety to the otherwise sparse staging. While location shots punctuate the plays poignant moments, the occasional slide into split screen is pretty needless. Fortunately, such stylistic flourishes dont detract from the strengths in the original material. At times the script is merely informative of its context, but the creator is really trying to explore the emotional ramifications before and after Section 54a, highlighting the myriad difficulties around single parenthood surrogacy (specifically, at times, for gay men). It hovers on a thin line between sincere and mawkish; Jackson deftly criticises long-held ignorance and scepticism over single father surrogacy, but allows the odd platitude on parental love to drop dully. Chris Bensteads soft classic score doesnt always help either, providing a musical backdrop that tries to pull heartstrings but is occasionally overpowering.

However, the focal performance by Jackson certainly makes the show undeniably relaxed and earnest. Switching between shirts and reminiscing over the few personal props on an almost unadorned stage, the actor invites casual intimacy with his story and the political conditions that inform it. Over its brief runtime, the play reminds the audience that not all life-altering, societally impactful events take place with noisy conflict and tragedy in the space of political theatre, if you like. Instead, From Me to Us is a quiet, sweet love letter to the small, struggling shifts that open big, joyful possibilities.

James Humphrey

From Me to Us is available to stream from 10th May until 16th May 2021. For further information or to book visit the theatres website here.

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From Me to Us at Battersea Arts Centre Online | Theatre review - The Upcoming

Embryology

Stem cell therapy as a basis for the regenerative medicine – America Daily Post

Significant advances in the experimental embryology, cytology, molecular genetics and genetic engineering have led to the formation of a new field of biomedicine regenerative medicine. Regenerative medicine employs pluripotency of stem cells for restoration of diverse tissues and body structures. The approach is applied in oncology, orthopedics, neurology, cardiology, endocrinology, etc.

The role of stem cells

Discussions about the benefits or risks of stem cells application are now often debated. At first, stem cells have appeared to be an expensive panacea that can cure any disease. Other publications have discussed the adverse effects of stem cell therapy, such as the risk of cancer. Repeatedly conducted studies have proved that the risk of cancer is zero. Stem cell therapy in Germany uses only proven scientifically methods of regenerative medicine, in which the development of complications is almost impossible.

Stem cells are cells that are capable of differentiation and transformation into many other types of cells, for example, skin cells, liver cells, brain cells, etc. Stem cells are divided into the natural (embryonic and adult cells) and grown in the laboratory ones. Each of these types has properties and characteristics that are unique to this type.

Cellular technologies are already developing so actively that they have moved from the fundamental biological field to the field of regenerative medicine, which implements the achievements of science of the last decades into practical healthcare tools this is translational medicine. That is, these technologies are not becoming prospects for the near future, but rather well-recognized, repeatedly tested, reliable methods of treatment.

What tissues can stem cells be harvested from?

Currently, the greatest attention is given to the adults own mesenchymal cells. Work with this type of stem cells does not carry the chance of developing cancer in the patient. Stem cells can be taken from various body tissues, such as red bone marrow, cartilage or skin. Then they are concentrated by centrifugation. Further, stem cells can go through the incubation and induction stage to increase their number. In other cases, mesenchymal stem cells are introduced into a sore spot immediately after concentration.

A mandatory and necessary condition for the effectiveness of therapy is the targeted injection of stem cells suspension directly into the damaged tissue. The procedure usually goes virtually painless, thanks to the latest equipment. For these purposes, doctors often use ultrasound or X-ray navigation methods.

Is stem cell therapy effective in older people?

A significant problem of cell therapy based on the use of own stem and progenitor cells is a decrease in the regenerative potential of cells with age and in patients with severe chronic diseases, primarily diabetes mellitus. Many laboratories in the world are working to increase the therapeutic activity of cells with the help of special modifications at the genetics level. For this purpose the introduction of growth factor genes, cytokines, or signaling molecules into the cells is used.

The increased ability of transplant to produce biologically active substances, increasing their viability and survival after transplantation into damaged tissues is taken into account. Its main concept is the cure of the disease due to the regeneration of altered or damaged tissues or organs.

Is it possible to use stem cells in oncology treatment?

In German clinics, stem cell therapy is actively used for the treatment of cancer. It is especially effective in the treatment of solid tumors, this method is used as an additional option in the conventional cancer chemotherapy, radiation therapy or surgery.

This type of therapy is also applied in patients at the stage of remission in order to prevent relapse. Stem cells are also aimed at reducing side effects after chemotherapy and radiation therapy.

If you are interested in stem cell treatment and would like to receive it in Germany, please contact Booking Health. Booking Health specialists will provide comprehensive information regarding all your questions, select individual diagnostic or treatment programs for you. You will also receive assistance in all organizational aspects, such as visa issuing, booking tickets, transfer, selection of housing and so on. With the support of Booking Health, you can be sure that your stay in Germany will be as comfortable as possible.

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Stem cell therapy as a basis for the regenerative medicine - America Daily Post

Embryology

Assisted Reproductive Technology Market Poised to Garner Maximum Revenues During 2025 The Courier – The Courier

In-vitro fertilization (IVF) technology would account for an unrivalled patient base, as compared to surrogacy and artificial insemination, on the back of the high success rate of the procedure. The introduction of preimplantation genetic diagnosis (PGD) technology helps medical professionals screen embryos for inherited diseases, which further improves the prospects of conceiving a healthy child.

Conditions such as PCOD/PCOS are found to worsen the reproductive performance of women, which leads to remote chances of conceivability, thereby encouraging women to undergo infertility treatment using assisted reproductive technology. Based on these relevant insights, authors of an exclusive Fact.MR study estimate a CAGR of around 6.3% for the expansion of theassisted reproductive technology marketduring the forecast period (2020-2025).

Fertility Clinics Scoring Well in Assisted Reproductive Technology Market

Numerous treatment cycles of infertility treatment using assisted reproductive technology turn the procedure highly expensive. Fertility clinics are magnifying their focus on offering one-stop solutions, ranging from diagnostics to treatment. Investments have also increased towards the development of separate semen and embryology labs to ensure a stable, pathogen-free, and non-toxic environment for gamete handling.

Focus of medical professionals of fertility clinics has been on offering quality service to patients by leveraging advanced technology, which, in turn, is boosting the demand for neoteric equipment and devices from fertility clinics. Considering these influences, in 2020 alone, fertility clinics are projected to contribute around US$ 16.8 Bn revenue to the assisted reproductive technology market, which is the highest as compared to hospitals and centres offering similar services.

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Assisted Reproductive Technology Market Poised to Garner Maximum Revenues During 2025 The Courier - The Courier