What if we could help threatened wildlife better adapt to the intractable threats many species are facing from challenges like climate change and disease?

The United Nations has warned that about a million animal and plant species are at risk of extinction. In response, conservation breeding programs are ramping up to boost and protect populations.

The problem is that while conservation breeding can prevent extinction, it doesnt allow threatened species to survive in the wild in the face of these difficult to mitigate threats.

So, while it is critical that we address climate change and diseases, we also need to be urgently looking at way to make it easier for species to live with the threats.

This is where Targeted Genetic Intervention (TGI) comes in.

TGI works by adapting methods that are successfully used in agriculture and medicine in which an individuals genetics are tweaked in ways that, when passed on to the wider population through breeding, can change the traits of a species to improve its survival.

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Two of the most promising approaches in this toolkit include artificial selection and synthetic biology.

Artificial selection has been used for thousands of years in animal and plant breeding to produce pets, farm animals and agriculture crops with desired features.

This has led to the development of many of the animals and plants we now rely on for food or companionship like dairy cattle, rice and Golden Retrievers.

These approaches were even lauded by English naturalist Charles Darwin for their astonishing ability to generate from wolves our domesticated dogs which are as different as Chihuahuas and Great Danes.

Today, advances in genomic approaches have made artificial selection methods considerably more sophisticated than in Darwins day. We can now use genomic information to predict what traits an animal will have with an approach known as genomic selection.

Genomic selection may be a game changer for endangered wildlife because it allows for the development of informed breeding strategies that promote adaptation.

It works by first understanding and identifying what genetic features make members of a species more adapted to an environment or threat than others. This is usually done by exposing individuals in a reference population to the threat (like heat stress or infectious disease) and then measuring their response.

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We then look for genes that are present in individuals that resist and survive the threat. This genetic information can be used to predict which animals in the breeding population are better adapted to survive a given threat based on their own genotype.

Over time, the use of genomic selection as a breeding strategy can increase the average ability of these individuals in the breeding population to survive by promoting adaptation in captivity.

The ability to use this sort of genomic prediction data based on discrete groups of individuals is a major advantage because it means that risky activities, like exposing a population to a disease or other infection as part of a trial, can be performed separately in laboratories away from the critical breeding populations.

Synthetic biology is newer and more controversial than artificial selection. It includes methods like transgenesis and gene editing.

While these methods frequently figure in science fiction and are sometimes feared for their unintended consequences, the real science of synthetic biology is gaining traction in the conservation community due to its many benefits.

Additionally, a recent public opinion survey conducted by the Commonwealth Scientific and Industrial Research Organisation (CSIRO) indicates that the public are moderately-to-strongly supportive of use of synthetic biology approaches for conservation.

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Synthetic biology can be used to introduce lost or novel genes and tweak specific genetic features of an organism without changing other characteristics, which often occurs with less targeted approaches like artificial selection.

Transgenesis does this by incorporating foreign DNA from a different species into the genome. Gene editing is more subtle and works by inducing the organism itself to knock out or replace targeted genes.

American Chestnut trees, corals and black-footed ferrets are just some of the species that synthetic biology methods are currently being trialled to assist with restoration. American Chestnut trees, in particular, are a great success story for the use of synthetic biology for conservation.

This species was driven to virtual extinction in North America after the introduction of the Asian Chestnut Blight fungus in the late 1800s.

Various approaches have been tested to increase resistance to this pathogen with varying degrees of success, but since the tree lacks natural resistance, the most effective approach to date has involved using transgenesis to introduce a new disease-tolerant gene from wheat.

This has produced American Chestnut trees that appear to be blight tolerant. Trial plantings of these trees in American forests may soon start, pending regulatory approval.

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My research group at the University of Melbourne was recently awarded grants from the Australian Research Council (here and here) to test TGI approaches in various Australian frogs vulnerable to extinction.

Many frogs in Australia and globally are threatened by the devastating fungal disease chytridiomycosis. This disease is caused by the introduced fungus Batrachochytrium dendrobatidis and unfortunately few options exist for restoring frogs susceptible to this disease to the wild.

We are working with various institutions including Zoos Victoria and the Taronga Conservation Society to investigate if TGI approaches can be used to increase chytridiomycosis resistance in Australian frogs.

We are currently working on the iconic Southern Corroboree frog (Pseudophryne corroboree) and, in the next few years, we intend to add additional species like the Green and Golden Bell frog (Litoria aurea) and Northern Corroboree frog (Pseudophryne pengilleyi).

Its imperative that we as a community investigate the application of TGI approaches for conservation as in some cases they may be the only way to restore a species in the wild.

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But with this comes the responsibility of the public, government and scientists to not only fund research on TGI, but to also make sure that it is done responsibly with careful consideration to all entities impacted and with proper evaluation of all potential risks.

Since TGI for conservation is a new concept, species modified by TGI should be evaluated to ensure that induced genetic changes increase survival and that the organisms pose no risk to the environment by occupying a different niche or position in the food chain.

Given the scale and seriousness of the challenge in conserving our wildlife, and given the established efficacy of TGI, its an approach that we cant afford to ignore.

The ideas introduced in this article are discussed in more detail in our recent article in the journal Trends in Ecology and Evolution. Dr Koschs co-authors are Anthony W. Waddle, Dr Caitlin A. Cooper, Professor Kyall R. Zenger, Professor Dorian J. Garrick, Associate Professor Lee Berger, and Professor Lee F. Skerratt.

The southern corroboree frog genome is being sequenced for the researchers by the Vertebrate Genomes Project.

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Using genetics to conserve wildlife - Pursuit

A world-first pilot of predictive genetic testing aiming to identify those at high risk of cardiovascular disease is under way in GP surgeries in the north of England.

The NHS pilot, called Heart, is offering genetic tests to 1,000 healthy volunteers aged between 45 and 64 years old to give more accurate predictions for their risk of heart disease and stroke.

The pilot could be the first step towards a wider rollout of predictive genetic testing on the NHS to improve screening for those at risk of a range of common diseases including breast and bowel cancer, diabetes and osteoporosis.

Prof Sir Peter Donnelly, the founder and chief executive of Genomics, the company that developed the tests, said: These are people going about their daily lives who are at high risk of cardiovascular disease who are currently invisible to the NHS. We can find these people who are actually at quite high levels of risk but not aware of it.

Genetics is an important risk factor for many common diseases, including heart disease. However, until recently it has been impossible to quantify the genetic component of risk because it is typically spread thinly over thousands of DNA regions. The advent of vast genetic databases has changed this, allowing scientists to develop algorithms that aggregate the contributions of huge numbers of genes into a polygenic risk score (PRS) for a given condition.

The participants will be recruited from those undergoing a routine NHS health check that is offered to people over 40. As part of the check, GPs use an algorithm called QRisk that combines non-genetic factors such as age, blood pressure, smoking history and cholesterol to identify those at risk. Those estimated to have a 10% chance of a heart attack or stroke in the next 10 years are advised on lifestyle changes and offered medications such as statins.

The pilot will combine the QRisk score with the genetic score to provide a more precise estimate of risk. Research suggests that in 45- to 55-year-old men, the PRS is the single most important risk factor, explaining about the same amount of the risk for heart disease as the combined effect of all the non-genetic risk factors. Overall, about 5% of people aged 45-65 are expected to be above the risk threshold for statins based on PRS and QRisk combined, but not on Qrisk alone. Applied to the number of 45-65-year-olds in England, if these extra individuals were all treated with statins about 9,500 cardiovascular events could be avoided over 10 years.

Michael Brennan, 61, who is retired and lives in Darlington, said he had no hesitation in signing up for the pilot. Im probably not alone at this time of the year in thinking about health and lifestyle, he said. He is waiting his results, but said he will be glad to find out either way. If I know, Ive got a chance of doing something about it, he said.

However, some have concerns that deploying the tests could lead to genetic fatalism, because unlike most other risk factors, genetic ones are not modifiable. There is also continued concern that the tests, which have been largely developed using genetic data from white Europeans, give less accurate results for people from other ethnic backgrounds. Donnelly said that the company had worked hard to address this issue that genetic ancestry is factored in when calculating risk scores.

However, Prof David Curtis, a geneticist and psychiatrist at University College London, said that it had not been demonstrated that the tests work equally well for those of all backgrounds. I maintain that this is a test that will work less well in people with minority ancestries and so would be expected to increase inequalities in healthcare, he said.

Prof Ahmet Fuat, the chief investigator on the pilot and a GP with a specialist interest in cardiovascular health, said genetic testing could be a game changer for primary care. Genomic testing can improve our identification of patients who need extra management, screening or treatment, and better personalise those interventions to them, he said. Common diseases like cardiovascular disease place a great deal of demand on our resources and anything that helps us use those more efficiently and effectively is incredibly valuable.

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NHS pilots genetic testing to predict risk of heart disease - The Guardian

Cervical cancer is cancer that develops in the cervix, the part of the body that connects the vaginal canal to the uterus.

The most common types of cervical cancer are not hereditary, meaning a person is not more likely to develop it if a parent or close relative has had the disease. However, some rare types of cervical cancer may have a genetic component. Changes to certain genes, such as the DICER1 gene or STK11 gene, may increase a persons risk of cervical cancer.

This article describes which types of cervical cancer may be hereditary and outlines some familial risk factors for the disease. We also list other risk factors for cervical cancer and provide information on symptoms, prevention, and outlook.

Most common types of cervical cancer are not hereditary. In fact, around 70% of cervical cancers are due to infection with human papillomavirus (HPV).

However, some very rare types of cervical cancer can be hereditary, meaning they have a genetic component. In these cases, a person may be at risk of developing such cancers if they have a genetic variant that increases their risk of developing cervical cancer or a first-degree relative with cervical cancer linked to a genetic cause.

If multiple people on one side of a persons family have cervical cancer, a doctor may recommend they have additional screening tests or more regular screening for cervical cancer.

If doctors notice a trend in cancer types among family members, they may recommend additional screening or even hereditary cancer screening. This can help discover genetic trends or risk factors for cancer.

Having a risk factor for cervical cancer does not mean that a person will develop the disease, only that they are at increased risk of doing so.

There are two main genetic risk factors for cervical cancer: DICER1 syndrome and Peutz-Jeghers syndrome (PJS).

DICER1 syndrome is a rare genetic condition causing changes in the DICER1 gene. It is a risk factor for hereditary cancer types in children and young adults.

Having DICER1 gene variations may increase the risk of a rare type of cervical cancer called cervical embryonal rhabdomyosarcoma (ERMS) and other sarcomas of the cervix.

While many problems that stem from the DICER1 gene appear in childhood, about 33% of cervical ERMS cases occur in people over the age of 20.

PJS is a genetic condition that causes changes in a tumor-suppressing gene called STK11. The condition causes noncancerous growths called polyps to appear in the gastrointestinal tract. It also increases the risk of some cancer types, including cervical cancer.

PJS may have an association with some more rare cancer types, such as minimal deviation adenocarcinoma (MDA). This cancer type accounts for around 13% of cervical adenocarcinomas, a less common type of cervical cancer.

There are a number of other important risk factors for cervical cancer besides genetics. These include:

There are many types of HPV infection. Some do not increase the risk of cervical cancer, while others may cause changes in the cervix that could develop into cervical cancer over time. Two types of HPV, HPV 16 and 18, cause approximately 70% of cervical cancers.

Doctors recommend regular screening tests to check for HPV infections in anyone between 2565 years of age with a cervix.

Having several sexual partners or having sex with someone who has many sexual partners may be a risk factor for cervical cancer. A person with a higher number of sexual partners may have a greater chance of exposure to HPV, the major cause of most cervical cancers.

Taking oral contraceptives for extended lengths of time may be a risk factor for cervical cancer. According to the American Cancer Society (ACS), the risk may increase the longer a person takes the pill but decreases when they stop. Once a person has stopped taking the pill for many years, their risk level returns to normal.

Autoimmune diseases can make it difficult for the body to fight off infections and illness. Therefore, having an autoimmune disorder may be a risk factor for cancer, including cervical cancer.

Smoking and tobacco use increases the risk of cancer developing anywhere in the body, including the cervix.

Tobacco smoke contains at least 70 cancer-causing chemicals. Quitting tobacco use can reduce a persons risk of developing cancer and other chronic diseases.

Anyone having trouble quitting smoking should speak with a doctor for information and advice.

People from low income areas may lack sufficient access to medical care that reduces their risk of cervical cancer. This may include difficulty getting regular screening for HPV and cervical cancer and difficulty accessing vaccines and medications for sexually transmitted infections (STIs).

People with early stage cervical cancers typically do not notice any signs or symptoms. However, a doctor may still be able to detect early stage cervical cancer through screening tests. This is why regular cervical screening is so important.

Signs and symptoms of cervical cancer usually only occur once cancer has grown in size or has spread to nearby tissues. At this stage, the most common symptoms are:

The above signs and symptoms can also be due to conditions other than cervical cancer. However, anyone who experiences one or more of these symptoms should contact a doctor for a cervical exam.

Below are some preventive measures people can take to help reduce their risk of developing cervical cancer.

Getting an HPV vaccine may protect against the types of HPV associated with cancers of the cervix, vagina, and vulva.

The Centers for Disease Control and Prevention (CDC) recommends the HPV vaccine for everyone up to age 26. People aged 2745 years should speak with a doctor about their risk of contracting new HPV infections and the potential benefits of receiving a vaccination.

Doctors may recommend screening for cervical cancer using cervical exams, Pap smear tests, and HPV tests every 35 years.

Regular screening can help detect precancerous cervical cells. These are abnormal cervical cells that are not yet cancerous but have the potential to become cancerous if left untreated. Detecting and treating these cells can help prevent cervical cancer in some cases.

Regular screening also helps to detect early stage cervical cancers. Treating cervical cancer in its early stages can help improve a persons outlook.

In some cases, changing certain sexual behaviors may help reduce the risk of HPV. Potential changes include:

There is no guarantee that making the above changes will prevent cervical cancer, but they may reduce a persons risk.

No matter how long a person has smoked, quitting smoking and tobacco use may help reduce their risk of cancer, including cancer of the cervix.

Thanks to regular screening, doctors can detect and treat cervical precancer and cancer earlier. Advances in treatments are also improving the outlook for people with the disease.

According to the ACS, the 5-year relative survival rate for cervical cancer from 20102016 across all disease stages was 66%. During the same period, the 5-year relative survival rate for localized cervical cancers that had not spread to nearby tissues or lymph nodes was 92%. The difference in these statistics emphasizes the importance of early detection and treatment of cervical precancer and cancer.

The most common types of cervical cancer are not hereditary. HPV causes most cases of cervical cancer. A person typically acquires HPV through sexual contact with someone who carries the virus.

However, some very rare forms of cervical cancer may have a genetic component. Changes to the DICER1 gene or STK11 gene may increase a persons risk of developing the disease. Anyone with a family history of cervical cancer related to genetics should speak with a doctor about screening.

Regular screening for cervical cancer can help doctors detect and treat precancerous cervical cells, which may help prevent the cells from developing into cancer. Regular screening also allows doctors to detect early stage cervical cancer. This is important since treating cancer in its early stages is associated with better outcomes.

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Cervical cancer: Is it genetic? - Medical News Today

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