Daily Archives: June 5, 2022

ENDANGERED SPECIES ESSAY

Im still here. Dont let me go. ~Robert Krulwich

Once deemed extinct in Lord Howe Island (LHI), where they are endemic, today only 35 Lord Howe Island Stick insects (Dryococelus australis), are alive in the wild, but not in LHI.

The Lord Howe Island Stick Insect is also called the tree lobster, the name well use in this article. The tree lobster has a massive genome, larger than a human genome by 25%. And yet, this stick insect will only stretch six inches long large enough to fit on an adult humans palm. Its perhaps both the largest stick insect and the rarest invertebrate in the world.

The tree lobster thrived and is endemic to Lord Howe Island. In 1916 Australian Entomologist Arthur Lea counted 68 of them in the hollow of a single tree on the island. But by the 1920s, all tree lobsters disappeared, and by the 1960s they were declared extinct.

The black rats

Their disappearance was blamed on black rats (Rattus rattus) that swam from the British ship, SS Makambo, to LHI when it ran aground in 1918. The rats ate the tree lobsters like candy.

They also decimated five bird species and 12 other invertebrate species. Island inhabitants saw the rats running up and down tree trunks. They spoiled human food and compromised human hygiene.

LHI has some 350 permanent residents. The rodent population in 1918 rose to 300,000 rats and mice. The ratio was roughly 1,000 rodents per human.

This is a story just as much about the decimation of an entire rat population on an island, as it is about the extinction and rediscovery of the tree lobster.

Tree lobster rediscovered elsewhere

In 1964, a group of climbers navigated Balls Pyramid, a steep, rocky outcrop situated 27.2 km from Lord Howe Island. They found a few stick insect corpses that seemed to be recently dead. They took pictures but left the Pyramid before nightfall.

Balls pyramid is very different from Lord Howes Island. Its a steep and tall promontory that juts out vertically from the Tasman sea. Its hard to climb not just because of its straight-up form, but also because its inhabited by barnacles, poisonous centipedes, spiny sea urchins, and other tiny, local wildlife.

Scientists decided in 2001 to find the tree lobsters. Two of them were Australian scientists, David Priddel and Nicholas Carlile. Two others were their assistants. All four rode a boat through shark-infested waters. Upon landing, they climbed 500 feet up.

But all they found were crickets. Upon heading back down, they saw a melaleuca bush peeping out of a crack. Underneath it was fresh poop from evidently large insects.

Priddle and Carlile returned to the site after nightfall, armed with flashlights and cameras. They found 24 tree lobsters beneath the melaleuca bush, dining on tea. Aside from that, very little is known about tree lobsters in the wild.

However, they took two pairs of insects, both male, and female, to breed them in captivity. The goal was to establish an alternate population if those on Balls Pyramid went extinct.

As of now, only 35 adult Lobster Stick Insects live in the wild on Balls Pyramid. Because they only feed on tea, theyre endangered by the possible eradication of their food source by the invasive Morning Glory creeper, Ipomoea cairica. To thwart this, in 2003, the Morning Glory vine was partially removed from Balls Pyramid. A small portion was kept because it helps stabilize the soil of outcrops from steeper slopes.

Another threat is the possible poaching of the tree lobster and its eggs by private collectors, which is why access is restricted on the pyramid. Doing so also protects the habitat.

A third threat is natural disturbances like drought, storms, and landslides that could eradicate the entire tree lobster population in the wild, rendering them extinct within seconds.

These are the reasons why the International Union for the Conservation of Nature (IUCN) rates the tree lobster as Critically Endangered.

By 2017, 35 individuals were seen on Balls Pyramid. Surveys are infrequent because of the abovementioned vulnerabilities of the tree lobster.

Adam and Eve

The tree lobsters were brought to Zoos Victoria for captive breeding with the aim to eventually rewild them. One pair didnt survive, so the remaining pair were named Adam and Eve by Zoos Victoria. Initially, Eve became critically ill, but the zoo staff successfully enabled her recovery, and she laid 248 eggs. The tree lobsters were fed Moreton Bay figs and alfalfa. The juveniles were given blackberries.

The entire captive population that descended from Adam and Eve numbers more than 14,000 in captivity, in Melbourne Zoo alone. Others are being bred in Bristol Zoo, San Diego Zoo in California, and other zoos and museums around the world.

Today thousands of Lobster Stick Insects exist in zoos and museums around the world. They hope to eventually recolonize Lord Howe Island, the land thats their natural home.

Genome and differences measured

There are morphological differences between the Lord Howe Stick Insect before its extinction, and the same insect in Balls Pyramid today. These differences raised questions about whether the two were of the same species.

To settle the issue, Alexander S. Mikheyev et. al. assembled a complete mitochondrial genome from a tree lobster in Balls Pyramid and compared it to a mitochondrial genome from a stick insect museum specimen that lived on Lord Howes Island before their extinction.

Results showed less than 1% difference between both genomes, falling within range to be considered the same species. It was safe to say that the tree lobster was no longer extinct.

As for their physical differences, scientists mused it could be due to genetics or the environment. By raising them in captivity, they could observe this insect regularly, and they noticed that it evolved frequently. They believe it was for morphological convergence, meaning, each tree lobster would morph and still remain similar to one another. The morphing of insects is usually an adaptation to a shared environment.

Another possibility is that tree lobsters from Balls Pyramid and those from Lord Howe Island both had a shared origin, but the tree lobsters at Balls Pyramid were perhaps isolated for a very long time.

How they got to Balls Pyramid

Another question was how they reached the Pyramid. It is the remains of a former, far larger volcano. Now its a steep, vertical, rocky cliff that rises 560 meters above sea level.

True, the Pyramid is less than 30 km away from LHI, but this insect can neither fly nor swim, and no land bridge connects them. Scientists theorized that birds may have mistaken them for twigs, and flew them to Balls Pyramid where they built their nests.

Theres a precedent to this theory. Scientists in Japan studying another stick insect species noted that even if birds eat stick insects, the insects eggs can pass through the birds digestive tracts and hatch. Extrapolating from this, it may be that unborn offspring was airlifted to Balls Pyramid, and repopulated there.

Rat story

Theres the hope of rewilding the tree lobster on Lord Howe Island where they truly belong. In fact, the Lord Howe Island Board decided in 2019 to undertake the biggest Rodent Eradication Program (REP) in the world. Strategies included:

Eliminating mice and rats simultaneously, to derive the best long-term results from REP.

Distribution of rat baits by hand, and setting up bait stations in residential areas.

Setting up over 23,000 rat baits inside all buildings, and throughout the island.

Dropping 42 tons of poisoned cereal from helicopters on areas highly populated by rats.

Dropping by helicopter 22,000 lockable traps that held rat poison over uninhabited, hard-to-reach mountains and forests.

Arming worker teams with GPS trackers to log rat movements on their mobile phones.

Enlisting the expertise of dozens of scientists.

The task wasnt easy. There were some 200,000 rats on the island, running up tree trunks, destroying gardens, and disturbing the natural environment. In the end, they killed 300,000 rodents.

Paradise found

The REP was highly successful, and currently, the task is to make sure that there are absolutely no rats left on Lord Howe Island and to ensure that the rodents dont make a comeback.

In April 2021 an island resident reported that she saw two adult rats on a road. After they were hunted and killed, they discovered that one rodent was male, and the other one was a pregnant female.

Every few months, rat detection dogs inspect the island. The most recently seen rat was caught by a detection dog in August 2021. The goal now is to make sure the rats are gone for good and to ensure that they dont make a comeback via boats and other means to reach the island.

With the eradication of the rats, new fruit that has never before been seen by residents now grows, and people have photographed hundreds of unfamiliar insects and sent their photos to the Australian Museum. Also, four snail species previously presumed to be extinct have resurfaced.

Hank Bower, World Heritage manager of the Lorde Howe Island Board Environment, has lived on the island for 15 years. He told the Sydney Morning Herald, Everything is blooming, all the plants are flowering and we are seeing a carpet of seedlings.

Ecological importance

In general, stick insects are like gardeners. By feeding on leaves, they prune shrubs, in this way allowing new plants to grow. Their defecation builds up soil nutrients that will enrich succeeding new plants. This activity permits forest recycling.

They also play a vital role as the prey of certain meat-eating amphibians, birds, some mammals, and several reptiles. The latter, by only eating meat, are deprived of necessary nutrients from the sun that plants generate through photosynthesis.

By feeding on plant-eating insects like the tree lobster, these animals are able to absorb the valuable nutrients of the son through this and other insects.

When meat-eaters prey on the tree lobster, they absorb valuable energy and nutrition that is generated by the plants that these insects eat.

In sum, the tree lobster is equally valuable in its diet, and as prey. In the latter case, it links sun-generated energy derived from plants and transposes it to the animals that eat it. In this way, the tree lobster passes the suns energy up through the food chain.

It may sound heartless, but according to entomologist Matan Shelomi, insects have no pain receptors, so they cant feel pain, but irritation. If damaged, they have no emotions, implying that they cant suffer. So dying isnt torturous, for them, its inconvenient.

We hope Shelomi is right, but there are conflicting beliefs on this. Some studies show that insects have a wider range of emotions than we realize. Its also suggested that they can feel delight, depression, fear, and respond to pain.

The bottom line is that everybody dies, and in death, a role is played in the well-being of an ecosystem. And in this sense, tree lobsters are no different from all the rest of us.

See more here:
Lord Howe Stick Insects: Wrongly Deemed Extinct; With Genome 25% Larger Than a Human's - PRESSENZA International News Agency

Enterovirus isolation

Three isolates were obtained from the clinical samples of the patients involved in the small outbreak. One was obtained from the hepatic biopsy of patient 1, here referred to as Iso_pt1_L, while the others were obtained from the serums of patient 2 and patient 3, named Iso_pt2_S and Iso_pt3_S respectively (see Table 3).

The Enterovirus strains involved in this small outbreak were typed, basing on VP1 partial sequences and all resulted belonging to E-11. Moreover, the phylogenetic analysis performed comparing the VP1 sequences with a set of E-11 strains retrieved from GenBank shows that our strains strictly correlated and segregated in a unique and well separated clade which belongs to the D5 genotype of E-11 according to Li et al. [31], thus confirming the epidemiological link between the Enterovirus infections described here. (Additional file 3).

To further characterize the RNA genome, the EVs isolated in cell culture (Iso_pt1_L, Iso_pt2_S and Iso_pt3_S) and the virus from the liver biopsy of patient 1 (Pt1_L) were entirely sequenced. All nucleotide sequences were then aligned using Clustal W and the amino acid sequences of the polyproteins were compared. As expected, all viral strains revealed a high identity at nucleotide level (median=99.87%, ranging from 99.83 to 100%); two schematic tables of the nucleotides and amino acid differences respectively found, are provided in Additional file 4. Moreover, comparing the Liver Enterovirus strain (Pt1_L) with the corresponding Liver isolate (Iso_pt1_L), no amino acid differences were observed, while the sequence of Iso_pt2_S compared to Enterovirus strains of pt1, shows one amino acid substitution, C1677 L, located in the P3 region of the polyprotein. Specifically, it maps in the region encoding for the protein complex of 3BCD that is the precursor of the non-structural proteins 3B (Vpg primers for RNA transcription), 3C (protease) and 3D (viral polymerase). Similarly, we compared the amino acid sequence of Iso_pt3_S with those of pt1 (Iso_pt1_L and pt1_L) and we found the following four substitutions: D478G localized in the P1 portion of the polyprotein encoding for capsid proteins; T1898A, G2100V and E2101T, located in the portion encoding for the viral RNA polymerase 3D. Furthermore, comparing the amino acid sequence of the virus described here with 35 polyprotein sequences of other E-11 strains downloaded from Genbank, we found 25 amino acid substitutions (V101I, E115D, I310V, V572A, T651V, E895D, Q1031H, C1033S, L1938F, I1084V, T1122A, Q1185H, S1213E, S1365N, T1418S, S1429N, N1536S, P1539L, A1533S, V1558I, L1298I, T1868N, I2135V and D2140N). To date, no biological significance associated with any of these substitutions have been described.

Despite the typing of the VP1 gene assigned our virus to an E-11, the phylogenetic analysis of the full-genome sequence of ECHO11_INMI against a set of 123 sequences retrieved from the Picornavirus homepage, showed an unexpected pattern: ECHO11_INMI strain did not segregate with E-11 serotypes, but with a CV-B1 (Acc N: MG845887) (Fig.2). This finding led us to hypothesize that ECHO11_INMI could be a chimeric strain, maybe originating from a recombination event between an E-11 (Acc N: AY167103) and CV-B1 (Acc N: MG845887).

Unfortunately, we were not able to sequence the entire genome of the virus infecting Pt 0 (index case) due to the low quantity of virus in residual material, as the liver bioptic sample (Pt0_L) was fixed in paraffin which badly conserved the nucleic acid. However, we were able to obtain two amplicons of the sequence by RT-PCR that localized upstream and downstream from the recombination breakpoint respectively. Both amplicons were sequenced and show a high identity (median value=99.78% and 98.17% of upstream and downstream fragment, respectively) both with the sequences of the three isolates and the virus detected in the liver of patient 1 (Pt1_L), therefore suggesting that the recombination had already occurred in the virus infecting the source (Pt0).

The phylogenetic tree of the full genome sequences (data not shown) shows that ECHO11_INMI, segregates with the CV-B1 (MG845887.1). To better define the phylogenetic relationships, we analyzed separately the P1, containing the VP1 gene, and the P3 region as it locates close to 3 end of the genome and far from P1 (Fig.1). The phylogenetic tree of the P1 region (Fig.2) shows that our ECHO11_INMI sequence clusters together with all E-11 types while CV-B1 (MG845887.1) segregates with CV-B1 type in a separate clade. The P1 region contains the sequence coding for the capsid proteins, VP4, VP2, VP3 and VP1. In particular, it is well known that VP1 is the most antigenic protein and its sequence is used for the typing of Enterovirus genus as it has been shown to correlate very well with the classical serotype [32]. Indeed, phylogenetic studies on VP1 sequences of the genus have clearly shown that strains of the same serotype always cluster together [33].

Phylogenetic trees. Phylogenetic trees constructed on the basis of P1 region [nucleotide positions from 726 to 3253 referring to Human echovirus 11 prototype strain Kust/86 (Accession N GenBank: AY167105.1)] and of the P3 region [nucleotide positions from 6956 to 7256 referring to Human echovirus 11 prototype strain Kust/86 (Accession N GenBank: AY167105.1)]. The nodes defining the clade including ECHO11_INMI strain are indicated with a black dot (Bootstrap value in a, b, and c tree are: 99, 100 and 94 respectively). ECHO11_INMI strain are reported in red, Echo 11 types are reported in blu and CVB1 types are reported in green

Therefore, this result confirms that our sequence belongs to the E-11 type. The last tree (Fig.2), constructed on the basis of the P3 region of the genome, shows that the ECHO11_INMI segregates close to the CV-B1 (MG845887.1). This result is consistent with the hypothesis that recombination occurred in the P2 region of the genome, between P1 and P3.

To confirm the presence of a recombination breakpoint in our strains, we performed a recombination detection analysis, using RDP4 software (Fig.3). Specifically, the analysis recognized that ECHO11_INMI was a chimeric strain of E-11 (AY167103) and CV-B1 (MG845887); it also identified the breakpoint of recombination between nucleotide 4083 and 4201 of ECHO11_INMI sequence without gap, with 99% certainty (p values 5.259*1024, as reported by RDP4).

Recombination analysis results using RDP4. The plot shows the pairwise identity between ECHO11_INMI (accession no: KX527626) and the Human E-11 strain Hun/90 (accession no: AY167103.1) or CV-B1 (accession n. MG845887), represented in green and purple line respectively. While the yellow line shows the pairwise identity between E-11 strain Hun/90 and CV-B1. Each polymorphic site detected in the sequence dataset analyzed, was marked with a black bar. Then, the long black lines above the plot equivalent to the high number of nucleotide variation among sequences; the white spaces identify regions where the polymorphism are absent

The recombination site is located in the region encoding for P2 of the polyprotein that is the precursor of three non-structural proteins involved in the replication process: 2Apro, 2B and 2C.

To confirm that the virus in our samples is a new variant originating from a recombination event between an E-11 and a CV-B1, and to exclude the hypothesis of a co-infection with both viruses, we designed four sets of primers. Two of them were specific for E-11 serotype, targeting respectively the region upstream and downstream of the breakpoint (E11 2F-E11 2R, E11 3F-E11 3R); in the same way we designed two sets of primers specific for CV-B serotypes, targeting respectively the region upstream and downstream from the recombination site (CVB 2F-CVB 2R, CVB 3F-CVB 3R). Figure1 shows a schematic representation of the EVs genome and details of experimental design for RT-PCR amplification of both E-11 and a CV-B1.

Pt1_S and all isolates were tested with all sets of primers described and we obtained similar results(Additional File 5). The amplification resulted positive with the set E112F-E112R, that targets the region upstream of the recombination breakpoint, and with the set CVB 3F-CVB 3R, that targets the region downstream of the breakpoint, instead the other sets of primers, CVB 2F-CVB 2R and E11 3F-E11 3R, that map at 5 and 3 of the genome, respectively, gave negative results (Fig.4).

RT-PCR performed with specific sets of primers for E-11 and CV-B on Pt1_S and Iso_PT1_S

These findings are consistent with the recombination hypothesis and confirm the presence of only the recombinant variant in the examined samples; in addition the presence of the same pattern of amplification obtained by the analysis of the virus in serum sample and the one isolated from cell culture, revealed that the recombination was not generated by the isolation procedure.

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Detection of recombinant breakpoint in the genome of human enterovirus E11 strain associated with a fatal nosocomial outbreak - Virology Journal -...

It has been almost 44 years years since the first in vitro fertilisation (IVF) procedure was successfully performed in 1978 in Lancashire, England. Since then, more than 8 million babies have been born worldwide to assisted reproductive technologies, such as IVF.

But despite its increasing use, the success rate of IVF still remains relatively low, at around 30%. There may be a number of reasons for this. In our recent paper, we argue that this low rate is partially due to the many unfavourable genetic changes that we carry in our DNA.

Genetic changes happen when mutations in our genes replace, insert or delete sections of DNA. More of these mutations are occurring now in humans because were having babies at a later age. As we get older, more mutations are likely to accumulate meaning older parents are more likely to pass on genetic mutations to their children than younger parents. Mutations may also be caused by environmental factors (such as ultraviolet radiation in sunlight), or lifestyle choices (for example, smoking).

All of the genetic changes we inherit or develop throughout our lifetime constitute whats known as our genetic load. This genetic load can impact our ability to reproduce. And as our study suggests, this may also affect our ability to reproduce via methods such as IVF.

Genetic mutations make evolution possible. They provide the new material for natural selection that allows species to adapt and evolve. While most of these mutations have no effect, some are slightly harmful. Such harmful mutations may cause diabetes or breast cancer, for example or they may disrupt the healthy development of an embryo.

Human DNA carries more than 1,000 harmful mutations, most of which happened many generations ago. Yet, even though they are harmful, they have not (yet) been removed, because natural selection is a very slow process.

In addition to the large number of old mutations, new mutations also enter the population every generation. On average, every person acquires approximately 70 new mutations during their lifetime. But since some of these mutations are harmful, they need to be removed by natural selection, so that they arent passed on to future offspring. One of the most important times this happens is during natural conception.

When a child is conceived naturally, the body has many mechanisms in place to remove some of these harmful mutations.

For example, the female reproductive system is designed in such a way that only the fittest sperm cells can reach the egg for fertilisation. Although evidence is scarce, animal studies suggest that the sperm that reach the fertilisation site have a better DNA quality and potentially fewer mutations.

Mature eggs also undergo a sort of quality check during fertilisation. This too helps purge some of the genetic load. The implantation stage (where a fertilised embryo implants itself in the mothers womb) is also important, as many embryos with severe genetic abnormalities tend to be lost naturally during pregnancies.

However, IVF bypasses some of these natural mechanisms. During IVF, multiple eggs are harvested from the womans ovaries and fertilised with sperm in a laboratory. After they have been fertilised, the embryos are then returned to the womb. This reduces the opportunity for natural selection, which may therefore make IVF less efficient in reducing the genetic load. This could potentially increase the likelihood that harmful variants of genes may be passed onto the next generation.

So, the genetic load has two big implications for human reproduction. First, the genetic load of parents affects their ability to successfully reproduce. This is true both for natural conception, as well as for IVF. Second, by relaxing natural selection, IVF may let more mutations slip through the net. As such, it could slowly increase our genetic load in future generation. But there may be a solution.

Fertility rates have suffered an unprecedented decline in recent decades. In fact, sperm count has fallen by about 50 to 60% between 1973 and 2011. Its unclear why this is, but if this trend continues it could mean more people turn to IVF to conceive.

Yet we still know surprisingly little about human reproduction and the selective processes operating during natural conception. We must understand natural conception first if we want to improve assisted reproduction methods, including IVF. But recent technological advances in assisted reproductive technologies mean that we may soon be better able to counteract some of the genetic load in humans. For example selection at sperm level in the IVF process has been shown to improve the offspring fitness in animal models. In particular, selection of longer-lived sperm in zebrafish results in healthier offspring that live longer.

Advances in genomic technologies also have the potential to affect human evolution. Already, genomic data is effectively being used in clinical care, and the genomic bases of thousands of human diseases are now known. Furthermore, changes to our environment and our lifestyle are affecting the genetic load and human health. Most often, these changes have a negative effect, which makes these technological advances ever more important. As new advances are made, it will also be important to consider the potential consequences of using assisted reproductive technologies if these become the norm.

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IVF: heres how genetics may be affecting its success new insights - The Conversation Indonesia

Using DNA extracted from blood, tissue or skin samples, researchers looked for 566 mutations linked to disease, including 84 for cancer, 77 for heart conditions, and others affecting responses to medicines

Image: Reuters)

Whole genome sequencing could be offered to all adults on the NHS within five years to help millions cut their risk of conditions such as cancer and heart disease, experts have revealed.

Thousands of lives could be saved annually if the tests - which read a persons entire genetic code - were widely available, it was said.

In a study of 102 healthy patients at a GP surgery, one in four were found to carry actionable mutations.

These were changes to their genes which increased risk of certain diseases but could be mitigated through lifestyle changes, extra monitoring or other preventative measures.

Six in ten carried an inherited mutation in a recessive gene, meaning they were not affected by a condition but could pass it on to their children.

Detecting such mutations can guide healthcare decisions and enable more personalised treatment.

Study leader Professor Ros Eeles, an expert in oncogenetics at The Institute of Cancer Research in London, said the results could spark a revolution in healthcare, paving the way for testing to be rolled out to anyone who wants it in the next two to five years.

Image:

No countries are yet offering genome tests on this scale.

Prof Eeles added: Our findings suggest that integrating whole-genome sequencing into primary care could change the way most patients and their families are managed by their GPs.

Health Secretary Sajid Javid said genomics was changing the future of healthcare.

He added: This study shows the potential for genome sequencing in enabling patients with life-changing diseases to receive early diagnoses just by visiting their GPs in future.

The UK continues to lead the way in genomics expertise and this exciting collaboration between the Institute of Cancer Research, the NHS and the wider health sector has the potential to save lives by increasing the detection and prevention of diseases such as cancer and heart disease.

The study was the first to trial offering the tests at GP surgeries and recruited participants from The London Genetics Centre, at 90 Sloane Street.

A human genome contains around 20,000 genes made up of 3.2 billion letters of DNA.

Using DNA extracted from blood, tissue or skin samples, researchers looked for 566 mutations linked to disease, including 84 for cancer, 77 for heart conditions, and others affecting responses to medicines.

Some 26 patients had potentially actionable genetic variants, 61 had a recessive gene that could be passed on should their partner also carry it, and 38 had changes linked to medicine responses.

Dr Eeles, also a cancer consultant at The Royal Marsden NHS Foundation Trust, said the most common action taken as a result was more frequent screening for patients at risk of cancer.

One woman found to be at elevated risk of ovarian cancer chose to have her ovaries removed.

Another who frequently travelled discovered she was at high risk of deep vein thrombosis and now uses an injectable anticoagulant before flights to prevent blood clots.

Other possible benefits include the ability to select drugs that cause less side effects, or earlier prescribing of statins for people predisposed to have high-cholesterol.

People with mutations that could be passed onto their children can be offered IVF with embryo screening.

Around 70 per cent of those with actionable mutations would not have been identified through normal checks and family history.

Whole genome sequencing is available for certain conditions including some cancers and rare diseases.

Dr Eeles said her team was in discussions with NHS England and the tests could eventually become a routine part of GP registration.

She added: The power of new genetics really needs to be enhanced for healthcare and this is the first study along the way.

Its definitely coming. Theres a huge impetus in genome integration into healthcare in the UK.

Sequencing each patients genome cost 1,800 but researchers believe this can be cut to under 1,000 for the NHS.

Dr Eeles added: It sounds like a lot but to treat somebody with metastatic [cancer] you could be talking about 200,000 for two years of immunotherapy treatment.

Patients were not told about their risk of diseases with no known treatments, such as dementia. Specially trained staff helped them understand their results and deal with any concerns.

The findings will be presented at the American Society of Clinical Oncologys Annual Conference in Chicago.

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Genome sequencing could be offered to all adults on NHS in bid to defeat cancers - The Mirror

According to a new report published by Grand View Research, the future market potential of genomics in newborn screening programs, emerging companies like Counsyl and Natera have launched various genetic tests to maintain their competitive edge in the market.

Genomics Industry Overview

The global genomics market size was valued at USD 20.1 billion in 2020 andis expected to reach USD 62.9 billion by 2028, expecting to expand at a CAGR of 15.35%during forecast period.

The scientific community has tried to address genetic susceptibility and severity to SARS-CoV-2 infection by combining research efforts using existing genetic databases. Multiomic-based approaches and genome-wide association studies (GWAS) have been employed to uncover biological networks and common variants underlying host-pathogen interactions. Similarly, data derived from genomes, such as polygenic risk scores (PRS), ABO blood groups, and HLA haplotypes, can be potentially used to decipher COVID-19 complications, resistance, and susceptibility. Moreover, biobanks that link electronic health records (EHRs) to genomic data can be leveraged to study the impact of genomic factors on the clinical course of patients infected with SARS-CoV-2.

Gather more insights about the market drivers, restrains and growth of the Global Genomics Market

The COVID-19 Host Genetics Initiative launched by researchers from the Finnish Institute for Molecular Medicine (FIMM) aims to inspire the human genetics community to analyze, share, and generate data to interpret determinants of COVID-19 outcomes, severity, and susceptibility. deCODE genetics, a genomics solutions provider in Iceland, has used SARS-CoV-2 genomic analysis to monitor the viral spread.

In addition, the company has partnered with the Government of Iceland to conduct genome sequencing of viral hosts. Similarly, the government of Greece funded the COVID-19-GR initiative to genotype 3,500 COVID-19 patients, conduct WGS on the SARS-CoV-2 genome obtained from these patients, and conduct immunogenomic analyses. The complete set of this data along with detailed clinical information is available and can be retrieved from the Greek COVID-19 registry.

In the near future, prenatal genetic screening programs are likely to grow at a significant pace. This is because these programs help expectant mothers identify chromosomal anomalies in their offspring. Moreover, it is anticipated that in the next 10 years, every newborns genome would be sequenced and stored in the electronic medical record. Gauging the future market potential of genomics in newborn screening programs, emerging companies like Counsyl and Natera have launched various genetic tests to maintain their competitive edge in the market.

Genomics Market Segmentation

Based on the Deliverable Insights, the market is segmented into product ad services

Based on the Application and Technology Insights, the market is segmented into functional genomics, pathway analysis, biomarker discovery, epigenetics and others

Based on End-use Insights, the market is segmented into pharmaceutical and biotechnology companies, hospitals and clinics, academic and government institutes, clinical research and other end users

Based on the Regional Insights, the market is segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa

Market Share Insights:

Key Companies Profile:

Companies are increasingly focusing on the development and launch of new products and collaboration with other entities to increase their market share.

Some prominent players in the global genomics market include:

Order a free sample PDF of the GenomicsMarket Intelligence Study, published by Grand View Research.

About Grand View Research

Grand View Research is a full-time market research and consulting company registered in San Francisco, California. The company fully offers market reports, both customized and syndicates, based on intense data analysis. It also offers consulting services to business communities and academic institutions and helps them understand the global and business scenario to a significant extent. The company operates across multitude of domains such as Chemicals, Materials, Food and Beverages, Consumer Goods, Healthcare, and Information Technology to offer consulting services.

Web: https://www.grandviewresearch.com

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Genomics Market Size Is Expected To Reach $62.9 Billion By 2028, Based on High Demand For Advanced Gene-Editing Tools From Biotechnology Companies |...

NEWCASTLE, United Kingdom Scientists at Newcastle University report the discovery of a new hereditary disease called TULP3-related ciliopathy. Caused by a faulty inherited gene, this condition can result in either liver or kidney failure among both adults and adolescents.

Both kidney and liver failure, of course, can stem from a number of different causes. Organ failure can be life-threatening if left untreated, but many patients find it difficult to get an accurate diagnosis. As one can imagine, this makes settling upon the best possible treatment option near impossible.

Study authors have found that a faulty gene is the catalyst for increased fibrosis in both the liver and kidney. More fibrosis often results in the patient needing a transplant.

Our finding has a huge implication for better diagnosis and management of kidney and liver disease in some patients, says Professor John Sayer, Deputy Dean of Clinical Medicine at Newcastle, in a university release. What we are now able to do is give some patients a precise diagnosis, which allows their treatment to be tailored to their needs for the best possible outcome.

Researchers reviewed each studied patients clinical symptoms, and also collected biopsies and genetic sequencing data. Ultimately, the team identified 15 patients from eight families as having the new disease. They then utilized urine collected from those 15 patients to grow cells in a lab setting. Analysis of those lab-grown cells helped the team investigate the precise defect behind TULP3-related ciliopathy.

Over half of all study participants needed a liver or kidney transplant. Before this work, the original cause for their organ failure was a mystery.

We were surprised at how many patients we were able to identify with TULP3-related ciliopathy and this would suggest that the condition is prevalent within those with liver and kidney failure, Prof. Sayer explains. We hope to provide a proper diagnosis for many more families in the future. This work is a reminder that it is always worth investigating the underlying reasons for kidney or liver failure to get to the bottom of the condition.

Finding a genetic cause of liver or kidney failure has huge implications for other family members, especially if they are wishing to donate a kidney to the patient, the researcher adds.

Moving forward, the team at NU will keep working on this topic. They plan to analyze cell lines taken from relevant patients, and test more potential new treatments for TULP3-related ciliopathy.

Linda Turnbull, one of the 15 patients identified as having the new condition, received a new liver decades ago. Now in her 60s, doctors diagnosed Linda with liver failure at just 11 years-old. All these years later, she finally has a better idea of what happened.

It is brilliant to finally have an answer to my life-long questions: Why has this happened to me and why do I have this condition, she comments. Its fantastic that this research has been led in Newcastle and it means that people in the future will have information regarding their condition and how best to treat it.

The study is published in the American Journal of Human Genetics.

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New disease affecting the kidneys and liver discovered - Study Finds