Category Archives: Embryology

Scientists Think They’ve Traced the Very First Mutations in a Human Life – ScienceAlert

For the first time, scientists have caught a glimpse of the earliest genetic mutations in human development.

Using whole genome sequencing, they wound back time on cell samples from adults and revealed what took place in the genome when they were still microscopic embryos. It turns out, our first two cells contribute to our development in very different ways.

Mutations come in two forms:the hereditary ones we get from our parents, which can be found in virtually every cell of the body; and the acquired (or somatic) mutations that can occur at any stage of a person's life, including those very first days when the embryo is just starting to split into multiple cells.

Somatic mutations don't necessarily cause problems, but they can sometimeslead to cancerand other diseases. They also don't necessarily live in every cell (that's calledmosaicism).

We have a fairly murky understanding of the somatic mutations that happen during the earliest life stages, because we can't just watch that stuff happening in real time.

But now researchers have discovered a way to trace these mutations back to their first appearance.

"This is the first time that anyone has seen where mutations arise in the very early human development. It is like finding a needle in a haystack," says geneticist Young Seok Ju from the Wellcome Trust Sanger Institute in the UK and the Korea Advanced Institute of Science and Technology.

"There are just a handful of these mutations, compared with millions of inherited genetic variations, and finding them allowed us to track what happened during embryogenesis."

To find these mutations, the team analysed blood and tissue samples from 279 people with breast cancer.Using samples from cancer patients allowed them to test whether mutations were present in both normal blood and tissue, and in surgically removed tumour samples.

Since breast cancer tumours develop from a single cell, a somatic mutation would either be present in every tumour cell, or not at all, which gives a clue to its possible origins.

By tracking and comparing the spread of different mutations in these various tissue samples, the scientists verified a whopping 163 mutations that must have happened within the first few cell divisions of the persons' embryonic development.

This gave them a unique insight into how early embryonic cells interact.

And that's not all - a statistical analysis revealed that when a fertilised egg divides for the first time, those two cells actually contribute building material for the rest of the body at different proportions.

It appears that one of the first two cells that make us up gives rise to 70 percent of the body tissue, while the other one chips in for the rest.

"We determined the relative contribution of the first embryonic cells to the adult blood cell pool and found one dominant cell - that led to 70 percent of the blood cells - and one minor cell," says molecular biologist Inigo Martincorena from the Sanger Institute.

"This opens an unprecedented window into the earliest stages of human development."

That's exciting, because having that window will let us discover even more about how humans develop and acquire various mutations from the get-go.

Even though the vast majority of mutations are random and harmless, occasionally they can affect an important gene, causing a developmental disorder or a disease.

"Essentially, the mutations are archaeological traces of embryonic development left in our adult tissues, so if we can find and interpret them, we can understand human embryology better," says lead researcher Mike Stratton, director of the Wellcome Trust Sanger Institute.

The researchers hope their discovery is just the first of many steps that will help us gain a better understanding of what happens to humans in the earliest days, when we're all nothing more than just a clump of cells.

The research was published in Nature.

Read the rest here:
Scientists Think They've Traced the Very First Mutations in a Human Life - ScienceAlert

Embryology Academy for Research Training

Dr. Asuncion Fernandes, St. Lukes Medical Centre, Quezon City, PhilippinesDr. Mike Macnamee, MSc, PhD, Chief Executive, Bourn Hall Clinic, Cambridge, UK Lets Do ICSI 03rd - 07th Dec 2007 Shabaan AI-Dahha, HOD Basra Medical College, Basra, Iraq - Lets Do ART, Special Bath 18th Feb - 01st March 2008Dr. Dandapani Banerjee, Kolkata, India Dr. Alka Sen, Sen Maternity & Eye Hospital (P) Ltd, Agra, IndiaDr. Asheesh Gude, Sinai Fertility Center, Margo, Goa, India. Dr. Sanjukta Saha, Moulana Bhasani Medical College, Dhaka, Bangladesh Dr. Faiz Alwaeely, Asst Professor, Basra Medical College, Basra, IraqDr. Shamima Dawood, Linmed Hospital, Johanesburg, South AfricaA moment of Pride - Bourn Hall Clinic Team with the traineesDr. Sabina Shreshta, Om Hospital, Katmandu, NepalBackground-Dr. Earnest J. Moloi, Medi Clinic, Welkom, South Africa Foreground-Dr. Mohammad Ahmad Maarouf, RomaniaDr. Lucy Coleman, Whiltshire, UK Dr. Sanjay Gandhi,City Gem IVF, Dessa, Gujarat. India.

More here:
Embryology Academy for Research Training

First Mutations in Human Life Discovered – Laboratory Equipment – Laboratory Equipment

The earliest mutations of human life have been observed by researchers at the Wellcome Trust Sanger Institute and their collaborators. Analysing genomes from adult cells, the scientists could look back in time to reveal how each embryo developed.

Published in Nature, the study shows that from the two-cell stage of the human embryo, one of these cells becomes more dominant than the other and leads to a higher proportion of the adult body.

A longstanding question for researchers has been what happens in the very early human development as this has proved impossible to study directly. Now, researchers have analyzed the whole genome sequences of blood samples (collected from 279 individuals with breast cancer) and discovered 163 mutations that occurred very early in the embryonic development of those people.

Once identified, the researchers used mutations from the first, second and third divisions of the fertilized egg to calculate which proportion of adult cells resulted from each of the first two cells in the embryo. They found that these first two cells contribute differently to the whole body. One cell gives rise to about 70 percent of the adult body tissues, whereas the other cell has a more minor contribution, leading to about 30 percent of the tissues. This skewed contribution continues for some cells in the second and third generation too.

Originally pinpointed in normal blood cells from cancer patients, the researchers then looked for these mutations in cancer samples that had been surgically removed from the patients during treatment. Unlike normal tissues composed of multiple somatic cell clones, a cancer develops from one mutant cell. Therefore, each proposed embryonic mutation should either be present in all of the cancer cells in a tumor, or none of them. This proved to be the case, and by using these cancer samples, the researchers were able to validate that the mutations had originated during early development.

"This is the first time that anyone has seen where mutations arise in the very early human development. It is like finding a needle in a haystack. There are just a handful of these mutations, compared with millions of inherited genetic variations, and finding them allowed us to track what happened during embryogenesis," said Young Seok Ju, first author from the Wellcome Trust Sanger Institute and the Korea Advanced Institute of Science and Technology (KAIST).

"Having identified the mutations, we were able to use statistical analysis to better understand cell dynamics during embryo development. We determined the relative contribution of the first embryonic cells to the adult blood cell pool and found one dominant cell - that led to 70 percent of the blood cells - and one minor cell. We also sequenced normal lymph and breast cells, and the results suggested that the dominant cell also contributes to these other tissues at a similar level. This opens an unprecedented window into the earliest stages of human development," said Inigo Martincorena, from the Sanger Institute.

During this study, the researchers were also able to measure the rate of mutation in early human development for the first time, up to three generations of cell division. Previous researchers had estimated one mutation per cell division, but this study measured three mutations for each cell doubling, in every daughter cell.

Mutations during the development of the embryo occur by two processes - known as mutational signatures 1 and 5. These mutations are fairly randomly distributed through the genome, and the vast majority of them will not affect the developing embryo. However, a mutation that occurs in an important gene can lead to disease such as developmental disorders.

"This is a significant step forward in widening the range of biological insights that can be extracted using genome sequences and mutations. Essentially, the mutations are archaeological traces of embryonic development left in our adult tissues, so if we can find and interpret them, we can understand human embryology better. This is just one early insight into human development, with hopefully many more to come in the future," said Mike Stratton, lead author on the paper and director of the Sanger Institute.

See the original post here:
First Mutations in Human Life Discovered - Laboratory Equipment - Laboratory Equipment

Free embryology Books Download | Ebooks Online Textbooks

This section contains free e-books and guides on embryology, some of the resources in this section can be viewed online and some of them can be downloaded. Embryogenesis Ken-ichi Sato Online | 652 Pages | English The book is a compilation of cutting edge views of current trends in modern developmental biology, focusing on gametogenesis, fertilization, early and/or late embryogenesis in animals, plants, and some other small organisms.

More:
Free embryology Books Download | Ebooks Online Textbooks

Nuclear-test films, smoking declines and five new particles – Nature.com

Facilities | Events | Policy | Funding | Awards | Research |Pharmaceuticals | Trend watch | Coming up

Integrity office On 15 March, Taiwans ministry of science and technology established an office tasked with tracking cases of scientific fraud. Modelled after the US Office of Research Integrity, Taiwans office will collect details of such cases in Taiwan and elsewhere and compile them into a database. This will include information about how cases were handled and will serve as a reference tool for future fraud investigations. The announcement comes in the midst of a high-profile misconduct case that has so far led to the firing of two scientists from the prestigious National Taiwan University, although the new office will not be involved in the investigation.

US puts nuclear-test films on YouTube Dozens of declassified films of US nuclear tests have been digitized and made available on YouTube, the Lawrence Livermore National Laboratory in California announced on 14March. The videos show footage taken by high-speed cameras of some 210atmospheric explosions of both atomic and thermonuclear bombs conducted between 1945 and 1962 (pictured, a still frame of a 1962 nuclear test over Christmas Island). Of an estimated 10,000 films in existence, about 6,500 have been catalogued, 4,200 have been digitized and 750 declassified, the lab said. The purpose of the project is to preserve the videos and provide data for nuclear-weapons experts, as well as making the public aware of the weapons destructiveness.

Lawrence Livermore National Laboratory

A still frame from a declassified video of 'Bighorn', a 1962 US nuclear test part of Operation Dominic, over Christmas Island.

Fertility step The United Kingdom moved a step closer to allowing the creation of a baby by means of controversial invitro fertilization techniques that use the DNA of three people. The methods prevent the inheritance of genetic disorders caused by mutations in mitochondrial DNA. On 16March, the countrys regulator of fertility treatment, the Human Fertilisation and Embryology Authority, granted the Newcastle Fertility Centre at Life a permit to conduct mitochondrial replacement therapy. People wishing to undergo treatment must still be approved individually by the regulator.

Weedkiller ruling The European Chemicals Agency concluded on 15March that the widely used but controversial weedkiller glyphosate is not a carcinogen. The chemical has been subject to a long-running dispute about its safety: critics fear that the chemical causes cancer, but many experts say that it is safe. The ruling paves the way for a resolution of a heated debate in the European Union over whether use glyphosate should be reauthorized. Last July, the European Commission issued a temporary 18-month extension for glyphosates use after member states could not agree on whether to issue a long-term authorization.

Ecological site The US National Science Foundation announced on 15March that it had set aside US$5.6 million to fund another Long-Term Ecological Research (LTER) site in Alaska. The project will focus on coastal ecosystems in the Beaufort Sea, where lagoons support extensive fisheries and migratory bird populations. Researchers will collaborate with the Iupiat communities that rely on the ecosystems for subsistence hunting, and will create research opportunities for young members of the Iupiat community. There are three other LTERs in Alaska, and 28 in total in the United States.

US budget plan US President Donald Trump proposed sweeping cuts to several science agencies in his first budget request, published on 16March. Hardest hit would be the Environmental Protection Agency; the plan proposes slashing its US$8.2billion allocation by 31%. The National Institutes of Healths funding would be cut by 18%, to $25.9billion. By contrast, the proposal suggested trimming NASAs budget by just under 1%. But the White House seems poised to shift the agencys priorities to deep-space exploration rather than Earth-centric research. The document omitted detail about some agencies, including the National Science Foundation, but the president is expected to release a fuller budget request in May. It is not clear how much of the plan will survive negotiations in Congress.

B. Eymann/Academie des sciences

Yves Meyer

Maths prize Mathematician Yves Meyer of the cole Normale Suprieure ParisSaclay has won the 2017 Abel Prize, the Norwegian Academy of Science and Letters announced on 21March. The academy cited Meyers pivotal role in the 1980s in establishing the theory of wavelets tools used for signal processing, file compression and data analysis. Wavelets were crucial to the 2015 discovery of gravitational waves. The prize of 6million Norwegian kroner (US$710,000) is one of the most prestigious in mathematics.

Hottest year The World Meteorological Organization confirmed on 21March that 2016 was the warmest year on record in all major data sets that track global surface temperature. The mean temperature was 0.06C above the previous record, set in 2015, calculated from data maintained by the US National Oceanic and Atmospheric Administration, NASA and the UK Met Office Hadley Centre. The three data sets extend back to at least 1880, but differ in the areas they cover. Warming in 2016 was most pronounced in data-sparse regions at high northern latitudes. The global mean temperature last year was 0.83C above the 196190 climate reference period and 0.62C above the 19812010 average.

Five new particles Five particles have been discovered by the LHCb experiment at CERN, Europes particle-physics lab near Geneva, Switzerland. Found by spotting their decays into more-familiar entities, the particles are variations on a known particle called Omega-c-zero (c0). Like protons or neutrons, c0 contains three quarks, but it is made up of the exotic strange and charm varieties (R.Aaij et al. Preprint at https://arxiv.org/abs/1703.04639; 2017). The five particles are heavier, high-energy states of c0, each with a different mass, which physicists had anticipated but until now never seen. The discovery should help physicists to understand more about how quarks bind together.

Low polar ice This year, both Arctic and Antarctic sea-ice levels hit record lows for the month of February, the US National Oceanic and Atmospheric Administration said on 17March. As Arctic sea ice approached its maximum annual extent, its February average measured 7.6% below the 19812010 average for the month. The Antarctic, around the time of the annual maximum melt, saw average ice coverage plummet to 24.4% below the February average. Ice in the south is notoriously variable; it marked a record high maximum just three years ago.

Smoking success The World Health Organizations landmark convention on tobacco control, which came into force in 2005 and committed signatories to introducing anti-smoking policies, seems to have driven down smoking worldwide, according to a study published on 21March (S. Gravely etal. Lancet Pub. Health http://dx.doi.org/10.1016/S2468-2667(17)30045-2; 2017). Researchers analysed data from 126countries, and showed a strong association between smoking declines in 200515 and the implementation of five key measures: tobacco taxes, smoke-free policies, warning labels, support for quitting, and advertising bans. Every measure implemented was associated with an average decrease in smoking prevalence of 1.57percentage points.

Cholesterol drug A large clinical trial of a cholesterol-lowering drug that targets a protein called PCSK9 has shown that the compound can reduce the risk of heart disease and stroke. The US Food and Drug Administration approved evolocumab (Repatha) in 2015 for lowering the bad cholesterol LDL. The results of a trial with more than 27,500participants, published on 17March, now show that evolocumab which attempts to mimic a beneficial genetic mutation also reduces the risk of death due to heart attack and stroke by about 20% in people taking other cholesterol-controlling drugs called statins (M.S.Sabatine etal. N. Engl. J. Med. http://doi.org/b4j9; 2017). But the reduction in risk is not as high as had been hoped; many researchers had expected PCSK9-targeting drugs to be the next generation of blockbuster treatments.

Global carbon dioxide emissions from energy production remained flat for a third straight year in 2016, despite a growing global economy, the International Energy Agency (IEA) said on 17March. The flattening is mainly a result of rising renewable-energy generation and improved energy efficiency. Growing use of nuclear power also contributed. But the halt in emissions growth is not enough to keep global temperatures from rising by 2C above pre-industrial levels, the IEA notes.

25 March Physicists discuss how to catch a gravitational wave, at the Kavli Institute for Theoretical Physics in Santa Barbara, California.

15 April The annual meeting of the American Association for Cancer Research takes place in Washington DC.

Visit link:
Nuclear-test films, smoking declines and five new particles - Nature.com

Blue Mountain students learn lesson from chicks – Republican & Herald

Article Tools

ANDY MATSKO/STAFF PHOTOS Fourth-graders in Shannan Burciks class watch chicks in their classroom at Blue Mountain Elementary East. The chicks are part of an embryology project for a lesson on the life cycle.

ANDY MATSKO/STAFF PHOTO Blue Mountain Elementary East fourth graders raised chicks in their classroom on Monday, March 20, 2017.

ORWIGSBURG Fourth-grade students at Blue Mountain Elementary East are using chicks to learn about the life cycle.

About 105 children in the five fourth-grade classes are participating in the embryology project.

They all have different personalities. Some are jumpy. Some are calm, Merik Brayford, 10, a student in teacher Shannan Burciks class, said.

The project started Feb. 21. Sixty eggs were provided by a local 4-H club. More than half have hatched and one died. The lesson extended outside the classroom on March 13 when the students watched the chicks on Facebook after the teachers took them home because of Winter Storm Stella.

On Monday, the students had the opportunity to interact with the chicks. Burcik said the chicks will go to local farms this week to live long, healthy, happy lives.

The first chick in Burciks class was born Wednesday. Ten of the 12 eggs in her the class have hatched.

Dont squeeze him, one student said.

The children were taught the proper way to hold the chick in the palm of the hand and to gently protect it with the other hand.

The chicks were kept in a plastic container with a heat lamp. They were fed corn meal and water.

Burcik said having the eggs at her house and their subsequent hatching was like having a newborn at the house. She said the chicks needed care and attention.

They love their bellies rubbed, Burcik said.

Oddly, she said she thinks they like Frank Sinatra music, because they seemed happy.

Some of the students said it was hard to concentrate on their lesson Monday because of all the noise the chicks made.

The opportunity to experience the life of the chicks firsthand is not something you get out of a textbook, Burcik said.

She said the children were in awe of the chicks and each one means something special to them.

A chick named Wobbles has difficulty walking, so a rubber band was tied around his legs to help him walk better. Lucky Chick was born on St. Patricks Day and Hope is named after someone who has medical issues. Dynamite is one of the most active of the group.

Dynamite is very spunky. Hes actually the teenager of the group, Burcik said.

Ian Correll, 9, said he liked Dynamite the best.

He jumps all over the place. He makes all the class laugh. Hes very wild, he said.

The children didnt want their new friends to go.

Let me take them home, they said.

Read this article:
Blue Mountain students learn lesson from chicks - Republican & Herald

Media Release: Leading interiors specialist appoints healthcare consultant, as it announces impressive growth – allmediascotland.com (press release)

ONEof Scotlands leading commercial interiors specialists, afh Strategic Contracts Ltd, has announced the appointment of Paul Mitchell as healthcare consultant as it reports impressive growth.

afh Strategic Contracts, which specialises in interior design and fit-out services, is a market leader across hotel and leisure as well as corporate and public sectors, and this year is celebrating its tenth year in business.

In recent years, the company has been responsible for revamping the interiors of Macdonald Hotels across Scotland as well as the fit-out of 200 St Vincent Street, Glasgow, and multiple sites across the UK for Webhelp, a major call centre operator.

Mr Mitchells appointment represents a desire by afh Strategic Contracts to build on its growth into the highly-specialised healthcare interior design market.

Recent healthcare projects undertaken by afh Strategic Contracts include the full fit-out of two new clinics for The Fertility Partnership in Maidenhead and Chelmsford as a combined project costing in excess of 1.8m. The clinic builds included IVF/andrology labs, operating theatres and cryobank storage facilities.

Bringing a wealth of experience in the private UK healthcare sector, Paul studied Biology at the University of Strathclyde and completed his clinical embryology training at one of Londons most prestigious Harley Street fertility (IVF) clinics.

Paul, together with two colleagues, went on to design, build and launch the Glasgow Centre for Reproductive Medicine, becoming managing director in 2010.

Glasgow-based afh Strategic Contracts was founded in 2007 by Alex Hutton, Thomas Carey and a team of experienced commercial interior sector specialists with over 50 years collective experience

In the year to 31st January 2017, the companys turnover was 5.5m with pre-tax profits 15 per cent ahead of the previous financial year and forecasts for a further 15 per cent growth over the next financial year.

Alex Hutton, managing director of afh Strategic Contracts, said: We have created a very successful track record in the hotel and leisure, corporate interiors and call centre sectors and are now building our presence in the specialist healthcare and IVF sector.

Healthcare in the UK has been one of the sectors that has attracted significant investment in recent times.

Facilities offering IVF treatment services continue to be a strong growth area with an estimated 10-15m to be invested over the next three years. We have been involved with several IVF clinic builds in recent times and to ensure we are best placed to attract further business, we are very pleased to announce the appointment of Paul Mitchell as our new healthcare consultant.

Paul Mitchell, said: Having built up my career in the healthcare sector it is extremely exciting to be working as a consultant with afh Strategic Contracts at a time when they are forging great advancements and building their reputation in the healthcare sector.

Expert knowledge of this sector is vital its a very different market from the corporate world. IVF clinics have clearly defined and stringent performance criteria and in order to meet high quality assurance standards, it is imperative the initial design, construction and ultimate fit out of each clinic is appropriate.

Clients on the companys portfolio have included Mactaggart & Mickel, Holiday Inn, Sky Park, City Building, sportscotland, Thames Valley Fertility, the Glasgow Centre for Reproductive Medicine (GCRM), GCRM Belfast, the University of Strathclydes Advanced Forming Research Centre, as well as Macdonald Hotels, Webhelp UK and 200 St Vincent Street, Glasgow.

ENDS

Picture caption: Paul Mitchell, newly-appointed healthcare consultant, afh Strategic Contracts.

For further information, please contact Lorna Gardner or Rachel Woodford at Media House on 0141 220 6040 or email lorna@mediahouse.co.uk / rachel@mediahouse.co.uk

Notes for editors:

afh Strategic Contracts offers a full project management and interior design service for a wide range of clients throughout the UK across a variety of sectors including hotel and leisure, commercial office, retail and education.

For further information, please visit http://www.afhstrategiccontracts.co.uk

MEDIA RELEASEissued by Media House International.You too can share your stories(aka press or media releases), on allmediascotland.com. Emailherefor more information.

Check outtwitter.com/newsdipperfor your very own media releases feed

Stay connected with our various twitter feeds:Charities,Drink,Education,Energy,Fashion,Film,Food,Gardens,Legal,Motors,Music,Outdoors,Property,ScienceandSports. And not forgettingFinance,Theatre,Travel,Festivals,Visual Arts,Aberdeen,Dundee,Edinburgh,Glasgow,Inverness,PerthandStirling.

To catch up on all the media releases recently posted on to allmediascotland.com, you need only click the link icon that you see towards the bottom right of our two media release gateway boxes.

Its this icon, here. Its your route straight into the rich archive.

Media House Internationalcontact details

Contact: Gary McQueen

Email: gary@mediahouse.co.uk

Here is the original post:
Media Release: Leading interiors specialist appoints healthcare consultant, as it announces impressive growth - allmediascotland.com (press release)

Three parent baby born in UK hospital | Business Recorder – Business Recorder (press release) (registration) (blog)

Baby parented by three individuals, was given birth this Thursday in a UK hospital, the very controversial technique was legalized by the parliament in December, in attempts to thwart inherited diseases.

According to the Huffington post, the technique was not taken ahead by the doctors at the Newcastle Fertility Centre until the individual parent agreed on it.

This significant decision represents the culmination of many years hard work by researchers, clinical experts and regulators," said Sally Cheshire, head of the human fertilization and embryology authority.

"Patients will now be able to apply individually to the HFEA(Human Fertilization and Embryology Authority) to undergo mitochondrial donation treatment at Newcastle, which will be life-changing for them, as they seek to avoid passing on serious genetic diseases to future generations," she said.

The human cell comprises of two DNA structures, one is nuclear DNA which is present in the nucleus of cell and the other DNA is mitochondrial DNA which is present in the cytoplasm of the cell. Unlike the nuclear DNA which is inherited half from mother and half from father, the mitochondrial DNA is inherited only from the mother that has been a source to some inherited disease affecting 1 in every 5000 births. This technique allows replacing the defected mitochondrial DNA with a perfect one minimizing the possibilities of the disease.

Many years of research have led to the development of pronuclear transfer as a treatment to reduce the risk of mothers transmitting diseases to their children, Mary Herbert, a professor of reproductive biology at Newcastle Fertility Centre and Newcastle University, said in a statement. Its a great testament to the regulatory system here in the UK that research innovation can be applied in treatment to help families affected by these devastating diseases.

This is an invitro-fertilization technique that requires the pronuclei the nucleus of the sperm and the egg during the process of fertilization from an embryo containing the mothers unhealthy mitochondria. These pronuclei are then inserted in a donor embryo containing healthy mitochondria, stated in Rawstory Post.

The baby with this technique will have a genetic makeup from all three parent, one male and two mothers.

A Jordanian couple was the first to parent a baby born through this technique in Mexico, which was led by a team of U.S. doctors, the reason for using this technique was to avoid Leigh Syndrome a neurological disorder that is transferred by the mothers mitochondria and is fatal in early childhood.

The techniques were also opposed by UK churches on both ethical and psychological grounds.

Read the original post:
Three parent baby born in UK hospital | Business Recorder - Business Recorder (press release) (registration) (blog)

World’s first licence for mitochondrial donation IVF may enable … – News-Medical.net

March 20, 2017 at 8:07 AM

Eminent UK reproductive and genetics experts have become the first in the world licensed to provide a revolutionary IVF procedure using donor DNA which they spent decades developing enabling women carrying potentially fatal mitochondrial disease to have healthy, genetically-related babies.

Mitochondrial donation to prevent mitochondrial disease has been permitted in the UK since pioneering legislative changes in 2015 and endorsement in 2016 by the Human Fertilisation and Embryology Authority (HFEA), establishing the worlds first regulated system to provide mitochondrial donation.

Today the HFEA granted the first clinical mitochondrial donation licence to the Newcastle Fertility Centre at the International Centre for Life in Newcastle-upon-Tyne, United Kingdom.

Australian Mitochondrial Disease Foundation (AMDF) CEO Sean Murray applauded the licensing as a major step forward for the mitochondrial disease community worldwide, and congratulated Mary Herbert, Professor of Reproductive Biology at the Institute of Genetic Medicine, and her team.

Professor Herberts work developing and refining mitochondrial donation has been widely published and is internationally-renowned, along with colleague Professor Sir Doug Turnbull, director of the Wellcome Trust Centre for Mitochondrial Research at the Institute of Neuroscience, Mr Murray said.

Its very exciting that women can now access mitochondrial donation through licensed, reputable clinicians in the UK who are world experts in mitochondrial disease and reproductive technologies.

The UK Government and regulators have undertaken a rigorous and comprehensive global scientific and ethical review of the treatment over a ten-year period.

Each painstaking step has added to the evidence the AMDF expects the Australian Government to consider in changing our laws to make mitochondrial donation available to Australian women, he said.

Mitochondrial donation in the UK is restricted to women at risk of having a baby suffering severe mitochondrial disease, a debilitating genetic disorder that starves the bodys cells of energy, impairing major organs like the brain, heart, liver, muscles, ears and eyes.

The disease has few treatments and no cure and can cause any symptom in any organ at any age.

The procedure is subject to numerous safeguards overseen by the HFEA such as carefully selecting women to undergo the procedure as a clinical risk reduction treatment, providing full information about potential limitations and risk, undertaking genetic testing when the embryo is at 15-weeks gestation, and closely monitoring the outcomes over time.

Mitochondrial donation could prevent at least 60 Australian babies each year from suffering a severely disabling and life-threatening form of mitochondrial disease, Mr Murray said.

The Australian Mitochondrial Disease Foundation and local families affected by mitochondrial disease looks forward to the Australian Government following the UKs lead and amending our laws to give families here the choice to access mitochondrial donation to have healthy biological children.

Meanwhile, the first live birth of an apparently disease-free baby to a woman at risk of passing mitochondrial disease to her child was announced in September 2016 by US scientists who carried out the procedure in Mexico, where laws do not preclude it.

However, although the AMDF cautiously welcomed the news, Mr Murray said there is concern about the lack of published information, regulation or independent monitoring.

While this appears to be a promising development demonstrating a successful outcome for mitochondrial donation to prevent mitochondrial disease, the AMDFs Scientific and Medical Advisory Panel looks forward to details being published in a peer-reviewed journal so we can closely assess the matter, Mr Murray said.

Ukrainian scientists also announced the birth in January 2017 of a baby with donor mitochondrial DNA to a woman with unexplained infertility, but without mitochondrial disease, who had been unable to conceive with conventional IVF. Details have not been published to date.

The AMDF supports making mitochondrial donation techniques available to women at risk for having children with severe forms of mitochondrial disease that could lead to a child's early death or substantial impairment, he said.

We also support regulation and strict oversight of clinics offering the procedure and recognise it will be important to monitor outcomes closely, as it would be with any new IVF technique.

The AMDF does not currently support mitochondrial donation to treat infertility. As far as we are aware, its use for purposes other than preventing inheritable disease has not been subject to rigorous scientific and ethical review or research, as has been the case for preventing mitochondrial disease.

Mitochondrial donation involves transferring nuclear genetic material from the affected mothers egg into a donor egg that has had its nuclear DNA removed and retains only its healthy mitochondrial DNA.

The mothers and fathers nuclear DNA contributes more than 20,000 genes or 99.9 per cent of the babys genetic make-up and determines its appearance, intelligence, behaviour and other personal characteristics.

The 0.1 per cent contribution (37 genes) from the donor egg means the resulting babys cells can effectively convert food and oxygen into the energy needed to power its organs.

Mitochondria are the powerhouses of our cells that generate 90 per cent of the energy fuelling our bodies, particularly muscles and major organs. Depending on which parts of their bodies are most affected and to what extent, people with mito can lose their sight or hearing, be unable to walk, eat or talk normally, have strokes or seizures, develop liver disease or diabetes, suffer cardiac, respiratory or digestive problems, or experience developmental delays or intellectual disability.

More than 1 in 200 Australians at least 120,000 people have genetic mutations that predispose their mitochondria to fail early, and may develop mitochondrial disease sometime in their lives. Many people are symptomatic but undiagnosed or misdiagnosed, some are not yet symptomatic, and others are unknowingly at risk of passing the disease to their unborn children.

Original post:
World's first licence for mitochondrial donation IVF may enable ... - News-Medical.net

My all girls’ school: empowering, feminist and sexist – Varsity Online

Michelle Taute busts the myth that all girls schools are free from sexism

One of the myths surrounding all girls schools is that sexism is non-existent. This is, after all, the subliminal message of marketing campaigns by such institutions, whose rhetoric focuses on the idea that girls are only able to reach their full potential through a dearth of their male counterparts. Many parents and students alike are convinced that discrimination based on gender will be prevented by simply excluding the opposite sex. As someone who has attended three all-girls schools in both England and South Africa, I am not convinced.

What we had failed to notice, was that this sexism was not just the misinformed opinion of a few, but was actually an institutional problem.

In many ways, the school I attended prior to Cambridge was at the forefront of battling sexism. Our headmistress was heavily involved in the Girls School Association and advocated the role of single-sex education in enabling the breaking of the glass ceiling. She espoused the belief that being a woman was not a limiting factor but an empowering one. This doctrine pervaded every level of my schools society. One of its most obvious manifestations was in our PSHE sessions. Overwhelmingly, our guest speakers were women who had come to share their experiences on how they had challenged the limitations put on them by virtue of their gender. Two of our most impressive speakers were Baroness Butler-Sloss and Baroness Warnock. The former is famous for being the first female Lord Justice of Appeal, while the latter helped to advise the government on embryo experimentation and chaired the Committee of Inquiry into Human Fertilisation and Embryology. Both are incredibly influential members of society who are testimonies to the capabilities of women. They are the living proof that women are mens equals. Their avowal that it is possible to be a woman and reach the highest echelons of your chosen profession was an axiom my fellow pupils and I embraced whole-heartedly. Ironically, it was one of the incidents of sexism at my school which made me most aware of this fact.

Tired of how our sixth-form kitchen had become a bio-hazard, teachers decided to put up posters saying: Clean up your mess, your mother doesnt work here! While the epigram had a salient point as to the kitchens hygiene, the student body was outraged by the blatant sexism. Overnight, these posters were embellished with pictures of men and were amended to nor does your father or, in some cases, the latter clause was simply replaced with parents. I was never as proud of my fellow students as I was that week.

Unfortunately, this was not the only incident of sexism. One of the male teachers was famous for his saying: An essay should be like a girls skirt. Short enough to be interesting but long enough to have everything covered. He was not the only member of staff to hold such views. Another teacher told his class how he would not marry a woman who would not cook his dinner for him. At the age of 60, you would have thought he had mastered this skill, but evidently not. Pupils, of course, laughed this off as a product of a bygone era. These were all old, white, male teachers. Their opinions seemed immaterial to us. Yet what we had failed to notice was that this sexism was not just the misinformed opinion of a few, but was actually an institutional problem.

Why getting women in STEM is a feminist issue

The educational programme I studied, the International Baccalaureate, promoted diversity. Yet despite this, only one of the 13 texts we studied for English Literature was written by a woman. Furthermore, all of the authors were white. Our teachers were at liberty to choose the works they wanted but clearly female, ethnically diverse, and LGBT writers were not high on their list. Even at Cambridge, the English course is dominated by male works. While each of these signs on their own can appear innocuous, in the bigger picture, they show a worrying trend to value women at a lower rate than men.

While my experiences at all girls schools were largely positive, sexism does remain an issue. More needs to be done to challenge both this everyday sexism and this institutional disregard for female contribution to academic debate in the wider world. I hope Cambridge will be at the forefront of this

See the article here:
My all girls' school: empowering, feminist and sexist - Varsity Online