Professor Edwin Kirk, Clinical Geneticist and Genetic Pathologist talks to us about the role genetics has played in bringing about a revolution in modern medicine.
He has spent the past 20 years at the Sydney Children's Hospital helping families understand a whole host of genetic conditions.
His new book is called The Genes That Make Us which explains the links between genetics and diseases.
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The Genetic Revolution - Nightlife - ABC News
A Boston consumer genetics company that has batted away former employees accusations of shoddy practices since at least 2019 is now under investigation by the state Department of Public Health for logging hundreds of false positive coronavirus test results, including some in Fall River and Taunton.
The company, Orig3n, has halted COVID-19 testing in the state. A company spokesman said the false positives were due to human error in processing the tests.
In August, after learning about the Massachusetts investigation, North Carolina issued a stop order for its coronavirus testing contract with the company, Orig3n.
The consumer genetics start-up, which claims it can tell customers what kind of foods they should eat and whether theyre predisposed to intelligence based on their DNA, has secured some of the biggest coronavirus testing contracts in the country.
According to an Orig3n spokesman, the company continues to offer COVID-19 testing elsewhere in the U.S.
So far, the Massachusetts DPH has found Orig3n sent out more than 300 COVID-19 tests wrongly classified as positive in Massachusetts, a number that could increase as DPH staff continue investigating. Orig3n claims the company isnt aware of any additional false positives. According to a Harvard epidemiologist and lab director, false negatives are far more difficult to discover, because most tests come back as negative.
Ted Owens, CEO at North Hills Pines Edge skilled nursing facility in Needham, one of roughly 60 long-term care facilities that used Orig3n test services, said in an Aug. 11 bulletin to residents and staff that Orig3n returned a total of 19 false positives to the nursing home.
The numbers didnt seem credible to Owens, but Pines Edge began immediately to take actions based on the working assumption that we needed to treat these results as correct.
It turned out that several other skilled nursing facilities also showed an unusual spike in positive cases last week, and oddly enough, all these facilities had used the same testing vendor, Owens continued. This caught the attention of the epidemiologists at Mass DPH, who intervened and instructed the vendor to re-test the samples.
Upon retesting, all of the positive tests were found to be negative.
The spike in cases -- which turned out to be false positives -- caused a panic in Needham. They came as the school district made plans to return to in-person learning, and a public health nurse for the town was asked to appear before its Select Board.
Needham Public Health Nurse Tiffany Zike told the Board on Aug. 18 that a number of coronavirus cases reported in July were considered false cases that were revoked due to the lab having an issue.
A $25,000 wire transfer
In early May, nursing homes across Massachusetts were looking for a miracle.
The Massachusetts DPH had ordered long-term care facilities coping with severe coronavirus outbreaks to test 90% of residents and staff for COVID-19 by May 25 in order to qualify for a portion of the $130 million in relief funding offered by the state.
Many nursing homes struggled to meet the deadline because of a shortage of COVID-19 tests. The National Guard was testing nursing home residents and staff on behalf of the state, but demand was high.
When Ron Doty got a memo from the Massachusetts Senior Care Association on May 6 offering Orig3n as a turnkey mobile testing option, he immediately reached out to the company.
Doty, administrator at Marlborough Hills Rehabilitation & Health Care Center in Marlborough, wired $25,000 to Orig3n. The next day, he received 250 COVID-19 test kits from the company.
Two months later, Orig3n was asked to suspend COVID-19 testing in Massachusetts, which it did on Aug. 8. Staff at the Massachusetts DPH noticed the lab was reporting an unusually high rate of positive tests, prompting the agency to investigate, according to a DPH spokesperson.
The state DPH declined to identify which nursing homes used Orig3ns testing services, citing the ongoing investigation.
Tony Plohoros, Orig3ns spokesman, said the lab is now working with state health officials to correct problems in its Boston lab, which has ceased processing coronavirus samples but continues to process consumer genetic profiles.
While it remains unclear if the federal government has taken action to halt use of Orig3ns COVID-19 testing services in other parts of the country, as North Carolina did, concerns about Orig3n hadnt yet reached a health care supply company in Ohio as of this week. That company, Link-age Solutions, is still working with Orig3n to provide coronavirus tests to long-term care facilities nationwide.
Patrick Schwartz, a spokesman for Link-age Solutions, said Thursday the company was unaware Orig3n was asked to cease coronavirus testing in Massachusetts.
One of the highest accuracy ratings in the market
Orig3n received an emergency authorization to conduct COVID-19 testing from the Food & Drug Administration in April.
The same month, the company received a federal Paycheck Protection Program loan valued between $350,000 and $1 million from Silicon Valley Bank, according to U.S. Treasury data.
Since getting the FDA approval, Orig3n has provided testing services to The New England Power Generators Association, Bostons homeless population, a boarding school in Virginia, and other public and private entities.
In late June, Link-age Solutions, a Mason, Ohio-based company that helps long-term care facilities nationwide obtain supplies ranging from pharmaceuticals to office supplies issued a press release touting Orig3ns breakthrough testing method as having one of the highest accuracy ratings in the market.
In partnering with Orig3n, Link-age could offer in-demand coronavirus tests to its members at a reduced cost, according to the press release. Results would be returned less than 36 hours after specimens arrived at the lab, the release said.
The lab boasts output capabilities of 6,000 and up to 12,000 tests per day, and will offer billing to Medicare where appropriate, the press release stated. Reporters questions to the Centers for Medicare & Medicaid Services have gone unanswered.
Schwartz, the Link-age spokeman, said Thursday his company continues to offer COVID-19 testing services performed by Orig3n, and that feedback about Orig3ns tests from its customers has been positive.
Company flagged in the past
Orig3n lists its office location as the third floor of 27 Drydock Ave. in the heart of Bostons Seaport. Until August, thats where the company processed its coronavirus tests.
Before it got into the coronavirus business, Orig3n billed itself as a consumer genetics pioneer, carving a path toward a future of wellness and health through the use of diagnostics, genetics and biotechnology.
The company, founded in 2014, offers tests ranging in cost from $29 to $298 that are supposed to help people learn what kinds of food, exercise and beauty products would work best for their genetic profiles, and even whether they are genetically predisposed to so-called superhero traits including intelligence and strength, according to Bloomberg Businessweek.
A former Orig3n employee who spoke to Gannett New England reporters on the condition of anonymity because of a nondisclosure agreement with the company said the number one complaint received by customer service was genetic profile tests not being returned to customers. The employee, who left the company pre-pandemic, didnt think the company could handle both genetic profile testing and coronavirus testing.
Unless things drastically changed since I have left, not even testing, just bandwidth-wise, they were already kind of drowning when I left, the employee said.
Despite its start-up status, Orig3n quickly gained prominence partly through securing big-name partnerships, including one with the NFLs Baltimore Ravens.
In September 2017, the Ravens linked up with Orig3n for an event called DNA Day. Roughly 70,000 Ravens fans were set to pour into the teams stadium, where they could have picked up a free genetic testing kit.
The event never happened. The Ravens postponed it days before federal health officials told The Baltimore Sun they were, working to determine whether any of the testing being offered by Orig3n is subject to the requirements of the Clinical Laboratory Improvement Amendments of 1988.
The federal regulatory standards apply to labs testing human samples in the United States, and are intended to ensure accuracy, effectiveness and reliability.
About a year after DNA Day was scrapped, 17 former Orig3n employees criticized the company in Bloomberg Businessweek, alleging it, habitually cut corners, tampered with or fabricated results, and failed to meet basic scientific standards.
Marketing, not science, the employees said, was the companys priority.
Press releases put out by Orig3n throughout the pandemic show the company was eager to publicize contracts with respected institutions, both public and private.
On May 12, the company announced what it called a comprehensive solution to enable COVID-19 testing for Massachusetts nursing home residents.
In the press release, the company said it sought to become the partner of choice for coordinating and providing COVID-19 testing for defined populations beyond long-term care residents and employees, including private employers, schools, government agencies, and cities and states.
The nursing home program is one of many applications for Orig3ns fully-integrated solution, the press release said.
What went wrong?
Doty, the Marlborough nursing home administrator, would not have known about Orig3n if not for the May 6 memo from Massachusetts Senior Care Association, an organization many nursing homes relied on during the viruss spring surge in the state to interpret complex and shifting guidance from the DPH.
Massachusetts Senior Care Association President Tara Gregorio said in a statement that her organization essentially serves as a messenger for its members, and that it relies on governmental agencies to vet labs like Orig3n.
Throughout the pandemic, MSCA has passed along lists of government approved COVID-19 PCR testing labs options available to our members, Gregorio wrote. We must rely, as all providers do, on the licensing process to ensure legitimacy and accuracy of these labs.
The FDA, which gave Orig3n emergency authorization to conduct coronavirus testing last spring, has not yet responded to Gannett New England reporters seeking comment.
According to a Massachusetts DPH spokesman, Orig3n told the agency after it was contacted by DPH that errors in testing occurred because of a broken vial or contaminated plate during final processing, an explanation DPH investigators are now trying to confirm.
In an email to Gannett New England reporters on Friday, Plohoros, Orig3ns spokesman, said, human error at the beginning of the laboratory testing process caused a pre-extraction reagent that was used in the affected batch tests to become contaminated.
In an Aug. 18 press conference, Massachusetts Secretary of Health and Human Services Marylou Sudders said erroneous results from Orig3n affected the number of COVID-19 cases reported in Fall River and Taunton.
The positive test rates for that three-day period for that one lab just seemed high, and so (we) went back, and the lab stopped processing, theyre still not processing any tests, Sudders said, adding that DPH staff was analyzing tests processed prior to the discovery to make sure the issue was, as Orig3n told the DPH, a one-time problem rather than a more structural issue.
Dr. Michael Mina is an assistant professor of epidemiology at Harvard T. H. Chan School of Public Health who has experience running laboratories that perform PCR testing.
Mina says a lab that processes 6,000 to 12,000 PCR coronavirus tests a day as Orig3n has said it does would need to be run with what he called extreme quality control measures.
It requires an amazing amount of concentration and care to really ensure youre not getting contamination or any number of other problems that can happen, he said. If this was an easy (test), I would have said, sure, any lab can do it but this particular (test) ... it really is a finicky test. You have to be extremely careful about how youre doing it, and that means you need a lot of quality controls. You need to be a really diligent lab.
Mina, who stressed he has no knowledge of Orig3n other than circulating allegations that the company had previously been investigated, said when a mistake like the kind Orig3n described occurs, staff should immediately stop processing, sterilize the area and alert any affected patients and health departments.
The fact that the Massachusetts DPH noticed the problem and not Orig3n is a problem, Mina said.
That shows in general that the quality control wasnt being maintained, he said, adding that performing intense quality control checks multiple times daily is a core tenet of running any lab, especially a high-complexity clinical lab. And if were giving them the benefit of the doubt, they didnt know that there was a problem because otherwise its just nefarious.
Mina said that a professionally run lab would likely have caught the mistake, and alerted the state DPH immediately.
Part of the reason for that is simply a motive to care for the patient, who will likely make important decisions about their own behavior based on the test result they receive, which in turn affect other people.
At Brigham, for example, where I was one of the medical directors, of course people feel embarrassed (about making a mistake), but theres this strong culture where people recognize that their embarrassment is not worth a patients hardship, Mina said. Thats one thing that really, I think, lacks a little bit when we move into industry laboratories running clinical tests. That same spirit of honesty ... might not exist everywhere.
While mistakes at labs are common, Mina said, theyre also commonly fixed and they dont usually require an investigation.
Mina said that the U.S. did need to increase its capacity to process coronavirus tests this spring, but labs, especially ones new to the medical diagnostics space, as Orig3n is, need to be monitored closely.
Its just important to keep all these things in check, Mina said. The frenzy to do coronavirus testing has been so extreme. I dont think labs should be immediately shut down for mistakes, but we have to remain vigilant to ensure that all the testing that is being done is up to the highest standards.
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Genetics start-up continues COVID-19 testing as DPH probes testing errors, including some in Fall River, Taunton - Fall River Herald News
Frozen reproductive cells hatched by surrogate hens will lead to the formation of a chicken biobank for breeds of chickens used in research. Scientists are looking to develop a new technology to limit the number of chickens required for research by freezing reproductive cells and using sterile surrogates to hatch the required breeds.
The method, say scientists, will enable genetic diversity which helps limit risk of poor health to be maintained in those chickens created from frozen material. A team from the Roslin Institute, Scotland, will aim to transfer frozen reproductive stem cells from many individuals of one chicken breed into eggs from sterile surrogate chickens of a different breed. The hatched offspring from the injected eggs that results will look like the sterile line, but will lay eggs of the transferred breed and retain genetic diversity.
A biobank of breeds used in research would help to reduce the number of research chickens, currently bred in large numbers across the world, needed to maintain a genetically diverse population and prevent problems with inbreeding.
Text continues underneath image
A team from the Roslin Institute, Scotland, will aim to transfer frozen reproductive stem cells from many individuals of one chicken breed into eggs from sterile surrogate chickens of a different breed. - Photo: Mark Pasveer
Dr Mike McGrew, of the Roslin Institute, said: Discovering a way to easily freeze avian reproductive cells and subsequently bring back a genetically diverse flock will help the preservation of endangered breeds of poultry, increase food security from disease outbreaks and reduce numbers of animals used in research.
Scientists will optimise how to freeze reproductive cells by studying three breeds of chickens used in research. The team will then aim to show that a surrogate parent can lay eggs that come from many individual donor birds.
This result will determine the ability to capture the genetic diversity of a chicken flock. This will validate the development of biobanks for flocks of poultry for research purposes, which will limit the number of animals bred for use in this way. The method could also be used to preserve rare chicken breeds.
The adult surrogate birds will have only their reproductive cells changes to the genetics of the transferred cells, and therefore will be largely unaffected, with the exception that their offspring will be a different breed of chicken.
Their projects requires new insights into avian reproduction, which differs considerably from mammalian specie. Researchers hope to recreate the practices applied in other research species, where reproductive materials are frozen to secure future availability while reducing the numbers of animals used in research, as well as preserving the genetics of the species.
Such an approach can also avoid the random genetic changes that can occur naturally between generations of animals bred for research, which can lead to unhealthy animals.
The study, which is supported with funding from the UK Governments Foreign and Commonwealth Office, the Centre for Tropical Livestock Genetics and Health and the National Centre for the Replacement Refinement and Reduction of Animals in Research.
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Chicken Biobank to cut numbers of birds for research - Poultry World
The founding population of the New Guinea singing dog, a small-to-medium-sized canid thought to be extinct in the wild since the 1970s, is not, in fact, extinct, according to an analysis of the nuclear genomes from a dog population discovered during a recent expedition to the New Guinea highlands.
Lady Foot, a Highland wild dog native to New Guinea. Image credit: New Guinea Highland Wild Dog Foundation.
The New Guinea singing dog was first described in 1897, and became known for its unique and characteristic vocalization, described as a wolf howl with overtones of whale song.
Originally classified as a distinct species, Canis hallstromi, its taxonomy remains controversial in part due to the availability of only captive specimens for genetic analysis and debate regarding their origin.
Though genetically similar to the Australian dingo, it represents a distinct population, as evidenced by both morphology and behavior.
Only 200-300 captive singing dogs exist in conservation centers, with none seen in the wild since the 1970s.
The New Guinea singing dog that we know of today is a breed that was basically created by people, said senior author Dr. Elaine Ostrander, a researcher in the National Human Genome Research Institute, part of the National Institutes of Health.
Eight were brought to the United States from the Highlands of New Guinea and bred with each other to create this group.
Two of three Highland wild dog puppies previously spotted via a trail camera. Image credit: New Guinea Highland Wild Dog Foundation.
Another New Guinea dog breed found in the wild, called the Highland wild dog, has a strikingly similar physical appearance to the New Guinea singing dogs.
Considered to be the rarest and most ancient dog-like animal in existence, it is even older than the New Guinea singing dogs.
In 2016, an expedition led by the New Guinea Highland Wild Dog Foundation in collaboration with the University of Papua reported the existence of 15 wild dogs on the western side of the island near the open-cut Grasberg Mine, the largest gold mine in the world.
A subsequent 2018 field study led to the collection of blood samples from three individuals in their natural environment, as well as demographic, morphologic, and behavioral data.
Initially we were searching for a dog that didnt want to be found, said James Mac McIntyre, a zoologist and the director of field research at the New Guinea Highland Wild Dog Foundation.
The Highland wild dogs are shy and reclusive. They reside in the rough rocky terrain above the tree line. We spent long days in thin air and often cold rainy conditions.
The wild dogs nuclear genome confirmed that the Highland wild dogs are the original New Guinea singing dogs.
Detailed DNA testing confirmed that the Highland wild dog is a direct ancestor of the New Guinea singing dog, said co-author Dr. Kylie Cairns, a conservation biologist in the Centre for Ecosystem Science at the University of New South Wales.
Both canids are close genetic relatives to the Australian dingo forming their own lineage unlike any other in the world.
We found that New Guinea singing dogs and the Highland wild dogs have very similar genome sequences, much closer to each other than to any other canid known, said co-author Dr. Heidi Parker, a staff scientist in the National Human Genome Research Institute.
In the tree of life, this makes them much more related to each other than modern breeds such as German shepherd or bassett hound.
The evidence of wild populations is welcome news to conservationists, who hope to diversify the gene pool of the captive population.
Many had feared the population was extinct, or heavily mixed with domestic dogs, Dr. Cairns said.
Now that we know there is a wild population, programs can help diversify and conserve the captive population.
The results were published in the Proceedings of the National Academy of Sciences.
_____
Suriani Surbakti et al. New Guinea highland wild dogs are the original New Guinea singing dogs. PNAS, published online August 31, 2020; doi: 10.1073/pnas.2007242117
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Original New Guinea Singing Dogs Still Exist in the Wild, Study Shows | Biology, Genetics - Sci-News.com
Viking Genetics Australia has achieved three of the top five positions for daughter-proven sires on BPI for the August run.
Reds
VIKRTOKYO cemented his number one position with a strong BPI of 291 with 75 Australian daughters on top of his 2656 international daughters.
Tokyo has exceptional production, positive fertility and a conformation ABV that any breed would be proud to own according to Viking Genetics.
VikRFaabeli and VikRFroerup are the other two shining stars in the top five line up.
Faabeli has close to 2000 international daughters in his proof.
He will breed a smaller robust cow with nice udders and good production, perfect for intensive grazing systems according to Viking Genetics.
Froerup is a new sire with one of the highest NTM (Nordic Total Merit) proofs ever achieved as a proven sire.
Holsteins
Viking Australia said there were several sires to keep an eye on coming through the ABV system, one being VIKHSPARKY.
Sparky is the highest ranked daughter fertility sire (117) with milking daughters that is A2A2.
He has more than 4000 international daughters in his proof.
Viking Genetics said Sparkys udders and teat length were a feature, but what you could not see on his Australian proof was his amazing daughter resistance to the biggest foot issues in Australia, white line separation and sole haemorrhage.
Watch VIkHRomello and VikHBooth as well, because they have increasing proofs here on top of their Viking proofs.
Milking daughters in Australia are proving popular with Booth transmitting high milk yields to nice medium-size heifers with lovely udders and temperament.
Romello daughters are stylish with strong front ends, lovely udders, excellent daughter fertility and good lactation persistency (NTM proofs).
Jerseys
VikJQuintana is emerging through the BPI system as his daughters are coming into production in Australia.
Reports of high classifying daughters with nice stature and chest, udder depth and teat length are becoming common place.
It is early days with 27 daughters in 10 herds here in Australia on top of his 1065 daughters in Denmark, but just these few have almost doubled his BPI score from the April run.
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Viking achieves three of top five - Riverine Herald
Latest Research Report: Human Genetics industry
This has brought along several changes in This report also covers the impact of COVID-19 on the global market.
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Human Genetics Market competition by top manufacturers as follow: QIAGEN, Illumina, Agilent Technologies, GE, Thermo Fisher Scientific, LabCorp, Promega
The risingtechnology in Human Geneticsmarketis also depicted in thisresearchreport. Factors that are boosting the growth of the market, and giving a positive push to thrive in the global market is explained in detail. It includes a meticulous analysis of market trends, market shares and revenue growth patterns and the volume and value of the market. It is also based on a meticulously structured methodology. These methods help to analyze markets on the basis of thorough research and analysis.
The Type Coverage in the Market are:
CytogeneticsPrenatal GeneticsMolecular GeneticsSymptom Genetics
Market Segment by Applications, covers:
Research CenterHospitalForensic Laboratories
The research report summarizes companies from different industries. This Human Genetics Market report has been combined with a variety of market segments such as applications, end users and sales. Focus on existing market analysis and future innovation to provide better insight into your business. This study includes sophisticated technology for the market and diverse perspectives of various industry professionals.
Human Genetics is the arena of accounting worried with the summary, analysis and reporting of financial dealings pertaining to a business. This includes the training of financial statements available for public ingesting. The service involves brief, studying, checking and reporting of the financial contacts to tax collection activities and objects. It also involves checking and making financial declarations, scheming accounting systems, emerging finances and accounting advisory.
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Market segment by Regions/Countries, this report coversNorth AmericaEuropeChinaRest of Asia PacificCentral & South AmericaMiddle East & Africa
Report Highlights: Detailed overview of parent market Changing market dynamics in the industry In-depth market segmentation Historical, current and projected market size in terms of volume and value Recent industry trends and developments Competitive landscape Strategies of key players and products offered Potential and niche segments, geographical regions exhibiting promising growth A neutral perspective on market performance Must-have information for market players to sustain and enhance their market footprint
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According to Latest Report on Human Genetics Market to Grow with an Impressive CAGR - Owned
BUFFALO, N.Y. A sensitive and reliable new protocol for assessing social deficits in animal models of autism and certain psychiatric conditions is expediting the search for effective treatments. Developed by University at Buffalo researchers, the new protocol is described in a paper published today in Nature Protocols.
The protocol we developed is facilitating studies on social behaviors and mental disorders related to social impairment, said Zhen Yan, PhD, SUNY Distinguished Professor in the Department of Physiology and Biophysics in the Jacobs School of Medicine and Biomedical Sciences at UB and senior author on the paper.
She noted that a clinical trial for an autism treatment now underway by Oryzon, the European biopharmaceutical company, is, in part, based on preclinical studies conducted at UB with the protocol. That trial is focused on a form of autism called Phelan-McDermid Syndrome, which results from a single genetic deficiency in a gene called Shank3. The UB researchers have significantly contributed to the understanding of how that genetic mutation causes the social deficits.
Determining the effectiveness of a potential treatment for brain disorders cannot be done the way it is for many other diseases: by checking a biomarker in the blood or measuring tumor size and spread. The only way to determine how effective potential therapies for autism might be is to observe behavioral changes in preclinical models.
No biomarkers
We dont have a biomarker for autism, said Yan. Social deficits are the core symptom.
Thats why a sensitive and reliable protocol for measuring social deficits is so crucial to finding new autism treatments.
To find out whether a therapeutic strategy works or not, outcome measurements rely on behavior, Yan said. So a social preference protocol is a critical ingredient in determining the effectiveness of potential therapies in brain diseases like autism and certain mental disorders.
Social preference protocols for autism and similar conditions are based on the fact that normal animals will spend much more time interacting with a so-called social object, meaning another animal, than they will with a non-social, inanimate object, such as a block of wood.
In a mouse model of autism, this social preference will be significantly diminished, Yan said.
Assessing behavior changes
But assessing behavior changes in mouse models of autism isnt easy. A widely-used method for social preference has been a simple three-chamber assay, in which the test mouse is first habituated to an empty three-chamber apparatus. Then, one empty cup is placed in one side chamber, and another cup containing a mouse is placed in the other side chamber, and the amount of time spent interacting with either stimulus is recorded.
That type of test had an intrinsic bias, Yan explained. The social stimulus, which contains both a novel social stimulus (mouse) and a novel non-social stimulus (cup), is more salient than the non-social stimulus (cup alone), which may mask the presence of social preference deficits in autism models.
Similar protocols have produced inconsistent results, Yan said.
The protocol developed at UB is different for several reasons. The test mouse is first habituated to a three-chamber apparatus containing two empty cups in side chambers. The animal then is introduced to two identical inanimate objects (e.g. paper balls) placed within the cups. In the test phase, a social stimulus (mouse) is introduced under one cup and a novel non-social stimulus (e.g. wooden block) is placed under the other cup. The preference between social and non-social stimuli under conditions of equal salience is assessed.
Tests by Yan and her colleagues have demonstrated that this protocol successfully detects social preference deficits in several autism mouse models, and outperforms the widely-used method that differs in animal habituation and testing.
You need a measurement of the phenotype that is both sensitive and robust, and this protocol is both, said Yan.
Repeated measurements of social preference behavior using this protocol also enable longitudinal studies of therapeutic efficacy in autism models, as demonstrated by several publications from the Yan group.
Co-authors with Yan are Benjamin Rein, a doctoral candidate in neuroscience, and Kaijie Ma, research scientist, both in the Department of Physiology and Biophysics in the Jacobs School. The work was funded by the National Institutes of Health and the Nancy Lurie Marks Family Foundation.
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Powerful drug discovery protocol for autism is accelerating the development of new treatments - UB News Center
Track your period andtrain smarter. That was the promise of FitrWoman, an app I downloaded on my phone last fall. Id decided to try it out because my fitness level seemed to drop off precipitously last year. Even though I was healthy and there were no major changes in my training, my endurance tanked. My joints and muscles were unrelentingly tight and brittle. My body didnt seem to recoverever. Id have one or two good weeks followed by a lackluster one where I could barely rally to run more than three miles and do some physical therapy exercises. The cycle repeated over and over.
All year, I tried every trick in the book to get back on track, but blindly following the advice of the latest fitness articles and sports research papers felt like a crapshoot (and not a very smart strategy). I was desperate for some concrete guidance. When nothing else seemed to help, I wondered if I should pay more attention to my hormones and menstrual cycle. Honestly, even though Ive written about the myriad ways that womens cycles can impact health and performance, I dont regularly think about it in the context of my own life. I dont compete at a high level, and I wasnt training for a goal race. I like to run, swim, practice yoga, and play outside as much as possible, and I wasnt sure my period really mattered. But Im in my early forties, and recentlymy period started acting finicky when it used to run like clockwork.
To the extent that I did think about my period, I considered it a liability when it came to sportsa nuisance at best, and a barrier to peak race-day results at worst. And Im not alone. A 2016 study in the journal PLOS Onefound that 55.4 percent of female athletes felt thattheir monthly cycle impacted their training or performance. However, menstruation is usually a taboo and embarrassing topic to discuss with friends, coaches, and teammatesso most women are left with few strategies to mitigate the effects of their cycle on their workouts except to grin and bear it. In fact, according to a 2019 analysis of responses from over 14,000 female Strava users, 72 percent said they have received no education about exercise and their periods.
Yetaccording to experts, understanding how women experience the menstrual cycle is fundamental to sports and performance. Womens physiology changes dramatically across the whole cycle, says Emma Ross, the former head of physiology for the English Institute of Sport, which supports British Olympic and Paralympic athletes. Hormones like estrogen and progesterone ebb and flow throughout the month, influencing everything from how women respond to training, metabolize nutrients, and regulate body temperature and hydration levels. In other words, my fueling needs and ability to recover from workouts may change depending on whether Im in a low-hormone phase or a high-hormone phase.
In an attempt to get to the bottom of why my fitness was stuck in the doldrums, I tracked my period for two months using two apps: Clue and FitrWoman.
According to experts, understanding how women experience the menstrual cycle is fundamental to sports and performance.
Lets back up for a minute. You may remember from biology class that there are two phases of the menstrual cycle. The first phase is the follicular phase, which kicks off when a woman starts her period: the body prepares to release an egg from an ovary and begins to rebuild the uterine lining. Generally, hormones are low during this period but start to rise. Ovulation occurs mid-cycle, when the egg is released. This marks the end of the follicular phase and the beginning of the luteal phase, when hormone levels are generally high and the body prepares to either accept a fertilized egg and support a pregnancy, or the body gets ready to shed the uterine lining.
In the past few years, researchers have begun to dig deeper into sex differences in sports science, with a particular focus on the impact of the menstrual cycle. There is mounting anecdotal evidencethat when you adjust training protocols to the specifics of female physiology, athletes perform better. The biggest endorsement for period tracking came last summer, when it was revealed that the U.S. Womens National Soccer Teamwho won ahistoric fourth World Cup lastJulytracked their cycles leading up toand during the tournament. The team implemented training, nutrition, recovery, and sleep strategies based on where each player was in their cycle. Chelsea F.C. Women (a womens soccer club based in England), the Brisbane Lions Womens team (an Australian Football League womens team), and others have also followed suit.
While recognizing monthly fluctuations can be useful, period tracking isnt a silver bullet. There isnt enough high-quality research to create evidence-based guidelines, especially given womens highly variable experiences with their period. In a Twitter thread, Kirsty Elliot-Sale, an associate professor at Nottingham Trent University and a researcher on female physiology, cautioned: We, the scientific community, have not yet reached a consensus on the direction or magnitude of changes that occur during the menstrual cycle and as such it is impossible for us to guide womens sport on this basis. (In July of this year, Elliott-Sale and her colleagues published a meta-analysis of the research on the menstrual cycle and exercise performance in the journal Sports Medicine, and called for further investigation because of the inconclusive results.)
However, menstrual cycle tracking can be an opportunity to empower women to appreciate their own physiology, says Dr. Ellen Casey, associate attending physiatristin the Womens Sports Medicine Center at the Hospital for Special Surgery in New York City. If its really true that risk of injury and performance fluctuates across the menstrual cycle, we can either say, That sucks, and not deal with it, or we can say, This is fascinating. Are there things we can learn from this? Can we harness these changes and train in certain ways at certain times?
In the past, most women have relied on pen and paper to keep tabs on their periods, if they did at all. Todaythere is no shortage of apps to help women understand their bodies better. Its all part of the booming femtech market, broadly defined as products, apps, and digital services centered around womens health and well-being. The category is projectedto be worth $50 billion by 2025, according to Frost andSullivan, a marketing consulting firm.
While most period-tracking apps are geared towardovulation and fertility, a growing numberlike Clue and Floallow women to log exercise and energy levels as well as more traditional symptoms like cramps and cravings. Garmin and Fitbit also offer period-tracking functions, so women can make notes on their cycle alongside their runs, bikes, and swims. MyFlo suggests different physical activities that may be more suited to the current phase of your cycle.The app then sorts through your data and looks for patterns and trends.
FitrWoman, which is targeted specifically to active women, takes things a step further: in addition to menstrual cycle and activity tracking, it provides educational snippets on whats happening in your bodybased on your current menstrual cycle phase, and offers strategies to mitigate those effects. On the home screen, you can swipe through a few slides and read how hormonal fluctuations may affect your physiology, training, and nutrition. Theres a link to recipes, too, which are tailored to support training and recovery for the phase youre in.
Each day, I opened the apps, clicked on the calendar (the main hub in both apps), and reported any symptomsI experienced that day. In FitrWoman, I scrolled a single page and chose from 20 different symptoms.
Clue, on the other hand, groups symptoms into nine categories (bleeding, pain, emotions, sleep, energy, cravings, digestion, mental, and exercise). Each category has four options: like cramps, headache, ovulation, and tender breastsfor pain; or happy, sensitive, sad, or PMSfor emotions. Just swipe and tap to log the relevant symptoms. I also have the option to create custom tags. Each month, I noted when my period started, its flow, and how long it lasted. The apps then predicted when my next period would start.
At first, chronicling daily symptoms was like starting a brand-new puzzle. I was excited to dig in and figure out what all the pieces would reveal about my physiology. For example, I noticed that I typically feel great in the follicular days between the end of my period and ovulation, when my hormone levels are relatively low. Im happy. I have plenty of energy. And I feel strong during my runs and strength sessions, so I can push myself harder.
On the flip side, during the luteal phaseI tend to feel flat, battle daily headaches, and have less energy and motivation to work out. This makes sense, since estrogen and progesterone levels are high, which can lead to bloating and fatigue. I also want to eat all the sweet and salty foods I can get my hands on during this time. We know that cravings are likely caused by increased insulin resistance in this phase, says Georgie Bruinvels, an exercise physiologist and the creator of FitrWoman. This can make blood-sugar levels more unstable. Instead of criticizing myself for being lazy and giving into my cravings, I was more proactive about fueling throughout the day to keep my blood sugar stable and switched up harder workouts for yoga, swimming, or a rest day during this phase.
Both apps also let women share information with their real-life coach. FitrWoman uses FitrCoach, a separate fee-based platform onwhich coaches can see where an athlete isin her menstrual cycle and which symptoms theyve logged. It also sends a notification if an athlete hasnt logged a period, which may be a sign of amenorrhea, the absence of menstruation. Amenorrhea can have a long-term impact on a womans health and signal the presence of a larger issue like the female athlete triad, or relative energy deficiency in sport (RED-S).
Since many women dont talk openly about their menstrual cycle, this setup can be a way to facilitate these private conversations, says Adam St. Pierre, an ultrarunning coach based in Boulder, Colorado. Previously, athletes would send him a text or email, or leave a note in their training log when they started their period or if they experienced troublesome symptoms. It wasnt super scientific, he says. FitrCoach allows for more tracking, letting me make sure things are going well. The equivalent setup for Clue is called Clue Connect: you can invite others to view your cycle, such as a coach, partner, family member, or friend. The app will show them the dates for your past, current, and predicted periods, fertile windows, and PMS. Other symptoms remain private.
While logging symptoms and collecting data about my cycle was easy, figuring out what it all meant and how I could apply it to my life wasnt so simple. Both apps provide educational information about menstruation and common symptoms, but the information is generic. I had to triangulate between FitrWoman, exercise physiologist and nutrition scientist Stacy Simss book Roar (the go-to training and nutrition guide for female athletes), and my own experience to determine which adjustments I could make and when.
There is currently no easy way to step back and get a macro-level view of my cycle and symptoms alongside my training log in either app. While FitrWoman syncs with Strava, I can only see that information for an individual day, not on a weekly or monthly basis. My basic activity stats (distance, pace, time, calories, elevation gain, etc.) automatically feed into my FitrWoman calendar and appear alongside symptoms Ive logged for that day. The data isnt pushed to my Strava feed. Plus, I normally use TrainingPeaks, not Strava, to track my workouts, and right nowthe app doesnt sync with TrainingPeaks. So I had to manually jump back and forth between all the apps, making it harder to see trends and process the overall picture of my health and performance. Bruinvels says FitrWoman plans to develop a higher-level view of the data over a longer time period and overlay it with training information. It may also move towardpredicting when symptoms are likely to occurbased on previous cycles. (The timeline for these developments isunclear.)
For its part, Clue does begin to analyze your reported data after you complete two cycles. It plots recurrent symptoms across each recorded cycleand predicts when youre likely to experience them based on past cycles. It also presents an overview: the average length of a cycle, the average length of a period, and the typical cycle length variation. Clues cycle analysis starts to get at the macro-level insights I craveand provides the data points to start piecing together the puzzle.
Admittedly, I wanted period tracking to be a fix, and to offer me a prescriptive path back to better fitness and strength. But its never that easy. Im still in the process of parsing out the data and testing different adjustments to get back on track.
Still, the simple act of noticing how I felt each day gave me a framework to interpret the signals my body was sending. Instead of berating myself for a bad run or lack of energy during strength workouts, I can put those workouts into context: Where am I in my cycle? Whats going on with my body that may make me feel this way? Should I expect to feel good today? NowI have a plausible explanation for how I feel, putting a stop to some of the second-guessing going on in my head.
Theres no part of the cycle thats negative, Sim says.Its about gaining awareness of how you are across your cycle and learning to work with that.
If you want to take a peek under the hood and understand your menstrual cycleand how it affects you, here are some tips to get you started.
Whether you use an app, a fitness tracker, or pen and paper, the first step is to commit to tracking your menstrual cycle and determine its length. Not every womans period is a textbook 28 days, Sims says. Cycle length can vary greatly from woman to woman, and even fluctuate from month to month. Even women at the same phase of their cycles can have vastly different experiences and symptoms, so its important to understand the influence of hormones in your own body.
Sims also recommends using an at-home ovulation predictor kit to determine when youre ovulating, especially if your app doesnt provide this information. (Clue does. FitrWoman doesnt.) This will tell you more precisely when youre entering the higher-hormone luteal phase of your cycle.
If youre taking hormonal birth control, its a little more complicated. For IUD users, you still experience natural hormonal fluctuations, even if you dont get a period, and can track your cycle and find your monthly patterns. However, if youre on combined hormonal birth control, you dont experience the same high- and low-hormone phases, since the contraceptive provides stable levels of estrogen and progesterone for three weeks out of every month. You can track, but youre not going to have the same benefit as if you were using your natural cycle, Sims says. While you may identify days when you feel good and bad, the whole concept of employing specific strategies for high-hormone versus low-hormone phases doesnt apply.
Sims recommends tracking your cycle for at least three months. This will begin to give you enough data so that you can start to see trends. If you track for one or two months, what you experience may just be an off day, she says. But if it happens three times, then you know there may be a real pattern. Overlay this information with your training log to spot connections between the menstrual cycle and workouts and races.
While the research isnt quite strong enough yet to make general recommendations, simply increasing your body literacy is beneficial. Ross, the UK-based physiologist, says that when youre in tune with the physical and emotional experience of your cycle, you may be more confident in planning your training, nutrition, and recovery, which can eliminate a lot of anxiety.
Once you notice patterns, begin to dial in your training and nutrition. It doesnt have to be prescriptive like, Im in a low-hormone phase so Im going to do high-intensity training this day, this day, and this day, Sims says. Instead, use those patterns as signals for when to ramp up activities or take things down a notch.
For example, during the high-hormone phase when women are likely to feel flat physiologically, its not the best time to work hard. Instead, focus on technique like running drills. With drills, you get the neuromuscular stimulus when the body is tired. Then, when you do the same drills when hormones are more optimal, youll perform that much better, says Sims.
While listen to your body feels like clich advice, its still a good mantra. Every womans experience is different across her cycle, and theres no one-size-fits-all template. Pay attention to whats happening and make reasonable adjustments based on your personal experience.
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Everything You Need to Know About Period Tracking - Outside
Last nights confirmation that Tony Abbott is joining the Board of Trade has been reported, bizarrely, with accusations that he is somehow misogynist or homophobic. There was little mention of why the British government actually headhunted him: his ability to achieve big free trade deals quickly. In his two years in office, he did more to help Australias exporters than any other leader in the countrys history, finalising free trade deals with what are (now) Australias three most important markets: Japan, China and Korea. He also initiated talks on a trade deal with the EU after his Labor predecessors lazily ignored the opportunity for years.
But as this is not very well known in Britain, its easier for critics to ignore it all and recycle these ridiculous claims. Who is there to come to his defence, given that no one really knows him in Britain? Who can give a different picture: about the nature of the man, or his qualification for the job? I was his international adviser for four years and I can tell you the British government has just recruited an eminently-qualified trade adviser. I can also tell you how little foundation there is behind those smears.
The claim that he is in some way a misogynist was most famously made by Australian Labor prime minister Julia Gillard in 2012 while Abbott was leader of the opposition. She dug up a partial quote from 1998 where he questioned why women were under-represented in positions of power. In debate, he had raised whether men are by physiology or temperament more likely to take jobs of authority.
The source? From 1998 when Abbott was at a round table that included Michael Costa, then a minister in New South Wales he wasnt making a statement but asking a question in a wide-ranging discussion.
Abbott: If its true that men have more power, generally speaking, than women, is that a bad thing?
Costa: Clearly its a bad thing.
Abbott: Why is that, Michael?
Costa: I want my daughter to have as much opportunity as my son.
Abbott: Yeah, I completely agree, but what if men are by physiology or temperament more adapted to exercise authority or to issue commands?
Costa: Well see, I dont believe that. What I do think is that we should never be in a situation where women have got to define their notions of success and self-worth by negating a traditional role. But in terms of the power structure I think its very hard to deny that there is an under-representation of women.
He was testing the fairly-common idea that men tend to chase top jobs a pretty far cry from declaring that men are best-suited for the top jobs.
Gillard also attacked him for comments he made once on a visit to the town of Queanbeyan outside Canberra, warning of higher electricity prices under her governments emissions trading scheme and trying to express that in household consumption terms. What the housewives of Australia need to understand as they do the ironing is that if they get it done commercially it's going to go up in price, and their own power bills when they switch the iron on, are going to go up, he said. Perhaps this underestimated the role of men of Queanbeyan who doubtless do a lot of ironing. But does it expose the black heart of a sexist?
Gillards characterisation of Abbotts views of womens roles was obviously dishonest. In fact the womens rights issue he was criticised for most at the time was his championing of a plan to improve the rights of working women by introducing what would have been one of the worlds most generous paid parental schemes, providing six months of leave on full wages for one parent in all couples (including those of the same sex). Gillard opposed the scheme and it was later shelved for reasons of cost.
Her charge that Abbott was somehow opposed to power being given to women is undermined by the fact that one of the major elements contributing to his losing the prime ministership was the widespread view that he had given his female chief of staff Peta Credlin too much power. Despite mounting calls for him to sack her, including from Rupert Murdoch, he remained staunchly loyal.
Gillard also liked to quote something he said speaking at Adelaide University in 2004 on the ethical role of a Christian politician. How to understand the high number of abortions, he said? Well, you can consider some of the personal circumstances. To a pregnant 14-year-old struggling to grasp whats happening, for example, a senior student with a whole life mapped out or a mother already failing to cope under difficult circumstances, abortion is the easy way out. Its hardly surprising that people should choose the most convenient exit from awkward situations. What seems to be considered far less often is avoiding situations where difficult choices might arise. So he was advocating alternatives to unwanted pregnancy in the first place. But this sentence in this speech has been truncated by his critics to six words: abortion is the easy way out.
Abbott gets on well with Boris Johnson, and shares with the British prime ministers refusal to be strait-jacketed by politically-correct language rules. Ten years ago, for example, when enumerating the qualities of one of his partys female candidates, he included sex appeal among them. This may have made him seem old-fashioned, but the woman in question found it amusing and the comment could hardly be construed as misogyny.
Abbott has also been accused of being a homophobe for two television interviews in 2010 when he was being frank about his own feelings. He said he had once felt a bit threatened, as most people do by homosexuality because there is no doubt that it challenges, if you like, orthodox notions of the right order of things. Again, there can be little doubt that these views were influenced by his Catholicism were talking about a man who once trained to be a priest. But in the same interview, he said: it's a fact of life and we have to treat people as we find them. If you bought the Emily Thornberry or Kay Burley view of Abbott, youd also be surprised to learn that when one of his longtime friends transitioned from male to female, she asked Abbott to introduce a documentary about her story. He gladly did so.
In 2017 Abbott became the de facto leader of the opposition case for legalising same-sex marriage ahead of Australias referendum on the issue, arguing that it is not homophobic to maintain that, ideally, children should have both a mother and a father. That was much more gentle than the line of Australian Labor hero, former prime minister Paul Keating, who said that two blokes and a cocker spaniel dont make a family. But as a hero of the left, unlike Abbott, Keatings never been attacked as a bigot over the issue. After Australia voted yes to legalising same sex marriage, Abbott was again pragmatic. When his lesbian sister Christine Forster married the following year, Abbott sat in the front row and commented that it was a great family occasion, that he was very happy for his sister and her spouse and that he was looking forward to having a new sister-in-law. Forster has issued a statement calling the claims of misogyny and homophobia dishonest, describing her brother as an unabashed conservative but with great compassion, respect for others and an indelible sense of doing whats right.
Beyond Abbotts undoubted achievements, all who have had the privilege of working with him know that it would be hard to find a more decent, likeable or good-humoured figure in public life. And one of the qualities his detractors would prefer was ignored is his decades-long commitment to working to improve the life of the first Australians. The left likes to claim concern for the generally disadvantaged Aborigines as its issue. But Abbott, unlike any other senior political figure, over many years has stayed at remote Aboriginal communities on a regular basis including when prime minister to explore ways in which their welfare could be improved. Britain is lucky to have him.
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The truth about Tony Abbott - Spectator.co.uk
If the serrated sharp teeth of a killer shark invaded the dreams of millions of movie buffs across the world 45 years ago when acclaimed director Steven Spielberg released his cult Hollywood film Jaws, the scientifically inaccurate The Meg refreshed those memories in 2018 by telling a story about a 75ft prehistoric shark, the Megalodon. So much for fiction, and now it is time to cut to reality. To date only the length of the legendary giant shark Megalodon had been estimated but, a new study led by the University of Bristol and Swansea University has revealed the size of the rest of its body, including fins as large as an adult human.There is a grim fascination in determining the size of the largest sharks, but this can be difficult for fossil forms where teeth are often all that remain. Today, the most fearsome living shark is the Great White, at over 6m (20ft) long, which bites with a force of two tonnes. Its fossil relative, the big tooth shark Megalodon, lived from 23 to around 3mn years ago, was over twice the length of a Great White and had a bite force of more than 10 tonnes. The fossils of the Megalodon are mostly huge triangular cutting teeth bigger than a human hand.Jack Cooper, who has just completed the MSc in Palaeobiology at the University of Bristols School of Earth Sciences, and colleagues from Bristol and Swansea used a number of mathematical methods to pin down the size and proportions of this monster, by making close comparisons to a diversity of living relatives with ecological and physiological similarities to Megalodon. The project was supervised by shark expert Dr Catalina Pimiento from Swansea University and Professor Mike Benton, a palaeontologist at Bristol. Dr Humberto Ferrn of Bristol also collaborated. Their findings have been published the other day in the journal Scientific Reports.Previously the fossil shark, known formally as Otodus megalodon, was only compared with the Great White. Jack and his colleagues, for the first time, expanded this analysis to include five modern sharks. Dr Pimiento said: Megalodon is not a direct ancestor of the Great White but is equally related to other macropredatory sharks such as the Makos, Salmon shark and Porbeagle shark, as well as the Great White. We pooled detailed measurements of all five to make predictions about Megalodon.Professor Benton added: Before we could do anything, we had to test whether these five modern sharks changed proportions as they grew up. If, for example, they had been like humans, where babies have big heads and short legs, we would have had some difficulties in projecting the adult proportions for such a huge extinct shark. But we were surprised, and relieved, to discover that in fact that the babies of all these modern predatory sharks start out as little adults, and they dont change in proportion as they get larger.As Jack Cooper said, this meant, the researchers could simply take the growth curves of the five modern forms and project the overall shape as they get larger and larger right up to a body length of 16m. The results suggest that a 16m long Otodus megalodon likely had a head round 4.65m long, a dorsal fin about 1.62m tall and a tail around 3.85m high. This means an adult human could stand on the back of this shark and would be about the same height as the dorsal fin.The reconstruction of the size of Megalodon body parts represents a fundamental step towards a better understanding of the physiology of this giant, and the intrinsic factors that may have made it prone to extinction.
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Pinning down the size of big tooth shark Megalodon - Gulf Times