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Seattle Genetics Announces Health Canada Approval of ADCETRIS (Brentuximab Vedotin) in Combination with Chemotherapy in Frontline CD30-Expressing…

BOTHELL, Wash.--(BUSINESS WIRE)--Seattle Genetics, Inc. (Nasdaq:SGEN) today announced that Health Canada has approved the supplemental New Drug Submission that expands the use of ADCETRIS (brentuximab vedotin) in combination with CHP (cyclophosphamide, doxorubicin, prednisone) chemotherapy for the treatment of previously untreated adult patients with systemic anaplastic large cell lymphoma (sALCL), peripheral T-cell lymphoma-not otherwise specified (PTCL-NOS) or angioimmunoblastic T-cell lymphoma (AITL), whose tumours express CD30. The approval is based on positive results of the phase 3 ECHELON-2 clinical trial that compared ADCETRIS plus CHP to CHOP (cyclophosphamide, doxorubicin, vincristine, prednisone). Health Canada granted a Priority Review Designation for this submission. ADCETRIS is an antibody-drug conjugate (ADC) directed to CD30, which is expressed on the surface of several types of PTCL.

The Health Canada approval of ADCETRIS (brentuximab vedotin) in combination with CHP chemotherapy in newly diagnosed CD30-expressing peripheral T-cell lymphoma represents the first major advance for Canadian patients with PTCL in decades, said Kerry Savage, M.D., Medical Oncologist at the BC Cancer Agency, Professor of Medicine at the University of British Columbia and investigator on the ECHELON-2 clinical trial. The approval is based on the ECHELON-2 clinical trial that demonstrated ADCETRIS (brentuximab vedotin) plus CHP regimen was superior for both progression-free survival and all key secondary endpoints, including overall survival, when compared to the standard of care CHOP chemotherapy.

The current standard of care for initial treatment of peripheral T-cell lymphoma is multi-agent chemotherapy, which results in low complete remission rates and poor progression-free and overall survival. ECHELON-2 is the first randomized trial to demonstrate an overall survival benefit over established standard therapy, making it a meaningful advance in the treatment of these rare lymphomas, said Roger Dansey, M.D., Chief Medical Officer at Seattle Genetics. With this new indication for ADCETRIS, physicians and eligible patients in Canada now have access to this important new regimen for treating frontline CD30-expressing peripheral T-cell lymphoma, another milestone supporting our plans to continue to expand ADCETRIS globally to patients in need.

In May 2019, Health Canada approved the supplemental New Drug Submission that expanded the use of ADCETRIS in combination with AVD (Adriamycin, vinblastine and dacarbazine) chemotherapy in patients with previously untreated Stage IV Hodgkin lymphoma (HL) based on the results of the phase 3 ECHELON-1 clinical trial.

About T-Cell Lymphomas

There are more than 60 subtypes of non-Hodgkin lymphomas which are broadly divided into two major groups: B-cell lymphomas, which develop from abnormal B-lymphocytes, and T-cell lymphomas, which develop from abnormal T-lymphocytes. There are many different forms of T-cell lymphomas, some of which are extremely rare. T-cell lymphomas can be aggressive (fast-growing) or indolent (slow-growing). PTCL accounts for approximately 10 percent of non-Hodgkin lymphoma cases in the U.S. and Europe and may be as high as 24 percent in parts of Asia.

About ADCETRIS

ADCETRIS is being evaluated broadly in more than 70 clinical trials in CD30-expressing lymphomas. These include three completed phase 3 trials: ECHELON-2 trial in frontline peripheral T-cell lymphomas, ECHELON-1 in previously untreated Hodgkin lymphoma, and ALCANZA in cutaneous T-cell lymphoma.

ADCETRIS is an ADC comprising an anti-CD30 monoclonal antibody attached by a protease-cleavable linker to a microtubule disrupting agent, monomethyl auristatin E (MMAE), utilizing Seattle Genetics proprietary technology. The ADC employs a linker system that is designed to be stable in the bloodstream but to release MMAE upon internalization into CD30-expressing tumor cells.

ADCETRIS injection for intravenous infusion has received FDA approval for six indications in adult patients with: (1) previously untreated systemic anaplastic large cell lymphoma (sALCL) or other CD30-expressing peripheral T-cell lymphomas (PTCL), including angioimmunoblastic T-cell lymphoma and PTCL not otherwise specified, in combination with cyclophosphamide, doxorubicin, and prednisone, (2) previously untreated Stage III or IV classical Hodgkin lymphoma (cHL), in combination with doxorubicin, vinblastine, and dacarbazine, (3) cHL at high risk of relapse or progression as post-autologous hematopoietic stem cell transplantation (auto-HSCT) consolidation, (4) cHL after failure of auto-HSCT or failure of at least two prior multi-agent chemotherapy regimens in patients who are not auto-HSCT candidates, (5) sALCL after failure of at least one prior multi-agent chemotherapy regimen, and (6) primary cutaneous anaplastic large cell lymphoma (pcALCL) or CD30-expressing mycosis fungoides (MF) who have received prior systemic therapy.

Health Canada granted ADCETRIS approval with conditions in 2013 for patients with (1) HL after failure of autologous stem cell transplant (ASCT) or after failure of at least two multi-agent chemotherapy regimens in patients who are not ASCT candidates and (2) sALCL after failure of at least one multi-agent chemotherapy regimen. Non-conditional approval was granted for (3) post-ASCT consolidation treatment of patients with HL at increased risk of relapse or progression in 2017, (4) adult patients with pcALCL or CD30-expressing MF who have received prior systemic therapy in 2018, (5) for previously untreated patients with Stage IV HL in combination with doxorubicin, vinblastine, and dacarbazine in 2019, and (6) for previously untreated adult patients with sALCL, peripheral T-cell lymphoma-not otherwise specified (PTCL-NOS) or angioimmunoblastic T-cell lymphoma (AITL), whose tumors express CD30, in combination with cyclophosphamide, doxorubicin, prednisone in 2019.

ADCETRIS received conditional marketing authorization from the European Commission in October 2012. The approved indications in Europe are: (1) for the treatment of adult patients with relapsed or refractory CD30-positive Hodgkin lymphoma following ASCT, or following at least two prior therapies when ASCT or multi-agent chemotherapy is not a treatment option, (2) for the treatment of adult patients with relapsed or refractory sALCL, (3) for the treatment of adult patients with CD30-positive Hodgkin lymphoma at increased risk of relapse or progression following ASCT, (4) for the treatment of adult patients with CD30-positive cutaneous T-cell lymphoma (CTCL) after at least one prior systemic therapy and (5) for the treatment of adult patients with previously untreated CD30-positive Stage IV Hodgkin lymphoma in combination with AVD (Adriamycin, vinblastine and dacarbazine).

ADCETRIS has received marketing authorization by regulatory authorities in 73 countries for relapsed or refractory Hodgkin lymphoma and sALCL. See select important safety information, including Boxed Warning, below.

Seattle Genetics and Takeda are jointly developing ADCETRIS. Under the terms of the collaboration agreement, Seattle Genetics has U.S. and Canadian commercialization rights and Takeda has rights to commercialize ADCETRIS in the rest of the world. Seattle Genetics and Takeda are funding joint development costs for ADCETRIS on a 50:50 basis, except in Japan where Takeda is solely responsible for development costs.

About Seattle Genetics

Seattle Genetics, Inc. is an emerging multi-product, global biotechnology company that develops and commercializes transformative therapies targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) utilizes the companys industry-leading antibody-drug conjugate (ADC) technology and is currently approved for the treatment of multiple CD30-expressing lymphomas. Beyond ADCETRIS, the company has a late-stage pipeline including enfortumab vedotin for metastatic urothelial cancer, currently being reviewed for approval by the FDA, and tisotumab vedotin in clinical trials for metastatic cervical cancer, which utilize our proprietary ADC technology. In addition, tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer and in clinical development for metastatic colorectal cancer. We are also leveraging our expertise in empowered antibodies to build a portfolio of proprietary immuno-oncology agents in clinical trials targeting hematologic malignancies and solid tumors. The company is headquartered in Bothell, Washington, and has a European office in Switzerland. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter.

ADCETRIS (brentuximab vedotin) U.S. Important Safety Information

BOXED WARNINGPROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY (PML): JC virus infection resulting in PML and death can occur in ADCETRIS-treated patients.

Contraindication

ADCETRIS concomitant with bleomycin due to pulmonary toxicity (e.g., interstitial infiltration and/or inflammation).

Warnings and Precautions

Most Common (20% in any study) Adverse Reactions: Peripheral neuropathy, fatigue, nausea, diarrhea, neutropenia, upper respiratory tract infection, pyrexia, constipation, vomiting, alopecia, decreased weight, abdominal pain, anemia, stomatitis, lymphopenia and mucositis.

Drug Interactions

Concomitant use of strong CYP3A4 inhibitors or inducers has the potential to affect the exposure to monomethyl auristatin E (MMAE).

Use in Specific Populations

Moderate or severe hepatic impairment or severe renal impairment: MMAE exposure and adverse reactions are increased. Avoid use.

Advise males with female sexual partners of reproductive potential to use effective contraception during ADCETRIS treatment and for at least 6 months after the final dose of ADCETRIS.

Advise patients to report pregnancy immediately and avoid breastfeeding while receiving ADCETRIS.

Please see the full Prescribing Information, including BOXED WARNING, for ADCETRIS here.

Forward-Looking Statements

Certain of the statements made in this press release are forward looking, such as those, among others, relating to the potential utilization of ADCETRIS (brentuximab vedotin) for previously untreated adult patients with systemic anaplastic large cell lymphoma, peripheral T-cell lymphoma-not otherwise specified or angioimmunoblastic T-cell lymphoma, whose tumours express CD30 in Canada and the therapeutic potential of ADCETRIS in this indication. Actual results or developments may differ materially from those projected or implied in these forward-looking statements due to factors such as utilization and adoption of the approved treatment regimen by prescribing physicians, competitive conditions including the availability of alternative treatment regimens, the availability and extent of reimbursement, the risk of adverse events, and adverse regulatory action. More information about the risks and uncertainties faced by Seattle Genetics is contained under the caption Risk Factors included in the companys Quarterly Report on Form 10-Q for the quarter ended September 30, 2019 filed with the Securities and Exchange Commission. Seattle Genetics disclaims any intention or obligation to update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

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Seattle Genetics Announces Health Canada Approval of ADCETRIS (Brentuximab Vedotin) in Combination with Chemotherapy in Frontline CD30-Expressing...

Drug combination mutes sensitivity to noise in autism mice – Spectrum

Sound sensitivity: Many autistic people have trouble tuning out background noise.

/ iStockphoto

A mix of two drugs nixes noise hypersensitivity in an autism mouse model, according to new research1. The findings offer the promise of a similar treatment for autistic people.

People who are unusually sensitive to noise have trouble tuning out background sounds and can become easily overwhelmed. The trait is common among autistic people; up to 70 percent report some kind of sensory sensitivity.

Coming into a party where a lot of people are talking, being able to focus on a single conversation when things around you are loud thats a little bit harder for people with autism, says Michael Halassa, assistant professor of brain and cognitive science at the Massachusetts Institute of Technology, who led the study.

To explore the underpinnings of this trait, Halassas team turned to a mouse model missing the gene PTCHD1. This gene is mutated in 1 percent of autistic people. Most people with the mutation are male, and many also have intellectual disability.

Halassas team found that mice lacking PTCHD1 have an overactive region within the thalamus, a brain area that processes sensory input. As a result, the mice have difficulty filtering out background noise. A new two-drug treatment dampens the animals thalamic activity and increases communication in the prefrontal cortex, enabling the mice to filter sounds as well as controls do.

This type of work is critical for people with autism because sensory abnormalities can be really difficult for people in their daily lives, says Lauren Orefice, assistant professor in genetics at Harvard University, who was not involved in the study. But the work is preliminary, she notes: There is, of course, a lot of work that needs to be done in terms of putting this into patients.

Halassa and his colleagues tested noise hypersensitivity in six mice missing PTCHD1 and six controls. They taught the mice to poke a platform with their nose when they heard a medium-pitched tone, and to refrain from poking when they heard a low- or high-pitched tone.

In an otherwise silent environment, the mutant and control mice perform similarly, the team found. But in the presence of distracting background sounds, the mutant mice poke correctly less often than controls do.

The researchers gave the mice a drug called EBIO, which slows the rate of neurons firing. The drug decreases overactivity in the animals thalamus, boosting their ability to filter sensory input: After a single injection of EBIO, the mutant mice perform as well as controls.

To boost the animals performance further, the researchers changed the setup slightly to engage a second brain circuit: About a half second before they played any of the three tones, they also flashed a light. The visual cue engages the prefrontal cortex, the brain area in charge of planning. Activating that circuit helps the mice anticipate the background noise and recognize the tone.

Remarkably, mice can do better if they are told before noisy trials that there are going to be noisy trials, Halassa says.

Even with the visual cue, the mutant mice do not perform as well as the control mice do, and EBIO only modestly improves their scores. They score only slightly higher when given a different drug, a stimulant called modafinil that enhances cognitive skills such as planning, memory and attention.

But when given both drugs, EBIO and modafinil, the mutant animals perform as well as controls do. The study was published 6 November in Neuron.

This is a big advance for the field, says Audrey Brumback, assistant professor of neurology and pediatrics at the University of Texas at Austin, who was not involved in the research. It breaks down this broadly defined symptom of noise hypersensitivity into its component parts.

The combination cannot be used in people because EBIO can have harmful side effects, including on the cardiovascular system. A similar drug, called chlorzoxazone, could be used with modafinil in people, researchers say, although the side effects require further study. Do the benefits outweigh the costs? Orefice says. In this type of case, it very well could be true.

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Drug combination mutes sensitivity to noise in autism mice - Spectrum

Assault Case Adjourned for Nationalist Party Founder – DiscoverEstevan.com

Travis Patron was back in Regina Provincial Court today on charges stemming from early this month, but had his matter adjourned to January 30.

The Redvers native was charged by Regina Police with aggravated assault, assault causing bodily harm, and breaching probation.

The Regina Police issued the following release:

A 28 year-old Redvers male is facing charges including Aggravated Assault, following an investigation into an assault on two females, alleged to have occurred earlier this month in Regina.On Saturday, November 2, 2019, at about 2:27 a.m., police were dispatched to the 1900 block of Victoria Avenue for a report of an assault.

The information provided indicated that two females, ages 33 and 43, had just been assaulted by a male.

At approximately 3:13 a.m. police located a male, matching the suspect description, walking westbound on Victoria Avenue.

The officers attempted to speak with him but he refused and carried on.

The victims both had visible injuries from the incident and were taken to hospital for treatment.

Further investigation indicated the females and the suspect male had been in conversation earlier in the evening.

The male offered them rides home and, when they declined, the alleged assault occurred.

Police were able to obtain the identity of the suspect and arranged for him to be interviewed.

On November 9th, the male was arrested and subsequently charged.

Patron released a statement on November 13, saying"I will challenge any charges before me in a court of law. I ask the public to suspend their judgement. Thank you."

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Ancestry Websites Great for Finding Relatives and Suspects – Governing

(TNS) Orlando police Det. Michael Fields was sure he had the break he needed right in front of him to close in on a serial rapist: a list of people whose DNA partially matched the man he hunted.

Then the list disappeared.

After a year of criticism from privacy advocates and genealogy experts, the owner of a popular DNA-sharing website had decided law enforcement had no right to consumer data unless those consumers agreed.

"It was devastating to know that there's information out there," Fields said. "It wasn't fair."

So he persuaded a judge to grant him access to the entire database, the genetic records of more than 1 million people who never agreed to police search. It was the first court order in the nation for a blanket consumer DNA search, kept secret from those whose genetic code was involuntarily canvassed.

Genealogical databases are a potential gold mine for police detectives trying to solve difficult cases.

But law enforcement has plunged into this new world with little to no rules or oversight, intense secrecy and by forming unusual alliances with private companies that collect the DNA, often from people interested not in helping close cold cases but learning their ethnic origins and ancestry.

A Times investigation found:

There is no uniform approach for when detectives turn to genealogical databases to solve cases. In some departments, they are to be used only as a last resort. Others are putting them at the center of their investigative process. Some, like Orlando, have no policies at all.When DNA services were used, law enforcement generally declined to provide details to the public, including which companies detectives got the match from. The secrecy made it difficult to understand the extent to which privacy was invaded, how many people came under investigation, and what false leads were generated.California prosecutors collaborated with a Texas genealogy company at the outset of what became a $2-million campaign to spotlight the heinous crimes they can solve with consumer DNA. Their goal is to encourage more people to make their DNA available to police matching.There are growing concerns that the race to use genealogical databases will have serious consequences, from its inherent erosion of privacy to the implications of broadened police power.

There are growing concerns that the race to use genealogical databases will have serious consequences, from its inherent erosion of privacy to the implications of broadened police power.

In California, an innocent twin was thrown in jail. In Georgia, a mother was deceived into incriminating her son. In Texas, police met search guidelines by classifying a case as sexual assault but after an arrest only filed charges of burglary. And in the county that started the DNA race with the arrest of the Golden State killer suspect, prosecutors have persuaded a judge to treat unsuspecting genetic contributors as "confidential informants" and seal searches so consumers are not scared away from adding their own DNA to the forensic stockpile.

After L.A. County prosecutors filed two counts of murder against a man linked to a pair of decades-old cold cases byconnecting the suspect through a genealogy match, Dist. Atty. Jackie Lacey refused to provide details of the genetic work including the commercial genealogy service used. Similar genealogy searches remain sealed elsewhere in California, Texas and Florida.

"They're afraid that if the public finds out what we're doing, we won't be allowed to do it anymore. So the solution is, 'Don't tell the public,'" said Erin Murphy, a former defense attorney who teaches law at New York University and has become an outspoken critic of what she says is open season on consumer DNA.

DNA for decades has been law enforcement's slam dunk, an invaluable tool to identify human remains and put killers and rapists at the scene of the crime. But until a year ago, searches for unknown suspects were limited to the partial "junk DNA" of felons and criminal suspects held in government-supervised databases.

That changed dramatically in April 2018 when a team of investigators in Sacramento County announced they had matched 38-year-old crime-scene DNA with the killer's relatives on a public genealogy site. The arrest of former police officer Joseph James DeAngelo, now charged with 13 murders and awaiting trial, unleashed a wave of consumer DNA hunts across the United States.

The Times found consumer DNA used to declare closure of 66 cases. They involved 14 suspected serial killers and rapists and unsolved crimes going back to 1967, but also the remains of a miscarriage pulled from a sewer and the hunt for a man sneaking into bedrooms. Forensic labs claim to have closed more than a dozen other cases.

"It is probably one of the greatest revolutions, at least I would say, in my lifetime as a prosecutor," said Sacramento County Dist. Atty. Ann Marie Schubert. "But it is a difficult, evolving topic because there are privacy interests at stake and in an area that's unregulated."

Government DNA databases for a decade have allowed crude familial searching that can identify a suspect's parent, child or sibling. But the full chromosomal information held by private services can identify those who share 1% of DNA and are five or more generations removed. Merging that with other consumer data, researchers then can identify relatives two and three generations removed.

Those consumer databases contain genetic code of some 26 million Americans, and so many of European descent that scientists say in a few years they'll be able to identify every Anglo-Saxon American through family DNA.

"There are a whole bunch of stressed-out white guys right now," Schubert quipped.

But critics say police searches invade the privacy of those who submitted their DNA strictly out of curiosity about their ancestry, and their relatives who didn't even consent to that.

Suspects in the Golden State Killer case and most of those that followed were pinpointed by identifying DNA relatives on GEDMatch, a no-frills DNA registry popular with genealogists and adoptees seeking their birth parents. At least twice, GEDMatch allowed police access in cases that ultimately did not meet its policies, and at least once police conducted their hunt without permission using a fake account.

The nation's two largest genealogy services, Ancestry and 23andMe, say they do not grant law enforcement access to their consumer data. But a third, smaller company, FamilyTreeDNA, openly permits law enforcement use except for those customers who specifically opt out.

Few safeguards protect the genetic profiles of millions of consumers on genealogy sites.

Familial DNA searches of the past, done on those within the FBI's national criminal database, were restricted, and California's Department of Justice required case-by-case oversight by an independent committee. The private lab in Virginia handling the bulk of public gene-matching cases argues consumers don't require the same level of protection because they voluntarily mailed in their DNA.

What oversight exists is inconsistent. A U.S. Justice Department policy that went into effect this month limits consumer DNA searches to violent crimes and strictly as a tool of last resort.

Prosecutors in a handful of California counties, including Los Angeles, Sacramento, Orange and Ventura, this spring created their own more lenient rules. Sacramento and Ventura permit consumer searches before all other leads have been exhausted, and in the case of Ventura County, the crime involved does not have to be violent.

Sacramento prosecutor Schubert said the rules guard against uses that might backfire and restrict DNA searches even further.

"I don't want some cop out there doing genealogy on a car [burglar]," Schubert said. "We're identifying people through other people. ... I recognize there are privacy rights."

But most police agencies are like Orlando, which has no DNA policy. Det. Fields said he was guided by "common sense" in the two cases he has searched consumer DNA the July hunt for a serial rapist, and a 2018 arrest of a man for the unsolved murder of a college co-ed.

Fields had spent half a dozen years looking for leads in the 2001 murder of Christine Franke. A Virginia based forensics service, Parabon Nanolabs, used DNA found on Franke's body to predict the race and facial characteristics of her killer. But Fields could get no further until the day Sacramento announced its arrest of the suspect in the Golden State Killer case.

Parabon called Fields offering to replicate the methods to look for Franke's killer.

"I said, absolutely," the detective recalled. "Parabon turned that case around overnight and came up with two family matches, actually three, immediately."

What Parabon provided were GEDMatch accounts of two second and third cousins of the suspected killer the same information any other user of the DNA registry would see. The results show the number of genome locations that match, with each match called a centimorgan. A mother and son would share about 3,400 centimorgans; a suspect's second cousin once removed might have 123 in common.

Field's team then used traditional genealogy to trace those relatives back to a common ancestor from the 1890s. They then built out a huge family tree of every descendant of that ancestor, and started going down the branches.

But eight branches had no DNA, so investigators asked 15 people to provide it. Fields declined to say how these people were convinced. The defense lawyer for the man Fields subsequently arrested said it was by lying.

"They went to Georgia, said there was an African American female murdered who was more than likely related to them," said Orlando lawyer Jerry Girley. Relatives were told that by providing their DNA, Girley said, "their loved one could rest in peace."

Instead, Orlando police days later arrested the son of one of the elderly women tested.

"She is devastated," Girley said.

"Give them an inch, and they'll take it to Mars," he said. "I tell people, 'Don't put your DNA in the system.' (Police) see it as a side door around the 4th Amendment."

The suspect in that case, Benjamin Lee Holmes, has pleaded not guilty. He is jailed awaiting trial, which is set for next year.

Researchers at Baylor College of Medicine found more than 90% of those polled online favored police access to consumer DNA when it comes to murder cases.

"None of us want violent criminals roaming the street," said medical ethicist Amy McGuire, one of the Baylor researchers and also an advisor to FamilyTreeDNA.

But the Baylor study found public support for DNA searching dropped to 34% when the crimes were not violent and police wanted the names of account holders.

GEDMatch at first allowed law enforcement searches only for violent crimes. But GEDMatch permitted gene matching for a teen who broke into a Utah church, assaulting a woman in the process. And it helped police in Texas hunt for a man creeping into women's bedrooms.

The bedroom intruder had slipped into 14 apartments, stealing nothing but sometimes touching a sleeping woman while masturbating. College Station police hired Parabon Nanolabs in Virginia, which used DNA from one break-in to identify a cousin on GEDMatch.

The arrested man is charged with second-degree burglary, a crime that does not meet GEDMatch's restricted use policy. But Parabon's chief genealogist, CeCe Moore, said the case was presented to the company as a sexual assault.

"We wanted to catch him before it escalated," said College Station Officer Tristan Lopez. Like most law enforcement departments, the police agency would not provide details of that DNA hunt.

Moore said Parabon has opened about 300 DNA searches and that the lab has solved almost 100 cases though arrests have not yet been made in several dozen of those cases.

In reaction to growing privacy concerns, GEDMatch in May closed its database to law enforcement unless users specifically agreed to opt in.

By then Fields had moved on to a second case an unsolved rape and had already seen early results on GEDMatch identifying relatives of the suspected rapist. Rather than lose that list with the policy change, he secured a warrant to the entire database. The search remained a secret for four months, until Fields revealed it at a law enforcement conference, encouraging other agencies to conduct DNA matching.

The warrant does not completely undermine efforts to ensure privacy, said GEDMatch co-founder Curtis Rogers.

"The protection offered by having a court review is better than no protection at all," he said.

Critics did not agree, and said the repeated policy breaches and global search warrant show how easily privacy falls away.

"There's always a danger that things will be used beyond their initial targets, beyond their initial purpose," said Vera Eidelman, a DNA expert for the American Civil Liberties Union. She pointed to the way DNA searches at first limited to convicted felons now span the mothers, brothers, uncles, grandparents and cousins twice removed of people who simply want to know if they are German or a Viking.

FamilyTreeDNA lab manager Connie Bormans bristles at any use of the word 'searching.' Police see no more than any other user just the account name and contact information a user provides unless they get a warrant. She has turned away law enforcement efforts that don't meet the company's permitted-use rules.

Bormans said she can't envision a scenario where the familial search would backfire. "It is only a tool," Bormans said. "There is no way that they will get a profile and arrest someone solely on the profile."

But in California early this year, police investigating the 1995 rape of a 9-year-old schoolgirl in Lake Forest and a 1998 rape of a jogger in the same town used FamilyTreeDNA to identify not one, but two suspects. They were identical twins, sharing the same DNA. Both brothers were jailed until undisclosed additional evidence led to freedom for one and rape charges against the other. The Orange County district attorney's office and Sheriff's Department did not respond to requests for additional information about the basis for the arrests. The district attorney subsequently adopted a DNA searching policy that precludes arrests based on family matching alone.

Legal scholars said it is only a matter of time before courts weigh in on the privacy of DNA.

Only one of the 66 DNA-derived cases identified by The Times has gone to trial a Washington man convicted of killing a Canadian couple in the 1980s and the defense lawyer there agreed not to challenge the GEDMatch work that led police to her client.

In 27 other cases, the accused perpetrators either were already dead, confessed or pleaded guilty. Prosecutors in Virginia and California have asked judges to treat the DNA as a "genetic informant."

Schubert's office is blocking disclosure of the DNA trail that led to the arrest of two accused serial rapists from the 1980s and 1990s. Her attorneys told one judge that secrecy must extend beyond the names of relatives whose DNA was examined to the names of the companies providing that information keeping it secret even from defense lawyers.

Schubert's staff successfully argued such disclosure might "result in a backlash against that site resultingin a tightening of restrictions on the site or use of the site."

They added: "If individuals in society stop wanting to enter DNA in consumer genealogical databases for fear their privacy is not being protected, then law enforcement loses a powerful technique to solve crime."

Concern about losing access to the DNA brought two California prosecutors to Texas.

Public records show Schubert and Orange County assistant prosecutor Jennifer Contini met on a Sunday in June with Bennett Greenspan, the CEO of FamilyTreeDNA. They sought his help in expanding the DNA available to police, including a campaign to convince consumers to share their genetic data.

"We both really feel that we ought to start an 'I'm in campaign'" Schubert wrote to Greenspan the next day. "Jennifer and I thought perhaps something like 'I'm in for Freedom and Safety' ... or 'I'm in for Safety and Freedom' might be an idea for a tag line."

The FamilyTreeDNA executive offered the help of his public relations company to arm Schubert with "compelling content."

"We need to provoke the question in a way that we will be able to provide the reasonable answer," Greenspan wrote.

Less than a month later, the Institute for DNA Justice was born.

The nonprofit has announced a $2-million campaign. Registration papers identify Schubert as its CEO and Ventura County Dist. Atty. Greg Totten as chief financial officer. There is no direct link to FamilyTreeDNA, but inquiries by The Times to the law firm handling the papers were forwarded to FamilyTreeDNA's media relations firm. A spokeswoman for the media firm said its work for FamilyTreeDNA and the nonprofit are separate, though performed by the same people.

The Orlando cop who bypassed GEDMatch's privacy policy is nonplussed by the concerns over privacy and public buy-in.

"It's Big Brother, but Big Brother's been here for decades," Fields said. "Everyone's trying to focus in on this because it's DNA, but it's no different than anything else that we do in our everyday lives. Police with a piece of paper and the judge can override almost anything."

2019 the Los Angeles Times.Distributed byTribune Content Agency, LLC.

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Ancestry Websites Great for Finding Relatives and Suspects - Governing

Couple overcomes infertility and 50 percent chance of baby having cystic fibrosis – Asheboro Courier Tribune

At four months old, Zack was diagnosed with CF a genetic disease that causes severe damage to the lungs, digestive system and other organs. Rachel was diagnosed as a carrier of the CF gene at 23.

According to the Cystic Fibrosis Foundation, 98 percent of males with CF are infertile. Those who are just a carrier of the gene, like Rachel, are not at risk of their own health being impacted, but are at an increased risk of having a child with CF.

When we decided to start our family planning, we knew we would likely need in vitro fertilization (IVF) assistance and we knew the importance of pregenetic testing to increase the chances of our baby not inheriting CF, Rachel said. We did our research and thats when we learned about Dr. Deaton and his fertility groups success.

As a middle school science teacher in Randolph County, Rachel, 29, teaches her students about genetics. She was aware of the challenges that she and her husband could face on their journey to start a family.

Since Rachel is a carrier of the CF gene and Zack has CF, the odds of their baby having cystic fibrosis were significantly increased to 50 percent, said Jeff Deaton, M.D., director of the Center for Fertility, Endocrine and Menopause at Wake Forest Baptist Health.

In the Cashatts case, 41 eggs were extracted from Rachel; 16 of those matured to the next process, then four were suitable for the preimplantation genetic testing (PGT) process which showed that only one of those would not result in CF, Deaton explained.

We waited to see if the embryo would take and it did nine months later, Rachel and Zack had a healthy baby boy who does have the CF gene, but will not develop the disease, Deaton said.

Rachel and Zacks son, Oliver, was born in March of this year.

Oliver is such a happy baby and, most importantly, healthy, Rachel said. We wanted to do everything in our power to ensure he didnt have the same disease as my husband and through this technology and expertise, thats exactly what we received. Sometimes its still hard to believe.

PGT is a procedure used in conjunction with IVF implantation to help identify genetic defects within embryos. This process serves two purposes:

To increase the odds of a successful implantation.

To prevent certain genetic diseases or disorders from being passed on to the child.

Wake Forest Baptist is continuously ranked as one of the most successful fertility treatment centers in the state and nation, according to the Society for Assisted Reproductive Technology.

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Couple overcomes infertility and 50 percent chance of baby having cystic fibrosis - Asheboro Courier Tribune

Meet Mister Weasley – the rescue rooster who started life as a hen – Cork Beo

Mister Weasley has had an exciting life in the last year, he got a new home, a new family and discovered that he is not a hen but is actually a rooster!

The rooster was adopted by Niamh Guibe and her family at a hen run organised by LittleHill Animal Rescue and Sanctuary in Bandon last year.

The rescue centre aims to re-home hens who have reached the end of their peak productive lives with the male chicks being destroyed after a few days of life.

Niamh went to the hen run hoping to adopt two more to add to the four the family already had at home and she explained to us that roosters were never brought to hen runs as they do not lay eggs and therefore have no place at a factory.

She told CorkBeo about the moment she saw Mister Weasley for the first time and how he became the newest member of the family.

"In the first crate they opened there were a few hens and then I saw this big bird with wattles and a big comb and I said to the people running the run 'that's a rooster not a hen'".

"They said that maybe he was just a weird looking hen but then they looked him over and decided that he was in fact a rooster".

"They decided to take him back to Little Hill and I put the two hens in the car to take them home but I couldn't stop thinking about him. He had been with these hens his whole life and I just couldn't leave him there"

"He looked really sad and lonely so we took him home. We came home with three animals instead of two but I just couldn't leave him behind".

"Before we went to the hen run, my kids and I decided that we were going to name them Molly and Ginny Weasley but then obviously we came back with a male too so he became Mr Weasley".

Niamh explained to us how Mister Weasley may have started off as a hen and evolved in to a rooster, but there is also a possibility that he was born male and just mixed in with a crowd of hens.

"The vet thinks that he is a genetic male but sometimes if a hen only has one ovary they can transition to male so he might be one of those. I think he is just a confused rooster".

He doesn't really behave like a rooster so in terms of his behaviour I think he is halfway between a hen and a rooster. It doesn't really matter what he is, he is just such a lovely creature and we are very glad that we have him. He has enriched our lives".

"Mister Weasley is a gentle giant and he looks after all the hens making sure that they get shelter and if there is a fight he gets in between them".

On Sunday, LittleHill Animal Rescue will travel to Fermoy and Youghal with hundreds of rescued hens who are seeking their forever homes. The charity is appealing to kind-hearted people throughout Cork city and county to take home a few of these quirky creatures, as they will otherwise be sent to slaughter.

To acquire feathered friends of your very own, send a private message to the charitys Facebook page, LittleHill Animal Rescue & Sanctuary stating the number of hens you would like to adopt and the collection town for this Sunday the 26th: Youghal or Fermoy.

People without a Facebook account can ask a relative or friend to reserve hens on their behalf. A small adoption fee of six euro per hen applies.

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Meet Mister Weasley - the rescue rooster who started life as a hen - Cork Beo

The Relationship Between Humor and Depression – Psychology Today

People's experiences of humor vary, and humor servesmany different functions in our daily lives. Sometime we use humor as a coping mechanism when things are not going well, andother timeswe enjoy a good laugh with our friends. Researchers use various scales to assess our experiences of humor, butby far the mostcommon one is the Humor Styles Questionnaire. The scale,developed by Rod Martin and his students, is used to assesshow people usehumor in their daily life and has been used in hundreds of studies.

People are asked to ratehow much they agree or disagree with various statements(e.g., "I enjoy making people laugh."). Their answerscreate a score onfour humor styles. The styles are:

Affiliative Humor: Tendency to share humor with others, tell jokes and funny stories, make others laugh, use humour to facilitate relationships, put others at ease.

Self-Enhancing Humor:Tendency to maintain a humorous outlook on life even when not with others, use humor in coping with stress, cheer oneself up with humor.

Aggressive Humor:Tendency to use humor to disparage, put down, or manipulate others; use of ridicule, offensive humor; potentially use sexist and racist jokes.

Self-Defeating Humor: Tendency to amuse others at ones own expense, self-disparaging humor; laughing along with others when being ridiculed or teased; using humor to hide ones true feelings from self and others.

You can take the testfor yourself and see how you score on each ofthe four humor styles.

A recent study looked at the relationship between these styles anddepression.Depression is a serious mental illness that affects millions of people around the world. Scoring high on the two positive humor styleshasbeen linked with various positive health outcomes, such as being happier and having healthier relationships. On the other hand, having high scores on the negative humor styles can have a negative effect on one's health.

The current study looked at the relationships between the four humor styles and depression. The researcherswanted to test whether people diagnosed with depression score high on the two negative humor styles, and low on the two positive styles. In addition, they looked at whether there is a genetic underpinning to the relationship between humor styles and depression.

Sad girl

Source: darksouls1/Pixaby

To do so, they recruited a sample of 1,154 Australian twins. Three hundred thirty-nine of themwere identical, and 236 were non-identical. All were same-sex twins, with both male and female pairs represented. Of the whole sample, 145 individuals werediagnosed with depression. All twins completedthe Humor Styles Questionnaire and in addition, answeredthree questions pertaining to depression. These questions were taken from different scales and are in line with items used to diagnosedepressive disorder, though no official diagnosis was performed.

The results of the study showed first, that women were two and half times more likely than men to suffer from depression, a fact that has beenfound in other studies. Second, as predicted, people diagnosed with depressionused self-defeating humor more than non-depressive people. In addition, depressive twins used the two positive humor styles (affiliativeand self-enhancing) less then non-depressive twins, also as hypothesized. Contrary to the prediction, there were no differences in the use of aggressive humor among the depressive and non-depressive twins.

Next, the researchers looked at the possible genetic and environmental factors that may account for these correlations. Comparisons between identical andnon-identical twins allow us to extract the relative contributions of genetic and environmental factors to a given trait or correlation byusing behavioral genetics tools. Such analyses revealed that 26% of the differences in the depression scores were attributed to additive genetic factors, while 74% were due to non-shared environments (e.g., the twins being in different classrooms, having unique friends). Shared environments (e.g., raised by the same family) had 0% influence.

Other results showed that the positive correlation between the depression scale and self-defeating humor, and the negative correlation between the depression scale and self-enhancinghumor, each have an underlyinggenetic factor influencing the correlations.

In sum, the study not only established that humor styles are correlated with depression, but also that at least some of these correlations are theresultof some underpinninggenetic influences (thoughnot identifiable yet). The researchalso highlights the fact that humor is not always good for us, and in some cases mighthave severe negative effects.

Correlations, of course, do not imply causation, and it is unclear what they mean exactly.Do people suffering fromdepression choose to use more negative styles of humor and not try to improve their situation by using a more positive humor style? Or perhaps using a negative humor styleis influencing depression? The third and likely possibility is that certain factors (both genetic and environmental) affectdepression and the use of negative styles, but more research is needed on this topic.

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The Relationship Between Humor and Depression - Psychology Today

Fertility Specialists of Texas Expands Access to High-Quality Treatment for Thousands of Infertile Couples in Fort Worth – PR Web

Fort Worth is such a warm and friendly city and is a great place to raise children. I am very excited to be able to help people in the Fort Worth area achieve their dreams of parenthood.

FORT WORTH, Texas (PRWEB) November 22, 2019

Fertility Specialists of Texas (FST), known for maintaining consistently high pregnancy and birth rates, continues to expand access to high-quality fertility care with the opening of a new office in Fort Worth, Texas.

The move into Fort Worth the centers fifth office and second in Tarrant county was driven by a desire to increase its ability to offer comprehensive fertility services tailored to the unique needs of thousands of couples who battle infertility in the community.

Statistically, 1 in 8 couples in the United States are unable to achieve or maintain a pregnancy, says Dr. Jerald S. Goldstein, FST Medical Director and Founding Partner. If you apply this number to Tarrant County, it equates to more than 40,000 couples who are desperate to have a biological child and need the assistance and support FST delivers.

Our Southlake office has been instrumental in serving this community and the opening of our Fort Worth location dramatically increases the ease and accessibility of quality care.

FST is committed to helping all couples in Tarrant County realize their dreams of parenthood by delivering the same level of dedication melded with the latest technology and individualized protocols it has been delivering for more than a decade.

Our strong success rates are attributable to many factors, including our cutting-edge IVF laboratory, the use of genetic screening with in vitro fertilization (IVF) and the more than 100 years of combined experience among our team of fertility specialists, says reproductive endocrinologist Dr. Barbara J. Stegmann.

With a dedicated clinical team, FSTs Fort Worth fertility center provides a wide range of onsite services delivered with a proactive, patient-focused approach.

Fort Worth is such a warm and friendly city and is a great place to raise children, says Dr. Stegmann. I am very excited to be able to help people in the Fort Worth area achieve their dreams of parenthood.

Fertility Specialists of Texas Fort Worth is in the Baylor All Saints Professional Pavilion, 1250 8th Avenue, Suite 245, Fort Worth, Texas 76104. For more information on the new office and services provided by Fertility Specialists of Texas, visit FertilityTexas.com

About Fertility Specialists of TexasFertility Specialists of Texas is a leader in the field of reproductive medicine in the Dallas/Fort Worth area, with offices in Frisco, Dallas, Rockwall, Southlake and Fort Worth, Texas. The practice specializes in in vitro fertilization (IVF), male factor infertility, cryopreservation, third-party reproduction and genetic screening.

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Fertility Specialists of Texas Expands Access to High-Quality Treatment for Thousands of Infertile Couples in Fort Worth - PR Web

City of Hope to lead national research aimed at improving testing/treatment for devastating cancer-causing syndrome – Business Wire

DUARTE, Calif.--(BUSINESS WIRE)--Persons who inherit Li-Fraumeni syndrome (LFS) have an extremely increased risk of developing cancer. For instance, females with the syndrome have a 50% chance of developing cancer by the age of 30 and a 90% chance over their lifetime; males with the syndrome have a 70% chance of cancer over their lifetime.

LFS was first described 50 years ago, and 30 years ago the syndrome was linked to inheriting a mutation in the TP53 gene. City of Hope scientists and others worldwide have made advances in identifying and treating people with the syndrome, but more work remains to be done.

A new $8.5 million, five-year grant from the National Institutes of Health seeks to advance research and treatment for this serious syndrome, which can cause multiple cancers, including sarcomas, brain and breast tumors, and adrenocortical cancers.

This is a devastating syndrome to have weve cared for families with babies who had brain tumors at 18 months, said Jeffrey Weitzel, M.D., director of City of Hopes Division of Clinical Cancer Genomics, the Dr. Norman & Melinda Payson Professor in Medical Oncology and the grants co-principal investigator. City of Hope and our partner institutions are determined to develop a better understanding of the cancer risks associated with different TP53 mutations so we can better tailor screening, prevention and treatment for these patients. We are seeing the light at the end of the tunnel but more research is needed.

The project, termed LiFTUP (Li Fraumeni and TP53 Understanding and Progress), which is co-led by Judy E. Garber, M.D., M.P.H., of Dana-Farber Cancer Institute and Christopher I. Amos, Ph.D., of Baylor College of Medicine, will provide the largest and most comprehensive examination of TP53-associated cancer risk.

Traditionally, clinical TP53 testing was limited to individuals and families who met specific criteria (typically multiple cancers at very young ages). With the introduction of next-generation-based multigene panel testing, which sequences a persons genome faster and is less costly than previous genetic tests, TP53 testing is now performed on large numbers of people who do not meet the syndromes criteria. However, the testing has also raised concerns about false positives, or a test result that incorrectly indicates the syndrome is present.

Thats because blood samples are often used for genetic testing and people may develop TP53 gene mutations in rapidly growing blood cells as they age. Researchers will also examine this group of people to find out why some people in this group develop blood cancers while others do not.

The inherited syndrome is rare. Only about 1,000 children and adults nationwide are included in the Li-Fraumeni Exploration Consortium, and researchers working on this project will also recruit TP53 carriers identified through broader, more agnostic approaches to testing, including commercial genetic testing laboratories, the Geisinger MyCode project, the PROMPT study of individuals with germline mutations and the ORIEN tumor/germline sequencing project.

Carriers of true germline TP53 mutations may bear the psychological, medical and financial costs of striking personal and family cancer risks, the burden of intensive surveillance, the high risks of cancer deaths at disproportionately young ages and the weight of possibly passing TP53 variants to offspring, according to the team.

Consequently, a crucial question researchers want to answer is why some people with a TP53 mutation develop cancer while others do not.

Were looking at thousands of markers across the whole genome to find out if there are patterns that influence why two TP53 carriers with the same mutation have different outcomes, Weitzel added. We will do a clinical and molecular interrogation of the factors that influence the development of cancer.

Our hope is that by focusing more research on children and adults with the TP53 mutation, we will be able to take better care of these individuals, Weitzel said.

About City of Hope

City of Hope is an independent biomedical research and treatment center for cancer, diabetes and other life-threatening diseases. Founded in 1913, City of Hope is a leader in bone marrow transplantation and immunotherapy such as CAR T cell therapy. City of Hopes translational research and personalized treatment protocols advance care throughout the world. Human synthetic insulin and numerous breakthrough cancer drugs are based on technology developed at the institution. A National Cancer Institute-designated comprehensive cancer center and a founding member of the National Comprehensive Cancer Network, City of Hope is the highest ranked cancer hospital in the West, according to U.S. News & World Reports Best Hospitals: Specialty Ranking. Its main campus is located near Los Angeles, with additional locations throughout Southern California. For more information about City of Hope, follow us on Facebook, Twitter, YouTube or Instagram.

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City of Hope to lead national research aimed at improving testing/treatment for devastating cancer-causing syndrome - Business Wire

Global Male Infertility Treatment Market: Development History, Current Analysis and Estimated Forecast to 2025 – Market Research Reporting

According to Word Health Organization, Infertility is the inability of a sexually active, non-contraception couple to achieve pregnancy in one year. About 15% of couples do not achieve pregnancy within 1year and seeking for infertility medical treatment. Less than 5% of world population is unwillingly childless. Approximately 90% of male infertility cases are seen mainly due to low sperm counts, and poor sperm quality. The remaining cases of male infertility can be caused by a number of factors including anatomical problems, hormonal imbalances, and genetic defects.

Access Report Details at: https://www.themarketreports.com/report/global-male-infertility-treatment-market-research-report

The global Male Infertility Treatment market is valued at xx million US$ in 2018 is expected to reach xx million US$ by the end of 2025, growing at a CAGR of xx% during 2019-2025.

This report focuses on Male Infertility Treatment volume and value at global level, regional level and company level. From a global perspective, this report represents overall Male Infertility Treatment market size by analyzing historical data and future prospect. Regionally, this report focuses on several key regions: North America, Europe, China and Japan.

Key companies profiled in Male Infertility Treatment Market report are Emd Sereno, Aytu Bioscience, Bayer, Cadila, Intas Pharma, Halotech Dna, Scsa Diagnostics, Andrology Solutions and more in term of company basic information, Product Introduction, Application, Specification, Production, Revenue, Price and Gross Margin (2014-2019), etc.

Purchase this Premium Report at: https://www.themarketreports.com/report/buy-now/1415018

Table of Content

1 Male Infertility Treatment Market Overview

2 Global Male Infertility Treatment Market Competition by Manufacturers

3 Global Male Infertility Treatment Production Market Share by Regions

4 Global Male Infertility Treatment Consumption by Regions

5 Global Male Infertility Treatment Production, Revenue, Price Trend by Type

6 Global Male Infertility Treatment Market Analysis by Applications

7 Company Profiles and Key Figures in Male Infertility Treatment Business

8 Male Infertility Treatment Manufacturing Cost Analysis

9 Marketing Channel, Distributors and Customers

10 Market Dynamics

11 Global Male Infertility Treatment Market Forecast

12 Research Findings and Conclusion

13 Methodology and Data Source

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Global Male Infertility Treatment Market: Development History, Current Analysis and Estimated Forecast to 2025 - Market Research Reporting

Some gorillas have developed WEBBED FEET and other harmful mutations due to inbreeding – Stock Daily Dish

The worlds biggest gorilla is developing webbed feet as a result of inbreeding among its dwindling population, according to a new study.

A Grauers gorillas chances of being born with harmful mutations that cause fused digits have soared in the last 100 years.

Loss of genetic diversity in the critically endangered ape species, which grow to 6.1ft tall and weigh 460 pounds, has also seen losses of male fertility and disease resistance.

The findings were made by comparing genes taken from the primate, which is native to forests in the Democratic Republic of the Congo, from 100 years ago to present day.

Only a few thousand of the gorillas remain in the wild after poaching and habitat destruction saw its population plummet by 80 per cent in recent decades.

The mutations increase the risk that the magnificent beast is wiped out completely due to disease.

Lead author Tom van der Valk, a PhD student at Uppsala University in Sweden, said: We found that the genetic diversity in Grauers gorilla has declined significantly in just a few generations.

The results from the comparison of historical and modern genomes show that this decline has led to increased inbreeding and a loss of genetic variation.

This in turn means that Grauers gorillas have likely become less able to adapt to future disease outbreaks and changes in their environment.

In addition, the scientists identified several mutations that are probably harmful and that have increased in frequency over the past four to five generations as a consequence of the decline in population size.

He added: Some of the potentially harmful mutations that have increased in frequency were found in genes that affect disease resistance and male fertility.

In addition, the researchers identified mutations leading to loss of function in genes associated with finger and toe development, which likely explains why present-day gorillas sometimes have fused digits.

His international team of researchers made the findings after comparing 11 genome sequences from present-day gorillas and collections stored in museums over the last century.

Co-author Professor Love Daln, at the Swedish Museum of Natural History, said: This recent increase in harmful mutations really emphasises the need to reverse the ongoing population decline in Grauers gorillas.

The researchers also found the closely related mountain gorilla, however, did not suffer any significant genetic changes over the same period.

This suggested its genetic viability has remained stable over the past 100 years.

Mr van der Valk explained: Interestingly, the reason why Grauers gorillas have been more severely affected than mountain gorillas may lie in their deeper history.

A study published in January 2017 warned that for most of the worlds 504 primate species, it is now the 11th hour on earth with nearly two thirds facing extinction and 75 per cent of populations in decline.

Researchers have warned the worlds primates are in danger from human activities

Behind the collapse in numbers is an increase in industrial agriculture, large-scale cattle ranching, logging, oil and gas drilling, mining, dam building and road construction.

The illegal trade in bushmeat killing apes and monkeys for their flesh is also decimating the animals, as is changing climates and diseases spread from humans to apes.

Growing trees to produce palm oil used in many popular foods is a particular threat to primates in Indonesia, as is mining for gold and sapphires in Madagascar.

With many species living in rainforests, the cutting down of millions of acres of forest to supply the increasing demand for timber or to clear land for agriculture is destroying their habitat and making populations more fragmented.

While Grauers gorillas went through a major increase in numbers between 5,000 and 10,000 years ago, mountain gorillas have been rare for several thousands of years.

This long-term small population size may have enabled natural selection to remove harmful mutations before mountain gorilla numbers started to decline in the 20th century.

Co-author Assistant Professor Dr Katerina Guschanski, of Uppsala University, added: Our study highlights that historical museum specimens constitute a unique resource for monitoring recent changes in the genetic status of endangered species.

The results have been published in Current Biology.

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Some gorillas have developed WEBBED FEET and other harmful mutations due to inbreeding - Stock Daily Dish

Science Talk – Men’s Health Awareness Month: 12 months of progress into male cancer research at the ICR – The Institute of Cancer Research

Image:False-coloured, high magnification, scanning electron micrograph (SEM) of a three dimensional multi-cellular prostate tumour spheroid (cluster of cells). Credit:Izzat Suffian, David McCarthy & Khuloud T. Al-Jamal. License:CC BY 4.0

Our first news on male cancers in the past year was from a study led by scientists here at The Institute of Cancer Research. They showed that testicular cancer in families is usually caused by the accumulation of minor genetic changes that have only a small effect on their own, but together can add up to a significant risk.

The important study showed that a mixed set of common, single-letter changes to the DNA code, each of which slightly increase a mans risk of testicular cancer, plays the biggest role in causing the disease rather than lifestyle factors, or small numbers of major genetic mutations that each have a big impact on risk.

Study leaderProfessor Clare Turnbull, Team Leader inMolecular and Population Geneticsat the ICR, said:

Our study uncovers the genetic basis for familial cases of the most common type of testicular cancer, and represents an important step forward in our understanding of the disease.

In the short term, our discovery will help in counselling men who might be worried about their risk of developing testicular cancer. In the longer term, it could help inform future screening programmes for testicular cancer that might diagnose it earlier.

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In February we shared news about a new way to plan radiotherapy that could help shape treatment away from sensitive organs near tumours to reduce side-effects.

The technique was developed by physicists at the ICR and our partner hospital,The Royal Marsden, and involves using complex mathematical formulae to spare sensitive organs from radiation damage.

Study leaderProfessor Uwe Oelfke, Head of theJoint Department of Physicsat the ICR and The Royal Marsden, said:

Radiotherapy is a very effective treatment for cancer, but the damaging effect of radiation on healthy tissue can lead to challenging side-effects that can affect a patients quality of life. Treatment margins are necessary to ensure the whole tumour is targeted, but a safe reduction of these margins is key to further improving outcomes for patients.

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In April we revealed that a new panel of genes could identify men at highest risk of aggressive prostate cancer.

The study was the largest of its kind so far, both analysing all known DNA repair genes, and including a comparison with healthy men to determine the effect of gene changes on prostate cancer risk.

Our wide-ranging programme of prostate cancer research is helping men to live longer, improving their quality of life and increasing cure rates.

Find out more

In the future, the panel could be developed into a test for use in screening services so that high-risk men could be closely monitored, increasing the chance of catching the disease early.

Professor Ros Eeles, Professor ofOncogeneticsat the ICR, said:

At the moment, men can receive a diagnosis of prostate cancer without really knowing how the disease is likely to affect them, but in future a test could pick out those who are likely to develop aggressive disease and need intensive treatment.

Testing for genes linked with aggressive prostate cancer could be especially helpful for informing treatment decisions in men already diagnosed with the disease.

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During the ASCO 2019 cancer conference, we shared news about how olaparib, a pioneering gene-targeted drug already licensed for breast and ovarian cancer, can also benefit some men with prostate cancer.

The results showed the benefits of olaparib, which is from a family of drugs called PARP inhibitors, for men with prostate cancer and DNA repair defects in their tumours.

Dr Nuria Porta, Principal Statistician on the TOPARP-B trial in theClinical Trials and Statistics Unitat the ICR, said:

Our trial shows that PARP inhibitors could be effective in some men with prostate cancer potentially widening out their use beyond ovarian and breast cancer.

We also found that these drugs could be effective in men with several different DNA repair mutations, and in men with genetic faults in their tumours rather than just the smaller group of men with inherited mutations.

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At Septembers European Society for Medical Oncology (ESMO)Congress, we announced further news about olaparib.

The drug was shown to be more effective than modern targeted hormone treatments at slowing progression and improving survival in some men with advanced prostate cancer, according to the findings of a phase III clinical trial called PROfound.

Professor Johann de Bono, Regius Professor of Cancer Research at the ICR and Consultant Medical Oncologist at The Royal Marsden NHS Foundation Trust, who co-led the PROfound trial, said:

Our clinical trial shows that olaparib, a pill without the side-effects of chemotherapy, is able to target an Achilles heel in cancer cells. Olaparib is able to kill cancer cells with faulty DNA repair genes while sparing normal cells.

This study is a powerful demonstration of the potential of precision medicine to transform the landscape for patients with the commonest of male cancers.

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Last month a new study showed that taking a fingerprint of the mix of bacteria in the gut can indicate how susceptible individual cancer patients are to gut damage as a result of radiotherapy for prostate and gynaecological cancers.

The research is the first to explore the protective effects of the microbiome in prostate cancer patients and at preventing the late effects of radiotherapy.

Professor David Dearnaley, Professor of Uro-Oncology at the ICR and Consultant Clinical Oncologist at The Royal Marsden said:

Our study is the first to show that gut bacteria have an important influence on how susceptible patients are to gastrointestinal side effects from radiotherapy. If microbial treatments such as faecal transplants are found to reduce damage, for example, it could substantially improve patients quality of life.

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We are building a new state-of-the-art drug discovery centre to create more and better drugs for cancer patients, including for male cancers.

The centre is a 75m project and we now have less than 14m to raise.To make our building a reality, we urgently need your philanthropic support.

Support our appeal

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Science Talk - Men's Health Awareness Month: 12 months of progress into male cancer research at the ICR - The Institute of Cancer Research

Leadership in the genes of guppies – SciTech Europa

Researchers from the University of Exeter have studied leadership in guppies by selectively breeding the fish that differed in how likely they were to lead a scouting party to examine a predator.

The team of researchers created 30 breeding pairs of the males and female most likely to lead, in addition to 30 breeding pairs of the fish that showed the lowest levels of leadership.

After three generations, researchers tested males and female from these lines, researchers found that there were pronounced differences in leadership tendency among the two groups, with descendants of leaders being more likely to lead.

The male fish that were bread for low leadership presented more aggressive and less sociable traits. Alternatively, the male that were bread for high leadership should positive sign of social development with the females not being affected by the experiment.

We wanted to know how much leadership is an inherited characteristic, and whether its linked to other traits, said Sylvia Dimitriadou, of the University of Exeter.

It seems leadership among guppies is partly inherited around a third can be explained by their pedigree, with other factors such as their social and physical environment also key.

Among males, this appears to be linked to other social traits such as lower aggression (measured by whether fish share food or try to push rivals away) and sociability (moving as part of a shoal and switching between shoals).

In females, leadership also passed down the generations, but without observable changes to other aspects of behaviour.

Its not clear why this is. In guppies, female and male cooperative and social behaviour differs, so its possible that certain traits co-evolve or co-develop differently among females and males.

Traits such as boldness and tendency to explore did not diverge between the two breading line, meaning it was only social traits that seemed to differ alongside leadership in males.

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Leadership in the genes of guppies - SciTech Europa

Fissured tongue: Causes and treatment – Medical News Today

A person's tongue is generally flat and free of significant grooves. Fissured tongue causes a person to develop one or more grooves on the top portion of their tongue. Fissured tongue is neither contagious nor painful. However, other conditions, such as geographic tongue or food caught in the groove, can cause pain.

Fissured tongue is a common condition. Approximately 5% of people in the United States have it, and the numbers vary considerably in countries throughout the world. Fissured tongue may appear for no apparent reason, but some people may have an underlying condition that doctor or dentist may need to rule out.

Keep reading to learn more about the causes and treatment for fissured tongue.

Fissured tongue is when one or more grooves appear on the surface of the tongue. These grooves can be shallow or deep. Usually, the primary fissure occurs in the middle of the tongue.

In some cases, the fissures may be large and deep, making the tongue look like it has distinct sections. The tongue may also have a cracked appearance.

A person may also have geographic tongue. Geographic tongue is when patches on the tongue become free of papillae, which are the tiny bumps on the surface of the tongue. When a person has geographic tongue, smooth, red patches, which often have raised borders, replace the papillae. The condition gets its name because the tongue resembles a map.

Learn more about geographic tongue here.

Fissured tongue is most common in older people, although anyone can develop it. Males are also more likely than females to develop fissured tongue.

Doctors are not certain what causes fissured tongue. However, there may be a genetic link that means certain people are more likely to develop it.

One article published in Allied Academics looked at the frequency of fissured tongue in people in South Africa and Israel. In South Africa, only 0.6% of the population had fissured tongue, compared to nearly 30.6% of the people in Israel. Researchers believe that this could be evidence of a genetic factor.

However, the study in South Africa involved children and, therefore, does not reflect the entire population. However, the idea that a genetic component may play a role in fissured tongue development remains a possibility.

Fissured tongue often first appears in childhood. However, the condition typically becomes more pronounced as the person ages.

Fissured tongue may have links to other conditions, including:

Malnutrition may also cause fissured tongue to occur. But this is less common.

A fissured tongue does not typically require treatment. Often, it does not have any symptoms, and a person may not know they have the condition until a dentist discovers it during a routine checkup.

Complications of fissured tongue typically occur if food or other debris get caught in the grooves. If this happens, it can cause irritation or allow bacteria to grow. The bacteria trapped in the fissures can cause bad breath or promote tooth decay.

In extreme cases, Candida albicans may infect very deep grooves. Anyone who develops this complication will require treatment with a topical antifungal medication.

The best prevention against fissured tongue is to practice proper oral hygiene, including cleaning of the mouth at least twice a day and regular visits to the dentist.

In most cases, fissured tongue will not cause any symptoms, so a person may not visit the dentist for this purpose. A person may not visit a dentist unless they are experiencing pain. However, it is a good idea to visit the dentist twice a year for routine care. People should also go to their dentist if they have any oral pain or discomfort that does not go away.

Fissured tongue is not a major cause for concern. It can lead to minor to moderate complications, such as bad breath, tooth decay, or mild infections in rare cases.

A person may develop fissured tongue as a child, but it can become more pronounced as the person ages.

Fissured tongue does not usually cause additional symptoms in most people.

Treatment typically involves routine oral care.

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Fissured tongue: Causes and treatment - Medical News Today

Couple Overcomes Infertility And 50% Chance Of Baby Having Cystic Fibrosis – WFMYNews2.com

WINSTON-SALEM, N.C. Rachel and Zack Cashatt knew they always desired to be parents but were unsure of their odds to conceive and their chances of having a baby without cystic fibrosis (CF).

Zack was diagnosed with the genetic disease which causes severe damage to the lungs, digestive system and other organs at 4 months old.

Meanwhile, Rachel was diagnosed as a carrier of the CF gene at 23.

According to the Cystic Fibrosis Foundation, Ninety-eight percent of males with CF are infertile.

However, those who are just a carrier of the gene, like Rachel, are not at risk of their own health being impacted but are at an increased risk of having a child with CF.

When we decided to start our family planning, we knew we would likely need in vitro fertilization (IVF) assistance and we knew the importance of pregenetic testing to increase the chances of our baby not inheriting CF, Rachel said. We did our research and thats when we learned about Dr. Deaton and his fertility groups success.

Rachel, 29, a middle school science teacher, teaches her students about genetics. She was aware of the challenges that she and her husband could face on their journey to start a family.

Since Rachel is a carrier of the CF gene and Zack has CF, the odds of their baby having cystic fibrosis were significantly increased to 50%, said Jeff Deaton, M.D., director of the Center for Fertility, Endocrine and Menopause at Wake Forest Baptist Health.

Deaton went on to explain that in the Cashatts' case, 41 eggs were extracted from Rachel; 16 of those matured to the next process, then four were suitable for the preimplantation genetic testing (PGT) process which showed that only one of those would not result in CF.

PGT is a procedure used in conjunction with IVF implantation to help identify genetic defects within embryos. This process serves two purposes: to increase the odds of a successful implantation and to prevent certain genetic diseases or disorders from being passed on to the child.

We waited to see if the embryo would take and it did nine months later, Rachel and Zack had a healthy baby boy who does have the CF gene, but will not develop the disease, Deaton said.

The Cashatts' son Oliver was born in March of this year.

Oliver is such a happy baby and most importantly, healthy, Rachel said. We wanted to do everything in our power to ensure he didnt have the same disease as my husband and through this technology and expertise, thats exactly what we received. Sometimes, its still hard to believe.

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Scientists discover "just one drink" is more accurate than they thought – Inverse

Plenty of people drink alcohol in a way that doesnt lead to lasting dependency. But for millions of people, a casual drinking habit can transform into a compulsive one, leaving scientists wondering where people go off the rails and how to stop them.

Detecting signs of an alcohol problem before it actually emerges may help. A new analysis involving binge-drinking male mice could represent the first step in understanding how the spiral starts.

Kay Tye, a neuroscientist at Salk Institute for Biological Studies and lead author of the study, tells Inverse that the very first time certain mice were exposed to alcohol, they showed patterns of brain activity consistent with those that underpin compulsive drinking. Several weeks later, these mice had become binge drinkers.

The neural activity was so different during initial alcohol exposure, when the behavior looked indistinguishable, Tye says. The degree of reduced neural activity in this key circuit could so accurately predict the future development of compulsive behavior, weeks later!

The analysis was published this week in the journal Science.

When scientists search for biological causes of alcohol abuse, they tend to look at genes for clues. There are hundreds of genes associated with alcohol use, but genetics alone cant account for all the reasons that some people develop problems with alcohol and others dont.

In this study, researchers turned instead to the brain. They found that in mice who went on to develop a drinking problem, alcohol triggered different responses in neurons running through a brain circuit stemming from the prefrontal cortex, which plays a role in decision-making, to an area of the brain stem known as the dorsal periaqueductal gray, which is involved in more fundamental brain processes.

When mice that didnt develop an alcohol problem drank for the first time, they saw that this circuit seemed particularly active. But in the mice that did become problem drinkers, the circuits activity was tamped down.

These differences were obvious before the mice started behaving differently around alcohol, says Cody Siciliano, who is assistant professor at Vanderbilt University and a study co-author.

The mice started to change their behavior after one critical experience one that many of us humans experience in our lifetimes, too.

The thing that really produced these individual differences was when we allowed them to have a binge drinking experience, Siciliano tells Inverse.

In the experiment, Tyes team followed genetically identical mice as they experimented with alcohol. This started with one or two drinks here and there. After a period of getting the mice used to these small amounts of alcohol, the researchers let the mice go off the rails, allowing them to drink unlimited amounts of alcohol for two hours straight.

That binge experience proved to be transformative but especially for the mice who had shown lower-than-expected responses to alcohol in the prefrontal cortex-brain stem circuit. These mice didnt have casual relationships with alcohol anymore. Instead, they showed more compulsive drinking than their cage-mates

Little could put the binge-drinking mice off the booze, the researchers found. Mixing the alcohol with quinine to give it a bitter taste or giving the mice foot shocks after they drink did not stop them from compulsive drinking.

The findings suggest that drinking inhibits an aversive signal in the brains of compulsive drinkers. In mice who did not compulsively drink, that aversive signal was associated with steering clear of too much alcohol. But alcohol may also cloud a mouses ability to make a judgement call, the researchers say.

What we think is happening is that in some animals this neural circuit from the prefrontal cortex into the dorsal periaqueductal gray is basically susceptible to the effects of alcohol, Siciliano says. We think that this pathway is important for decision-making in a number of different contexts. It doesnt very well after this binge drinking experience.

A mouse brain is not a human brain, so it could be years before these findings lead to a kind of treatment for alcoholism. But the results are promising, the researchers say.

The same brain circuit may hold clues to treating the problem. To see whether this was the case, the team used optogenetics to alter the binge-drinking mices brain activity to mimic that seen in the non-alcoholic mice.

Activating the circuit appears to decrease drinking activity in the mice in a lasting way, Siciliano says.

If there was a way to do that in humans that could be therapeutically advantageous and have a lasting effect, he says.

Manipulating human brains using the same technique isnt a viable option. But in the future, the team hopes that they might be able to find a target which would allow them to manipulate the neural activity using drugs tackling alcohol addiction before it even starts.

Abstract:

What individual differences in neural activity predict the future escalation of alcohol drinking from casual to compulsive? The neurobiological mechanisms that gate the transition from moderate to compulsive drinking remain poorly understood. We longitudinally tracked the development of compulsive drinking across a binge-drinking experience in male mice. Binge drinking unmasked individual differences, revealing latent traits in alcohol consumption and compulsive drinking despite equal prior exposure to alcohol. Distinct neural activity signatures of cortical neurons projecting to the brainstem before binge drinking predicted the ultimate emergence of compulsivity. Mimicry of activity patterns that predicted drinking phenotypes was sufficient to bidirectionally modulate drinking. Our results provide a mechanistic explanation for individual variance in vulnerability to compulsive alcohol drinking.

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Scientists discover "just one drink" is more accurate than they thought - Inverse

Changes in animal communication – NDSU The Spectrum

Examining the ways in which animals communicate

Sex in the animal kingdom is serious business as Robin M. Tinghitella, an assistant professor in the Department of Biological Sciences at the University of Denver, presented her research on how animals communicate the urge to reproduce on Nov. 15.

Tinghitellas presentation also described how animals, specifically crickets and three-spined stickleback fish, communicate with one another within changing environments .

To start, Tinghitella discussed how evolution was initially thought to have been a historical process that takes place over long periods of time.

She then explained that within the last 20 to 30 years, it was discovered that evolution can happen on contemporary time scales, meaning it can happen within a few months or years.

The causes of rapid evolution include invasions of new habitats, the rise and fall of natural enemies, competitors and resources, along with anthropogenic change which results from human actions and pressure.

Tinghitella explained that in her lab the main focus is on how the conditions of rapid evolution can impact the communication between animals in relation to mating calls.

That means that we studied sexual signals, things like frog calls and bird plumage, that are typically used by males to attack and convince females to mate with them, Tinghitella said.

Another area Tinghitellas lab focuses on is sexual selection within the environment. Almost all organisms now live in environments that are impacted to some degree by humans whether thats habitat loss and fragmentation, introducing new species, harvesting, pollution or climate change.

All of these things have in common is that they change the environment in which males and females are communicating.

Tinghitella went on to explain that when environments change rapidly, successful mating is affected by the new environmental change and local population extinction. This is just because not having offspring is the genetic equivalent of death.

When faced with environmental changes, Tinghitella explained that organisms can leave that area or stay and adapt to the new environment through rapid evolutionary responses.

Tinghitella then discussed how the outcomes of her studies varied from what was originally thought to have happened. One of the things that I find really intriguing about my treats of choice is the incredible variation that we find not only among populations of species but also within populations of species.

After discussing rapid evolution, Tinghitella described the organisms her lab studied starting with crickets and their mating call.

Male crickets use calling songs to attack females by using their wings which creates pulses of sounds.

For the last 15 years, Tinghitella has been studying the sexual signaling of a coastal species of crickets in the Kalaupapa National Park in Hawaii. Tinghitella chose this location to see how the environment would affect how the crickets acted since it was a quieter area.

During her work, she looked at a parasitoid fly that is attracted to the sexual signaling of these crickets saying, When males call to attract females, they also risk attracting this parasitoid fly.

When the female fly finds the male cricket, they will spray larvae onto the male which will then burrow themselves into the body of the cricket, eventually killing him.

Tinghitella then described an adapted cricket called the silent winged cricket which doesnt produce any sound, meaning they are protected from the parasitoid fly. It was found that the mutation to these crickets spread throughout the island in fewer than 20 generations.

On her trip, Tinghitella found a colony of crickets in one location on the park to examine. After catching the native crickets thinking they would be silent, Tinghitella realized that those particular crickets made a purring noise.

Tinghitella went on to describe the importance of their findings saying, Sexual signals are frequently the only or the most divergent trait between closely related species and that strongly implicates sexual selection.

When signals change, we can quickly get reproductive isolation if preferences change instead.

Tinghitella explained that the evolution of a new sexual signal has only been studied once before in jewel wasps.

On the topic of mating, Tinghitella and her team found that female crickets were attracted to the purring crickets over the silent male crickets as she said that it could be possible that in Kalaupapa, the crickets have become adapted to the purring song.

Tinghitella then discussed the three-spined stickleback fish and the experiments her lab conducted to how female sticklebacks pick a mate.

Within their research, Tinghitella and her lab looked into the offspring of three-spined sticklebacks in regards to their parental relationships and whether that affects who they choose to mate with.

Within the experiment, either the mother, father, both or neither were exposed to a predator to see if they shared the information with their offspring and if it changed the mating decisions of their daughters when they grew up.

Once the offspring were fully grown, Tinghitella and her team found that when the parents were exposed to a predator, it affected the daughters behavior, preferences and the males they chose to mate with.

Tinghitella first explained that female sticklebacks typically prefer males with a bright red throat with contrasting blue eyes since it usually indicates that the male is in good condition, is parasite resistant, is able to defend the nest and is successful when mating.

The results found that daughters who had one parent exposed to a predator were attracted to male sticklebacks with duller colors while daughters with both parents exposed to predators were typically attracted to the bright red throat and blue eyes that a typical female stickleback would be attracted to.

One of the things that I find really intriguing about my treats of choice is the incredible variation that we find not only among populations of species, but also within populations of species

This leads us to think a lot about this idea that parental effects on mating could facilitate reproduction in changing environments, but we shouldnt actually assume that parental effects are going to be adapted.

To end her presentation, Tinghitella emphasized how rapid evolution can give us an idea of how animals can respond to rapidly changing environments while studying, [The] persistence, formation and collapse of boundaries between species.

More here:
Changes in animal communication - NDSU The Spectrum

What’s being done to close the research gap when it comes to men’s and women’s cardiac health – The Loop

The information provided on the show is for general information purposes only. If you have a health problem, medical emergency, or a general health question, you should contact a physician or other qualified health care provider for consultation, diagnosis and/or treatment. Under no circumstances should you attempt self-diagnosis or treatment based on anything you have seen on the show.

For the past few days,Your Morning has been looking at the effects of heart disease and stroke, and the differences between men and women. According to the Heart and Stroke Foundation, women who have had a stroke have outcomes worse than those of men. Staff cardiologist at Mackenzie Health and spokesperson for Canadas Heart and Stroke Foundation Dr. Sherryn Rambihar stopped by to share that, when it comes to heart disease and stroke, women continue to be under-researched, under-diagnosed, under-treated, under-supported and under-aware of the risks. The research gap means we lack critical information about the impact of differences between womens and mens hearts and brains.

See below for some of important information of womens cardiovascular health, and be sure to click on the video above for even more vital facts from Dr. Rambihar.

Mitral valve regurgitation is the most common form of valvular heart disease in North America. Left untreated, it can result in heart failure and increased mortality rates. While women are more likely to have significant mitral regurgitation, they are less likely to receive surgery than men, and when they do receive surgery, they have worse outcomes. The aims of the research are to explore sex differences in current recommended echocardiographic triggers for surgery in the management of chronic mitral regurgitation; to examine sex differences in cardiac remodeling before and after intervention and their implications on management; and to study the impact of the hemodynamic stress of pregnancy on cardiac remodeling and outcomes. This research will also consider the impact of pregnancy on mitral valve regurgitation.

Spontaneous coronary artery dissection (SCAD) is the suspected cause of heart attacks in 25% to 40% of young women, in which the inner layers of an artery separate, resulting in impaired blood flow to the heart. SCAD often strikes young women who do not have the standard heart disease risk factors. Those who have had SCAD are also more likely to experience it again. Patients with diseases that weaken blood vessels walls are at higher risk for SCAD and many of these diseases are inherited. As the genetics behind SCAD have not been fully examined, this research will determine if SCAD is a genetic condition and what its genetic markers may be. The largest of its kind, this study will draw on subjects of the Canadian SCAD Study. DNA analysis will be conducted on samples from SCAD patients who have had heart attacks. In addition to looking for common genes linked to SCAD, the team will administer more specific testing on a subset of higher risk patients to uncover rare genetic markers.

The main objective of this research is to measure how a womans health during her pregnancies affects her later risk of cardiovascular disease. This research will use a hospital admissions data base to identify a group of women who were ever pregnant and follow their data over time for any hospitalizations for cardiovascular disease. The researchers will look for pregnancy related outcomes including disorders of the placenta, birth defects in infants as well as postpartum depression, and use this information to calculate how cardiovascular disease risk changes based on a womans health during her pregnancy, delivery, and postpartum period. By exploring the understudied area of the connection of reproductive outcomes to heart disease and stroke, this research has the potential to identify a greater number of women that are at increased risk of later cardiovascular disease.

Heart and Strokeis, too, working to close the research gap between men and women. If you want to learn more and lend your support to their Womens Campaign, join the #RedList here.

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What's being done to close the research gap when it comes to men's and women's cardiac health - The Loop

Why this orthopaedic surgeon insists women should ‘sit like a man’ – Sydney Morning Herald

This is a societal expectation that goes back centuries. "Historically speaking, the first mention of how women should be seated was in the 1300s," says Myka Meier, the founder of Beaumont Etiquette, an education consultancy specialising in social graces and corporate protocol. According to antique etiquette manuals, women of that era were coached to keep their knees pressed together to signal virginity.

Observe men: They're usually sitting with their legs slightly apart and pressed slightly outward.

The symbolic gesture persisted through the Victorian era before slightly abating during the Jazz Age, when hemlines were raised and legs were liberated from the oppression of heavy skirts. Pants came into fashion among women for practical reasons during World War II, but the backlash to women's work in the 1950s marked the return of so-called traditional values and feminine silhouettes.

Even when hemlines began to rise in the Swinging Sixties, the idea that a respectable woman sat with her knees pressed together stuck. Crossed legs and ankles remain a social expectation and postural norm today.

"There are definitely anatomical features that are more common in women and cause women to be more at risk for certain musculoskeletal problems," says Chisa Hidaka, a physician who trained in orthopaedic surgery and has taught applied anatomy of human movement in the dance school at Barnard College for more than a decade.

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"It's helpful to say, 'What are the social and cultural things that could be causing that?' because something that's a cultural or social influence could be classified as a modifiable risk factor."

This is Bergin's goal: To make women realise that sitting habits can be a risk factor for musculoskeletal problems, and that they may be able to avoid particular aches, pains and conditions by refusing to sit with their legs pressed together, crossed or otherwise anatomically scrunched. (Note: Sitting with crunched legs does not cause varicose veins; "that's more of a genetic predisposition," Bergin says).

"Observe men: They're usually sitting with their legs slightly apart and pressed slightly outward," Bergin says. Be mindful of inward rotation. Let the outer thigh relax. When you stand up, don't let your knees collapse inward it puts pressure on the joints in a way that can contribute to wear and tear over time. Don't overcompensate, either. "A lot of my patients will say: Oh, you want me to 'manspread'. That's too far the other way," Bergin said. "We want [your legs at] about 11 and 1 o'clock."

Charla Fischer, an orthopaedic surgeon at New York University's Langone Spine Centre, notes that particular postures among women can also be problematic when they're on their feet.

"The way men stand is with equal weight on both legs, so there's no hip curvature," she says. "The way women often stand, with their weight on one side and one foot forward, [can] put undue stress on both the leg you're standing on and also the leg you're not standing on because it's working really hard to hold the pelvis up."

A lot of my patients will say: Oh, you want me to 'manspread'. That's too far the other way. We want [your legs at] about 11 and 1 o'clock.

Bergin adds that high heels are another gender-specific culprit of musculoskeletal problems. "If you see 100 people with painful bunions or hammer toes, 95 of them are women, and it's from jamming [their toes] down into tight, pointy shoes," she adds, lamenting the fact that heels are still a staple of professional corporate dress codes. "We are definitely better off not wearing heels or wearing them as little as possible."

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Meier, the etiquette expert, teaches gender-neutral practices across the board. For example, she tells male students to say "Please, after you" rather than "Ladies first." In terms of posture, she advises sitting positions that are focused on maintaining good posture, no crossed knees need apply.

"When you take one leg and cross it over, you naturally start to lean back and you lose that power pose," Meier says. "There are still a lot of thought processes out there that say 'Ladies should sit this way because they are ladies'." But she sees more than a danger of physical aches and pains. By sitting with crossed legs, "I think we're putting ourselves back in a position we fought so hard to get out of."

The Washington Post

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Why this orthopaedic surgeon insists women should 'sit like a man' - Sydney Morning Herald

Battle of the sexes – Australian Antarctic Division

20th November 2019

A new molecular test will allow scientists to identify the sex of juvenile and sexually regressed Antarctic krill, for the first time.

The test, developed by Dr Leonie Suter and her colleagues at the Australian Antarctic Division and the University of Padova in Italy, will provide insights into some of the unusual features of krill reproductive biology.

It will also help researchers identify the gender distribution within swarms.

The ratio between males and females in krill swarms is often very uneven, Dr Suter said.

On a recent voyage, we found one krill swarm contained only seven per cent females, while another was made up of 82 per cent females.

This gender bias could affect the reproductive capacity of the swarm, or the behaviour of the swarm, as males surrounded by males might act differently to when theyre surrounded by females, and vice versa.

We dont know how widespread this biased sex ratio is or what causes it, and determining whether there is a pattern to the distribution of these swarms could improve conservation measures and fisheries models.

But theres a catch. To identify the sex of krill, tell-tale physical characteristics have to be examined under the microscope, but these are only present in sub-adult and adult krill.

Larval and juvenile krill lack these characteristics, and over winter when food is limited, adult krill can shrink in size and revert or regress to a form without external sexual structures.

While finding a gene responsible for male or femaleness would be ideal, the krill genome is complex and 15 times larger than the human genome, so only a small amount of the DNA has been sequenced.

However the presence of genes related to sexual development can be identified using RNA (ribonucleic acid), which is produced from DNA when genes are actively expressed.

So Dr Suter examined the RNA in krill testes and ovaries to identify genes expressed in these tissues.

There were extensive gene expression differences between ovary and testis tissue, meaning that although the same genes are present in males and females, many are activated or expressed in a sex-specific way in their gonads, she said.

She then looked to see which of these differentially expressed genes were present in either whole female or whole male krill.

We found three genes that were only expressed in females and that these could reliably determine the sex of juvenile, sub-adult, adult and sexually regressed krill, but not larval krill, she said.

Using these genes weve been able to develop a molecular test for unambiguous sex determination of krill lacking external sexual characteristics, for the first time.

This will contribute to our understanding of krill population dynamics, genetic diversity and reproductive behaviour.

When it comes to sex, even amongst krill, its complicated.

More information:

Sex identification from distinctive gene expression patterns in Antarctic krill (Euphausia superba). Polar Biology 2019.

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Battle of the sexes - Australian Antarctic Division

Sex in the city: when dad’s not dad – The Naked Scientists

If you think you know who your relatives are, you might want to think again. Because, according to a new study, about one in every hundred of us doesnt have the dad with think we do. This is called extra-pair paternity - its where a man ends up bringing up another mans child - and city living, as well as lower socioeconomic status, make it more likely to happen.Researchers at Leuven University, in Belgium, discovered this by tracking down 513 pairs of men who, according to parish records, shared a male ancestor up to 500 years ago in their family trees. Because men inherit their Y chromosomes exclusively from their fathers, if thered been no naughtiness in their family trees, the genetic barcodes of the Y chromosomes of each of the pairs of men should match. But, in some cases, they didnt, with the obvious implications! And by using additional genetic techniques, they were able to work out when in the family history the assignation must have happened. Speaking with Amalia Thomas, Maarten Larmuseau...

Maarten - For the first time we reconstructed the historical patterns of extra pair paternity across the last centuries within our Western populations. What is 'extra pair paternity'. Well it is an event when a man was unexpectedly not the biological father of his legal child. What we found was that the 'extra pair paternity' rates were lower overall around 1 percent, but depending on social context we find that the highest 'extra pair paternity' rates were observed among urban families with low socio economic status, especially in the 19th century.

Amalia -And how did you find out that these women had been cheating on their husbands?

Maarten - But it's not only cheating. It can also be the result of sexual aggression'. Extra pair paternity' has potential different causes. So what we did was find persons who are living today with a common paternal ancestor in direct paternal line; if they have the same Y chromosomes - Y chromosomes are the chromosomes that each male get from his father - in a paternal line, every man should have the same Y chromosome, or variants. If that is not the case then at least one 'extra pair paternity' event happens across the generation.

Amalia -So you studied the genes of over 500 pairs of donors who are alive today and compare that to the family records dating back up to 500 years. How can you be so sure that records that are so old are accurate?

Maarten - We are quite sure about those genealogies, based on civil records and parish records. If we didn't find a biological connection between presumed related persons then we know that there is at least one 'extra pair of paternity In the past.

Amalia - What have you found out from this comparison?

Maarten -Well that the 'extra pair paternity' rate is quite low in average. It's always around 1 percent. But what we saw now is that there were quite differences between socioeconomic classes, especially the low social classes in the 19th Century, they had a 10 fold higher exit per paternity rate than formers in rural areas and this is quite surprising. We didn't expect this! We expected more in aristocratic families, especially because there is a lot of references to adultery in the 17th century in literature and theatre plays. So this looks like based on our results that it's not the case.

Amalia -Could you guess if you don't know exactly, why it's the socioeconomic status population, density and particularly the 19th century where this happened the most?

Maarten - Well we don't have a real explanation because we cannot interview older people any more and say what is the reason. Is it because of adultery is it because of sexual aggression and rape? We cannot ask them again. But what we see is that in the 19th Century there was a lot of social conflict, low social classes lived in very poor conditions. We also had a lot of cholera epidemics, especially in Belgium and the Netherlands where we looked. After the Industrial Revolution there weren't that good conditions and there were much higher differences between the social classes. So after all it was not so surprising that we could see differences.

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Sex in the city: when dad's not dad - The Naked Scientists

A Rare Genetic Disorder The Blood ‘ Milky ‘ White of these Siblings – X Herald

Three kin all conveyed two duplicates of a changed quality, which made their blood run white with fat.

An uncommon hereditary issue made three kins blood flood with fat

also, turn smooth white, as per another report of the strange case.

The three kin comprised of one lot of congenial twins (a little girl and child) and a more established child, all destined to a first-cousin couple in a Pennsylvania Dutch family. In their teenagers and mid 20s, each of the three kin experienced baffling side effects, including episodes of stomach torment. They had all been determined to have hypertriglyceridemia, a genuinely normal issue that causes greasy particles rang triglycerides to work in the blood

.

Presently in their 50s, the kin as of late experienced hereditary testing and discovered that they have a condition that is substantially more uncommon, influencing just 1 in each million individuals, as per the case report, distributed today (Nov. 18) in the diary Annals of Internal Medicine

.

Those with the ultrarare issue, known as familial chylomicronemia disorder (FCS), may collect in excess of 1,000 milligrams of triglycerides for each deciliter (mg/dL) of blood. For correlation, ordinary blood levels of the fat should fall underneath 150 mg/dL, and 500 mg/dL would be considered exceptionally high in a solid individual, as per the National Institutes of Health

.

Undoubtedly, in individuals with FCS, blood fat levels are high to such an extent that the typically dark red liquid turns the shade of milk. (FCS isnt the main condition that can cause milk-hued blood; the side effect may likewise show up in individuals with serious hypertriglyceridemia.)

Related: The Color of Blood: Here Are Natures Reddest Reds (Photos)

The three kin had since a long time ago battled to monitor their triglyceride levels and endured visit irritation of the pancreas, otherwise called pancreatitis a genuine condition that can cause stomach torment, fever and retching. At the clinic, the male twins triglyceride levels came to as high as 5,000 mg/dL, while the other siblings levels topped at around 6,000 mg/dL. The female twins triglyceride levels took off most noteworthy of all, arriving at 7,200 mg/dL at greatest.

The kin trusted their primary care physicians could help repress those forceful indications.

To affirm the kins uncommon finding, the specialists looked to their patients qualities. Triglycerides ordinarily develop in the blood because of various breaking down qualities and other related wellbeing conditions, for example, diabetes or hypertension, as indicated by the Journal of the American Board of Family Medicine

. However, when specialists examined the kins hereditary code, the scientists spotted just one transformed quality that was key for separating triglycerides in the body.

In solid individuals, the gene contains guidelines to construct a protein called lipoprotein lipase (LPL), which ordinarily covers the veins that go through muscles and greasy tissues in the body, as indicated by the Genetics Home Reference

. LPL separates fats conveyed in the blood; without a sufficient inventory, the kins blood plasma ran thick with abundance triglycerides.

Related: How to Speak Genetics: A Glossary

Every kin conveyed two duplicates of the changed LPL quality, which means both their folks went down the transformed hereditary code

to the kids, the case report noted. In addition, the specific hereditary transformation in the kin had never been seen, the creators said. The specialists set the kin on a fat-confined eating regimen

, which effectively balanced out their triglyceride levels and subdued their episodes of pancreatitis. Some of the time, when triglyceride levels spike, specialists should physically supplant the fat-filled blood of their patients with solid blood from benefactors, Live Science recently revealed

. Fortunately, the kins condition could be curtained with diet

alone.

Initially distributed on Live Science

.Need more science? Get a membership of our sister production How It Works magazine, for the most recent stunning science news.

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A Rare Genetic Disorder The Blood ' Milky ' White of these Siblings - X Herald

A Weird Battle of the Sexes is Happening Between Weed and Hemp – Weedmaps News

Outdoor marijuana growers are reporting an increase in cross-pollination from hemp farms, a development that could mean marijuana cultivators might lose upwards of tens of thousands of dollars if their plants become unmarketable as flower products.

As the marijuana and hemp industries increasingly share the same cultivation territory, the number of conflicts is likely to increase, particularly in areas with thriving outdoor cannabis cultivation.

Washington state is a case in point. In April, Gov. Jay Inslee signed Senate Bill 5276 into law, opening the state up to hemp production in response to the 2018 Farm Bill in part by removing the previous 4-mile buffer between outdoor marijuana grows and hemp farms.

At least one marijuana farmer has experienced firsthand the consequences of this change in the law.

We took a big hit, said Robert Morf, who owns and operates Cheshire Creek, an outdoor marijuana cultivation operation in Waterville, Washington.

He estimated he will lose about $40,000 this year after his midsized, 600-plant farm was cross-pollinated by pollen from the male plants he said came from a neighboring hemp grower.

According to Morf, his flower is full of seeds, reducing the usable volume and overall quality and value of the crop. He won't be able to sell it on the wholesale or retail flower market and will take a financial hit by selling it all for extraction.

Morf has grown marijuana for three years out in the middle of nowhere with no other cannabis cultivators for 30 miles. He didn't have any trouble with his neighbors until the buffer was removed under the new hemp law.

The hemp grower who leased the land from the farmers across the road assured Morf the plants would be grown from clones. Since Morf was there first with his marijuana operation, it was up to him to give the OK, and he took it on faith the hemp growers would remove the male plants. He thought cross-pollination would have been worse for them than it would have been for me.

Morf contacted his local and state political representatives as well as his contact at the Washington State Liquor and Cannabis Board (LCB), but he found no recourse.

To prove it wasn't his own plants that pollinated his field, Morf pointed out that the LCB's tracking system will show that he planted from female clones.

We've gone through three years of growing, and the most I've seen is a female plant with one bud herming off a stem last year, he added.

Herming refers to a cannabis plant developing both male and female flowers.

Morf has considered suing, but he figures it's not worth the cost.

At this point, it's 'screw it' and move on, he added.

The hemp growers have left the plants cut down in the field and won't be returning next year to farm that land, Morf told Marijuana Business Daily.

A similar problem is shaping up in the bordering state to the south, Oregon.

Pete Gendron, a grower in Sunny Valley and president of the Oregon SunGrowers Guild, estimated the cross-pollination issue is impacting about 8% of the state's marijuana production.

In terms of total acreage affected by cross-pollination, it's an increase from last year, he added.

That's largely because the number of hemp acres has increased by about 500%.

According to Hemp Industry Daily, Oregon had 11,754 acres in 2018 and increased to 51,313 acres in 2019.

His advice to growers looking to avoid male plants showing up in their fields: Buy your seed from a reputable provider and try to make sure your hemp-growing neighbors are using feminized seeds.

Tell them, if you pollinate me, you're going to be pollinating yourself, too, Gendron said.

That being said, it won't save you from field walking, he added, meaning growers still need to check to ensure their plants haven't hermed or that no male plants have grown from seed.

It really only takes one (male plant) to ruin your day, he said.

In Pueblo, Colorado, the area of the state with the largest amount of outdoor-grown marijuana, the county regulators have been working to allow both hemp and cannabis cultivators to coexist.

Steven Turetsky, managing director of Pueblo-based hemp grower Shi Farms, said hemp farmers have been asked to put their best effort forward to not grow male plants.

That's in part because outdoor-grown marijuana has been a shot in the arm to the local economy. The general sentiment is that hemp growers should all use clones to ensure the plants are females.

Obviously, with cannabis, even if you plant from clones, there can be mutation, Turetsky said. But it significantly decreases the risk.

He said he came to the realization that it's beneficial for his company to act in good faith toward marijuana growers. By also only using clones, his company has avoided dealing with vendors who might be selling nonfeminized seeds. We don't want seeds, either, he said.

According to Wendy Mosher, president and chief executive officer of Fort Collins, Colorado-based seed company New West Genetics, a grower will lose about 1% of total cannabinoid content if a field is cross-pollinated.

While Colorado is considered generally favorable to hemp compared to other states with marijuana programs, cross-pollination also is happening to hemp-based CBD farms in Colorado, she added.

When a hemp farm is cross-pollinated, the farmer can thresh the crop to try to salvage some of it. Mosher said one male in a field a mile away can pollinate a crop, and it can be very difficult to determine the source.

It's just impossible to tell where it's coming from, she added.

The U.S. Department of Agriculture (USDA) acknowledges the cross-pollination issue and has set aside money to address it.

In October, the agency awarded $500,000 to a Virginia Tech research team to get better data on pollen drift.

The goal is to predict how and where pollen grains travel.

Researchers will use drones to track pollen, hoping results can inform regulations on how far growers should keep hemp and marijuana apart to prevent damaging cross-pollination.

Having a validated and reliable long-distance transport prediction model for wind-dispersed pollen is critical to establishing appropriate isolation distances, plant sciences professor David Schmale said in a Virginia Tech statement announcing the grant.

Bart Schaneman

Feature image from Shutterstock

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A Weird Battle of the Sexes is Happening Between Weed and Hemp - Weedmaps News

Male Infertility: From diagnosis to treatment – ETHealthworld.com

By Dr. Ajay Murdia

Male infertility is a term that most of you must have heard. It can be defined as the inability of a man to reproduce and with changing times and lifestyle problems is becoming more and more common. There are more than 15% men in India that are suffering from the problem of male infertility and with every passing day things are only getting worse as far as male infertility are concerned. So, the need of the hour is to be concerned about the problem and make sure that it can be minimized.

There are so many causes that contribute to infertility and you need to be aware of them if you are to prevent male infertility. Excessive hand-job is one of the major reasons that can hurt you in the later stage, so you need to be aware about the problem in your teens. The second reason may be any kind of genetic problem which might have seen your father struggling to reproduce, so if there is any kind of history, you need to be aware about that. If you have had any kind of injury in the past on the reproductive organs, then this also might be an issue behind your infertility problems.

For treatment for male infertility, following methods are adopted:The first things that you need to keep an eye on are the symptoms of male infertility and there are so many symptoms that are visible to you. Here are some of the common symptoms of the problem that you need to be aware about and get to doctor if they are over the line:

In addition to the semen analysis, sometimes only general body examination is enough. The procedures like scrotal ultrasound, hormonal testing, post urinal analysis, testicular biopsy and special diagnosis of sperm is also done to find out the problem.Treatment options:Thankfully for you, the solution to this problem is available and if you go to the doctors at an early stage, it can be treated with general treatments only. But if it has become severe, IVF and other procedures may need to be adopted. For treatment for male infertility, following methods are adopted:

Originally posted here:
Male Infertility: From diagnosis to treatment - ETHealthworld.com

Rename Breast-Cancer Syndrome to Help Save Lives – UroToday

People of all sexes can have risk genes that are often assumed to affect only women. A new name could aid cancer prevention and treatment, argues Colin C. Pritchard. I recently had a conversation with my parents about genetic testing for cancer risk. You mean men also have the BRCA genes? asked my dad. I thought those were the breast-cancer genes, chimed in my mom.

My parents are far from alone in not realizing that people of all sexes (including transgender people) can have mutations in BRCA1 and BRCA2 genes. These genes do encode the proteins associated with susceptibility to breast cancer. But they are also associated with an increased risk of prostate and pancreatic cancer, among others.

Because this is not widely understood, testing is not being done for the right people at the right time. Those who identify as men are especially less likely to be tested.1 And people who are tested can have difficulty understanding the full meaning of their results regarding both their own cancer risk, and the risks to their family members.

In the past year, I was involved in the care of a man with late-stage prostate cancer. He knew that his sister carried a BRCA2 mutation, but he had not been tested for it because none of his medical practitioners had recommended the test. Hed been unable to walk because of cancer-related pain, and was considering hospice care when a new oncologist suggested a genetic test. Finding out that he carried the BRCA2 mutation allowed him to start a more effective cancer treatment, and in weeks he was able to play golf. Whats more, the man had two daughters who thought they werent at risk for the BRCA2 mutation because it was on their fathers side. Both were tested and used the results to take preventive measures that substantially reduce their chances of developing breast and ovarian cancer.

In my view, part of the confusion stems from the fact that people with mutations in BRCA1 or BRCA2 are said to have hereditary breast and ovarian cancer syndrome, or HBOC. This term is not only misleading, it is also cumbersome and hard to remember. Fortunately, there is a simple solution: rename the syndrome.

Whats in a name?Depending on the population, between 1 in 40 and 1 in 400 people carry a mutation in BRCA1 or BRCA2. As such, I estimate that this confusion could be affecting thousands of people with cancer, and their families.

All sexes have the same rate of BRCA1 or BRCA2 mutation; all are equally likely to pass these mutations to their children. Yet a study last year found that, in the United States, over ten times more women were tested for these mutations than were men1 (see Missed tests); rates of testing for genes associated with colon-cancer risk were equal. Other studies have shown that men who have been tested for BRCA1 or BRCA2 mutations and diagnosed with HBOC are often uncertain about their risks of developing cancer, and sometimes keep the information from their families for fear of stigmatization.2,3

As is the case for many terms in medicine, the precise origin of HBOC is difficult to pin down. It first appeared in the scientific literature in the early 1990s, around the time when the BRCA1 gene was identified. In previous decades, people had described hereditary breast cancer and hereditary ovarian cancer as distinct entities, on the basis that such cancers cluster in families. The discovery of BRCA1, and then of BRCA2, allowed clinicians to link HBOC with a specific genetic cause. But at that time, the full spectrum of cancers associated with these two genes was not known.

I propose that HBOC be renamed King syndrome. This is easy to remember. It doesnt imply that the condition affects only one sex, or that people with BRCA1 or BRCA2 mutations will develop only certain types of cancer. And it would recognize the seminal contributions of pioneering cancer geneticist Mary-Claire King, the discoverer of BRCA1 (see Cancer-genetics pioneer).

In the mid-1970s, Mary-Claire King (pictured) was the first to recognize that hereditary breast and ovarian cancer could be accounted for by a single gene; in 1990, she and her group at the University of California, Berkeley, identified the location of the BRCA1 gene.13,14Now at the University of Washington, Seattle, King is recognized15 as a founder of cancer genetics and a long-term advocate for BRCA1 and BRCA2 testing.

Hundreds of thousands of people have been tested for mutations in these genes, and many lives have been saved through cancer prevention. Yet, with an estimated 19 million mutation carriers worldwide at least, we have only scratched the surface.

Instant impactChanging HBOC to King syndrome could have immediate benefits for health-care providers and for all patients.

Flexibility. Removing the sex and cancer specificity from the name would allow more flexibility as scientific knowledge evolves.

People with mutations in genes other than BRCA1 and BRCA2 can have a syndrome that is similar to HBOC. In fact, some investigators have suggested renaming the gene PALB2 as BRCA3. (PALB2 encodes a protein that is involved in the same DNA-repair pathway as the BRCA2 protein, and mutations in both have similar effects.4) In short, the term King syndrome would enable researchers to link other genes to the syndrome more easily as scientific understanding advances.

Communication. Changing the name would also make it easier for people to appreciate that the syndrome occurs in all sexes, can be passed through the male lineage, and can be linked to genes that are not specifically named for breast or ovarian cancer.

Take prostate cancer. The latest US clinical guidelines recommend that people with the most advanced form of prostate cancer are tested for BRCA1 and BRCA2 mutations. This stems from the discovery that a high proportion of people with prostate cancer that has spread to other areas (metastatic) carry mutations in these genes, as well as in other related DNA-repair genes conventionally associated with breast and ovarian cancer. The recommendation also arises from the finding that the presence of such mutations has an impact on the effectiveness of treatments.58

Yet it is only recently that guidelines on prostate cancer were updated to recommend BRCA1 and BRCA2 testing. Before 2017, health-care providers in the United States would have found recommendations seemingly focused on breast and ovarian cancer. Specifically, the information could be found only in guidelines titled Genetic/Familial High-Risk Assessment: Breast and Ovarian.9

In good companyThere is precedent for renaming a cancer-risk syndrome after a leading scientist for clarity.

For several years, health-care providers and others referred to people with mutations in any of four genes involved in a certain type of DNA-repair mechanism as having hereditary non-polyposis colorectal cancer syndrome, or HNPCC. But over the past ten years, specialists have returned to the original terminology: Lynch syndrome. (US physician Henry Lynch, who died last month, did much of the pioneering work in the 1960s and 1970s to identify the familial syndrome.10)

As with HBOC, clinicians and others found the name HNPCC misleading, because it did not accurately reflect the types of cancer to which it has been linked. People with Lynch syndrome are more likely to get colorectal cancer, but can also develop cancer of the endometrium (which begins in the uterus), stomach and ovaries, as well as some forms of bladder cancer, among many others. These individuals are also at risk of developing pre-cancerous lesions in the colon (colorectal polyps), making the non-polyposis part of the old name especially misleading.

Some might disagree that King syndrome is the best choice for a new name, because it doesnt describe the syndrome. They might instead favour something like homologous recombination DNA repair deficiency syndrome. But such a name would again be hard to remember for providers and patients.

Others might worry that testing rates among cisgender women (whose gender is the same as their birth sex) could decrease under the new name (especially given the male connotations of the word king), and that related health care could suffer. I acknowledge the potential downsides, but think that these would be outweighed by improvements in care that could follow. The name could help people to understand that their cancer risk is not limited to breast and ovarian cancer. It might also help them to better communicate the risks to their family members, or to a new health-care provider, and so increase the chance that testing is done.

Renaming HBOC could even spark a wider discussion around confusing names for cancer genetic syndromes. Hereditary diffuse gastric cancer syndrome, for instance, is caused chiefly by inherited mutations in CDH1, which encodes a protein that helps to establish and maintain the shape of epithelial cells, such as those found in the gut lining. People with these mutations are much more likely than the general population to develop a certain type of breast cancer,11 and the children of families with this syndrome are at risk of having some types of congenital malformation, such as a cleft lip.12

Ultimately, using names that are simple and flexible, instead of obtuse and out of step with emerging understanding, could save lives by improving communication and awareness.

Written by: Colin C. Pritchard, Associate Professor, Department of Laboratory Medicine, University of Washington and Head of Precision Diagnostics, Brotman Baty Institute for Precision Medicine, Seattle, Washington

References:1. Childers, K. K., Maggard-Gibbons, M., Macinko, J. & Childers, C. P. JAMA Oncol. 4, 876879 (2018).2. Rauscher, E. A., Dean, M. & Campbell-Salome, G. M. J. Genet. Couns. 27, 14171427 (2018).3. Strmsvik, N., Rheim, M., yen, N., Engebretsen, L. F. & Gjengedal, E. J. Genet. Couns. 19, 360370 (2010).4. Antoniou, A. C. et al. N. Engl. J. Med. 371, 497506 (2014).5. Castro, E. et al. J. Clin. Oncol. 31, 17481757 (2013).6. Mateo, J. et al. N. Engl. J. Med. 373, 16971708 (2015).7. Na, R. et al. Eur. Urol. 71, 740747 (2017).8. Pritchard, C. C. et al. N. Engl. J. Med. 375, 443453 (2016).9. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 2.2019 (2019).10. Lynch, H. T., Snyder, C. L., Shaw, T. G., Heinen, C. D. & Hitchins, M. P. Nature Rev. Cancer 15, 181194 (2015).11. Hansford, S. et al. JAMA Oncol. 1, 2332 (2015).12. Figueiredo, J. et al. J. Med. Genet. 56, 199208 (2019).13. Hall, J. M. et al. Science 250, 16841689 (1990).14. King, M. C. Science 343, 14621465 (2014).15. King, M. C., Levy-Lahad, E. & Lahad, A. J. Am. Med. Assoc. 312, 10911092 (2014).

Nature. 2019 July 4; vol 571, 27-29 doi: 10.1038/d41586-019-02015-7.

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Rename Breast-Cancer Syndrome to Help Save Lives - UroToday

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