Connect with us


Science seeking Alzheimer’s clues from few who escape genetic fate



Doug Whitney inherited the same gene mutation that gave Alzheimer’s disease to his mother, brother and generations of other relatives by the unusually young age of 50.

Yet he’s a healthy 73, his mind still sharp. Somehow, the Washington man escaped his genetic fate.

So did a woman in Colombia who dodged her own family’s similar Alzheimer’s destiny for nearly three decades.

To scientists, these rare “escapees” didn’t just get lucky. They offer an unprecedented opportunity to learn how the body may naturally resist Alzheimer’s.


“It’s unique individuals oftentimes that really provide us with breakthroughs,” said Dr. Eric McDade of Washington University in St. Louis, where Whitney’s DNA is being scoured for answers.

The hope: If researchers could uncover and mimic whatever protects these escapees, they might develop better treatments — even preventive therapies — not only for families plagued by inherited Alzheimer’s but for everyone.

“We are just learning about this approach to the disease,” said neuropsychologist Yakeel Quiroz of Massachusetts General Hospital, who helped study the Colombian woman. “One person can actually change the world — as in her case, how much we have learned from her.”

Quiroz’s team has a pretty good idea what protected Aliria Piedrahita de Villegas — an additional genetic oddity that apparently countered the damage from her family Alzheimer’s mutation. But testing showed Whitney doesn’t have that protective factor so something else must be shielding his brain.

Now scientists are on the lookout for even more Alzheimer’s escapees — people who may have simply assumed they didn’t inherit their family’s mutation because they’re healthy long after the age their loved ones always get sick.

“They just think it’s kind of luck of the draw and it may in fact be that they’re resilient,” said McDade, a researcher with a Washington University network that tracks about 600 members of multiple affected families — including Whitney, the escapee.

“I guess that made me pretty special. And they started poking and prodding and doing extra testing on me,” the Port Orchard, Washington, man said. “I told them, you know, I’m here for whatever you need.”

Answers can’t come quickly enough for Whitney’s son Brian, who also inherited the devastating family gene. He’s reached the fateful age of 50 without symptoms but knows that’s no guarantee.

“I liken my genetics to being a murder mystery,” said Brian Whitney, who volunteers for Washington University studies that include testing an experimental preventive drug. “Our literal bodies of evidence are what they need to crack the case.”


More than 6 million Americans, and an estimated 55 million people worldwide, have Alzheimer’s. Simply getting older is the main risk — it’s usually a disease of people over age 65.

Less than 1% of Alzheimer’s is caused by inheriting a single copy of a particular mutated gene. Children of an affected parent have a 50-50 chance of inheriting the family Alzheimer’s gene. If they do, they’re almost guaranteed to get sick at about the same age as their parent did.

That near certainty allows scientists to study these families and learn critical information about how Alzheimer’s forms. It’s now clear that silent changes occur in the brain at least two decades before the first symptoms — a potential window to intervene. Among the culprits, sticky amyloid starts building up, followed by neuron-killing tau tangles.

What happens instead in the brains of the resilient?

“That’s why I’m here,” said Doug Whitney, who for years has given samples of blood and spinal fluid and undergone brain scans and cognitive exams, in the hunt for clues. “It’s so important that people in my situation come forward.”

Whitney’s grandparents had 14 children and 10 of them developed early-onset Alzheimer’s. The first red flag for his mother: Thanksgiving 1971, when she forgot the pumpkin pie recipe she’d always made from memory.

“Five years later she was gone,”’ Whitney said.

Back then doctors didn’t know much about Alzheimer’s. It wasn’t until the 1990s that separate research teams proved three different genes, when mutated, can each cause this uniquely inherited form of the disease. They each speed abnormal amyloid buildup.

Doug Whitney’s family could only watch and worry as his 50th birthday came and went. His older brother had started showing symptoms at 48. (Some other siblings later were tested and didn’t inherit the gene although two still don’t know.)

“We went through about 10 years when the kids would call home their first question was, ‘How’s Dad?’” his wife Ione Whitney recalled. “By the time he turned 60 we kind of went, wow, we beat the coin toss.”

But not the way he’d hoped. In 2010, urged by a cousin, Whitney joined the St. Louis research. He also agreed to a genetic test he’d expected to provide final reassurance that his children wouldn’t face the same worry — only to learn he’d inherited the family mutation after all.

“He kind of got leveled by that result,” Brian Whitney said.

While Brian inherited the family gene, his sister Karen didn’t — but she, too, is part of the same study, in the healthy comparison group.


U.S. researchers aren’t the only ones on the trail of answers. In South America, scientists are tracking a huge extended family in Colombia that shares a similar Alzheimer’s-causing variant. Carriers of this mutated gene start showing memory problems in their early 40s.

In contrast, one family member — Piedrahita de Villegas — was deemed to have “extreme resistance,” with no cognitive symptoms until her 70s. Researchers flew the woman to Quiroz’s lab in Boston for brain scans. And when she died at 77 of melanoma with only mild signs of dementia, her brain was donated to Colombia’s University of Antioquia for closer examination.

Her brain was jampacked with Alzheimer’s trademark amyloid plaques. But researchers found very little tau — and weirdly, it wasn’t in the brain’s memory hub but in a very different region.

Clearly something affected how tau formed and where. “The thing that we don’t know for sure is why,” Quiroz said.

DNA offered a suspect: An ultra-rare mutation on an unrelated gene.

That APOE gene comes in different varieties, including a version notorious for raising people’s risk of traditional old-age Alzheimer’s and another that’s linked to lower risk. Normally the APOE3 version that Piedrahita de Villegas carried makes no difference for dementia.

But remarkably, both copies of her APOE3 gene were altered by the rare “Christchurch” mutation — and researchers think that blocked toxic tau.

To start proving it, Quiroz’s team used preserved cells from Piedrahita de Villegas and another Colombian patient to grow some cerebral tissue in lab dishes. Cells given the Christchurch mutation developed less tau.

“We still have more work to do but we’re getting closer to understanding the mechanism,” Quiroz said.

That research already has implications for a field that’s long considered fighting amyloid the key step to treating Alzheimer’s.

Instead, maybe “we just need to block what’s downstream of it,” said Dr. Richard Hodes, director of the National Institute on Aging.

And since Whitney, the Washington man, doesn’t have that extra mutation, “there may be multiple pathways for escape,” Hodes added.

In St. Louis, researchers are checking out another clue: Maybe something special about Whitney’s immune system is protecting his brain.

The findings also are fueling a search for more escapees to compare. The Washington University team recently began studying one who’s unrelated to Whitney. In Colombia, Quiroz said researchers are looking into a few more possible escapees.


That search for answers isn’t just work for scientists. Whitney’s son Brian estimates he spends about 25 days each year undergoing different health checks and procedures, many of them far from his Manson, Washington, home, as part of Alzheimer’s research.

That includes every two weeks, getting hooked up to a pump that administers an experimental amyloid-fighting drug. He also gets regular brain scans to check for side effects.

Living with the uncertainty is tough, and he sometimes has nightmares about Alzheimer’s. He tries to follow what he now knows was his parents’ mantra: “Make the best of life till 50 and anything after that is a bonus.”

He makes lots of time to go fishing and camping with daughter Emily, now 12, who hasn’t yet been told about the family gene. He hopes there will be some answers by the time she’s an adult and can consider testing.

“When I have a bad day and decide maybe I should not continue (the research), I think of her and then that all vanishes,” he said.

—Lauran Neergaard, The Associated Press


Source link

Continue Reading


MUHC opens Quebec's first multidisciplinary referral centre for endometriosis – McGill University Health Centre



Montreal, March 28, 2023 – The McGill University Health Centre (MUHC) is proud to launch Quebec’s first multidisciplinary referral centre for multisystem endometriosis. EndoCARES, or the Endometriosis Centre for the Advancement of REsearch and Surgery, aims to provide patients suffering from pain and infertility due to endometriosis with timely access to specialized diagnostic imaging, followed by multidisciplinary care based on individual needs.

Endometriosis is an inflammatory condition where endometrial-like tissue (similar to the inner lining of the uterus) grows outside of the uterus. Affecting about 1 in 10 women of reproductive age, it commonly causes infertility and debilitating pelvic pain, often severe enough to limit a woman’ s ability to carry out normal daily activities.

“While half of women with infertility and up to 70 per cent of those with chronic pelvic pain have endometriosis, studies show an average delay of seven years from the start of symptoms to diagnosis,” explains Dr. Togas Tulandi, chief of the Department of Obstetrics and Gynecology at the MUHC. “EndoCARES aims to significantly reduce this delay by uniting a team of gynecologic surgeons specialized in minimally invasive surgery – more specifically, in the removal of endometriosis lesions – along with other specialists, such as bowel surgeons, urologists, radiologists and fertility specialists, in a single patient-centered clinic.”

Top row, left to right: Dr. Dong Bach Nguyen; Marie-Josée Bourassa, nurse coordinator, Women’s Health Mission; Pierina Fusco, assistant nurse manager, OB-GYN clinics; Dr. Fady Williamson Mansour, and Dr. Andrew Zakhari.  
Bottom row, left to right: Dr. Togas Tulandi; Karine Rousseau, operating room nurse; Dr. Jessica Papillon-Smith, and Dr. Srinivasan Krishnamurthy.  

EndoCARES specialists come together regularly to discuss complex surgical cases and devise the best treatment strategies to offer patients. Meanwhile, a dedicated nursing staff provides continuity of care for the patients by facilitating the coordination of care between specialists and monitoring post-operative recovery following complex surgeries.

A centre of excellence  

Drs. Dong Bach Nguyen and Andrew Zakhari, co-directors of the centre, both pursued additional training at renowned endometriosis hubs in Europe after completing minimally invasive surgery fellowships in Ottawa and Toronto respectively. As a result, patients treated at EndoCARES now benefit from innovative surgeries specific to endometriosis not previously offered in Quebec. “In Europe, several countries have established centres of excellence to provide specialized care to patients affected by endometriosis. Training in these centres allowed us to bring back not only new surgical techniques, but also the foundations to build an endometriosis referral centre for women with multi-organ endometriosis in Quebec,” explains Dr. Nguyen.

Co-directors EndoCARES
Co-directors, Dr. Dong Bach Nguyen and Dr. Andrew Zakhari

“The primary objective of this centre is to provide women with severe endometriosis affecting other organs like the bladder,bowel or diaphragm, with dedicated surgical and radiological expertise,” says Dr. Zakhari. Along with Drs. Srinivasan Krishnamurthy, Fady Mansour, Jessica Papillon-Smith and Togas Tulandi, this team of surgical gynecologists is committed to improving the care of Quebec women suffering from endometriosis.

Many questions remain unanswered  

“Today, we still do not understand the exact cause of endometriosis, nor do we have a cure,” explains Dr. Tulandi, who is also an associate investigator at the Child Health and Human Development Program at the Research Institute of the MUHC.

Moving forward, EndoCARES aims to enhance basic, epidemiological and clinical research in endometriosis with the establishment of a patient registry that will function as a database for future research. Additionally, the program will facilitate international networking, collaborative research and the standardization of clinical practice through the exchange of ideas and experiences.  

EndoCARES’ state-of-the-art clinical care and forthcoming research are made possible in part by generous donations made to the MUHC Foundation, which has pledged to raise $700,000 in support of personnel and equipment for the EndoCARES program.

“Endometriosis is very common and yet, so many women endure years of pain before receiving a diagnosis. This is completely unacceptable. The MUHC Foundation is proud to support the EndoCARES program, because it will change women’s health care for the better and reduce the pain and uncertainty so many women endure,” says Julie Quenneville, president and CEO of the MUHC Foundation.

Someone to reach out to  

It took five long years before Anisa Gjoka was referred to Dr. Andrew Zakhari and diagnosed with stage 4 endometriosis at 25 years old. “On February 8, 2021, in the middle of a pandemic, I finally had my surgery,” recounts Anisa. “After a four-hour surgery, and with only four small incisions, they were able to carefully remove the endometriosis lesions, leaving all of my organs intact!”  

Anis Gjoka
Anisa Gjoka, patient of Dr. Andrew Zakhari

Today, at 28 years old, Anisa maintains a pain-free lifestyle, something that seemed unimaginable before entering under the expert care of Dr. Zakhari. “It gives me great peace of mind to know that EndoCARES exists – that there is finally someone for me to reach out to whenever I’m in need, and that the young women experiencing their first symptoms will be spared years of suffering and will be cared for by a multidisciplinary team of experts, all in one place.”


About the McGill University Health Centre

The McGill University Health Centre (MUHC) is one of the world’s foremost academic health facilities. Building on the tradition of medical leadership of its founding hospitals, the MUHC provides exceptional multidisciplinary patient-centric care in French and in English. Affiliated with the Faculty of Medicine and Health Sciences of McGill University, the MUHC continues to shape the course of adult and pediatric medicine by attracting clinical and research expertise from around the world, assessing the latest in medical technology, and training the next generation of medical professionals. In collaboration with our network partners, we are building a better future for our patients and their families; for our employees, professionals, researchers and students; for our community and above all, for life. 

Media contact:

Rebecca Burns 
McGill University Health Centre
[email protected] 

Adblock test (Why?)


Source link

Continue Reading


Whooping cough on the rise across southwestern Ontario –



Several public health units in southwestern Ontario say there’s been a rise in cases of whooping cough across the region.

Residents in the Southwestern Public Health region are being urged to get vaccinated against the respiratory illness after 82 cases of whooping cough were recorded from January 2022 to the end of February.

Meantime, Huron Perth Public Health has confirmed at least 21 cases of the illness so far this year, compared to only three cases last year. The Windsor-Essex County Health Unit said last week that it counted 18 cases since November, 2022.


Written by: Ian McCallum

Adblock test (Why?)


Source link

Continue Reading


Niagara Health closing its COVID-19 assessment centre this Friday – Thorold News



Niagara Health’s COVID-19 assessment centre and COVID, cold and flu care clinics (CCFCC) will permanently close on Friday, March 31.

COVID-19 testing will be available at select pharmacies across the region, and the prescription drug Paxlovid will continue to be available through family physicians and at select pharmacies across the region. Remdesivir infusion therapy, which aids in treating COVID-19, will be available in the community. 

Niagara Health’s first assessment centre opened on March 17, 2020, at our Niagara Falls Site and has since administered more than 327,000 swabs. The centres served as the primary screening and testing locations for COVID-19 in the region. The Niagara Falls centre is the final of the three to close. 


Closing these operations will help our health human resources efforts by allowing teams to return to their regular work or to NH priorities and help address staffing pressures and support for those providing frontline care.

“Working with our partners, we also opened an additional temporary location in Niagara Falls to test hospitality and tourism sector workers,” says Zeau Ismail, director of interprofessional practice, research and education; director lead at COVID-19 assessment centre and COVID, cold and flu care clinic. “Community health-care professionals, including family physicians, stepped up to work at these centres, in addition to a number of redeployed hospital staff and physicians.” 

Niagara Health, along with partnering members of the Niagara Ontario Health Team-Équipe Santé Ontario Niagara (NOHT-ÉSON), operated five CCFCCs to test, assess and provide treatment for people with COVID-19 and other cold and flu-like illnesses. Since opening in 2022, the CCFCCs and Niagara Health’s clinical assessment centre have had more than 1,900 visits. 

After March 31: 

  •  If a person has symptoms of a respiratory illness, they are encouraged to call their primary care provider if they have one as the first option for guidance and care. 
  •  If someone develops severe symptoms, they are urged to go to their nearest emergency department or call 9-1-1.

“We are incredibly grateful to our staff, physicians and partners, both on the frontlines and behind the scenes, who helped make the ACs and CCFCCs possible throughout our fight against COVID-19,” says Ismail.


Adblock test (Why?)


Source link

Continue Reading