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Genetic Linkage

Meet the Cammalleri Sisters: How Did They Live to Be 106 and 113?

Recently in my endless email about COVID-19 popped up a new paper analyzing the health of two Italian sisters who lived to remarkably old ages.


"The Phenotypic Characterization of the Cammalleri Sisters, an Example of Exceptional Longevity," from Calogero Caruso M.D. of the University of Palermo, Italy, and colleagues, is published in Rejuvenation Research.


Filippa was a "semi-supercentenarian" of 106 years, born December 12, 1911 and who died July 6, 2018. Her sister Diega, born October 23, 1905 and who died June 15, 2019, was a supercentenarian, living until age 113. Among centenarians – those who see their 100th birthdays – only 1 in 1,000 makes it to 110. Only 27 supercentenarians are known in the world.


To continue reading, go to my DNA Science blog at Public Library of Science. 

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Rare Disease Families Cope With COVID

Families that have members with rare diseases may face challenging situations during the pandemic. They're experts in navigating complex medical situations, but they must now weigh the risks and benefits of taking a loved one with a complication from a rare disease to a hospital.


"We have experience living with uncertainty, for years or even decades. Many of us have experience with isolation, and medically fragile people have always needed to be careful of exposure to people with illnesses. And many of us haven't been able to do things other families do," said Albert Freedman, PhD, a clinical psychologist and caregiver for a 24-year-old son who has spinal muscular atrophy (SMA). He spoke at a webinar that the National Organization for Rare Disorders (NORD) convened March 31, "A Rare Response: Addressing the COVID 19 Pandemic."


To continue reading, go to my blog DNA Science, at Public Library of Science (PLOS). 

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Coronavirus immunity passports could create a world of ‘us and them’. But here’s why they make sense

Dividing groups of people into "us" and "them" isn't usually a good idea, but in the scary new world of COVID-19, it makes a certain sense. Issuing "immunity licenses" – aka passports or certificates – to people whose blood contains neutralizing antibodies against the novel coronavirus may be a safer way to reopen parts of the economy than letting unchecked crowds spill onto beaches, pack into subway cars, and fill eateries, stadiums, and concert venues.


Immunity licenses would "give holders certain time-limited work and social freedoms, joining larger gatherings or returning to nonessential jobs," wrote Mark A. Hall, of the Wake Forest University Schools of Law and Medicine and David M. Studdert, from Stanford University Schools of Law and Medicine, in a recent Viewpoint in JAMA.


License holders could safely:


     Serve pizza, make lattes, scoop ice cream.
     Visit hospitalized loved ones or care for patients.
     Work in nursing homes, assisted living facilities, day care centers, schools, and fitness centers.
     Cut hair, trim nails, fill cavities, and fit eyeglasses


To continue reading, go to Genetic Literacy Project, where this post first appeared.

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The tricky path for using stem cells to treat coronavirus-ravaged lungs

The coronavirus pandemic has unleashed a wave of repurposing efforts, from old malaria drugs prescribed off-label to anti-virals stalled in development from past scourges, like remdesivir for Ebola, SARS, and MERS. Stem cells are finding new niches too, in helping to heal the devastation the novel coronavirus can leave in its wake.


It's understandable in the face of such a swift killer as COVID-19 to desperately try any treatment that makes even a bit of sense. But as many experts have insisted, only a controlled clinical trial can produce reliable information on efficacy.


"One advantage of a randomized controlled clinical trial is that if you find something that doesn't work, you get it off the table quickly. I've been through this before in the early HIV years, when there wasn't any therapy at all. There was the tension between doing a trial and just giving someone something," said Anthony Fauci, MD, director of the National Institute of Allergy and Infectious Disease and unofficial guru of the pandemic, on a recent JAMA Network webinar.


To continue reading, go to Genetic Literacy Project, where this post first appeared.

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Quest for coronavirus treatment inspires modern twist on antique technique using survivors’ plasma

There's no shortage of research efforts looking for ways to stop, or at least slow down, the novel coronavirus. Of course, those strategies involving cutting edge techniques, including CRISPR gene editing, tend to get most of the attention. If it's new, it must better, after all.


But what if we could reach back 100 years for a solution? That's essentially what we've done with the recent decision by the US Food and Drug Administration to authorize the emergency use of an old technique — convalescent plasma — for patients severely ill with COVID-19. The idea is that plasma from people who have recovered can transfer protective antibodies to a still-sick recipient. Donors must have been symptom-free for 14 days with a negative test or for 28 days without one.


"We think it shows promise, and we're going to be starting that this week," said New York governor Andrew Cuomo just before the announcement. 


Natural antibody cocktails


The rich history of convalescent plasma meanders through the plagues of the twentieth century. Hearing about it in the context of COVID awakened memories of receiving a similar treatment, in the 1960s.


To continue reading, go to Genetic Literacy Project, where this post first appeared.

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‘At home’ coronavirus test? How CRISPR could change the way we search for COVID-19

If we take the advice of health experts, we won't be attempting a return to normal life in the US until we get better at identifying people infected with the novel coronavirus. That need is driving researchers across the nation to look for ways to expand our toolbox of testing options. And now a new test, developed using CRISPR gene editing technology, has been added to the mix.


About 5.4 million tests have been done in the US, according to the COVID Tracking Project, in a population of 328.2 million. That might sound like enough to keep ahead of an infectious disease that has "only" killed in five figures, but such an assumption grossly oversimplifies the situation.


Controlling the pandemic in the US is going to require a daunting number of diagnostic tests – not just for the sick, but to verify when they're better (two tests 24 hours apart for hospital discharge), in contact tracing to limit spread, and in the many individuals who've been infected but have few or no symptoms.


"In a few countries, the use of diagnostic testing on a massive scale has been a cornerstone of successful containment strategies," write Matthew P. Cheng, MDCM. McGill University Health Centre and colleagues in a recent article in Annals of Internal Medicine. The US isn't on that list and has been struggling to catch up.


To continue reading, please go to Genetic Literacy Project, where this post first appeared.

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A Tribute to Max Randell, Gene Therapy Pioneer

I awoke on Monday morning to the sad news that Max Randell had passed away on April 18. He would have been 23 on October 9.


Maxie wasn't expected to live past the age of 8, or even much past toddlerhood, according to some doctors. But gene therapy, and his incredible family, had something to say about that. COVID-19 didn't claim him – his body just tired of fighting.


Max Randell's legacy is one of hope, to the rare disease community whose family members step up to participate in the clinical trials that lead to treatments. In this time of the pandemic, attention has, understandably, turned somewhat away from the many people who live with medical limitations all the time. I'll explore that story next week.


A Devastating Diagnosis


Max was diagnosed at 4 months of age with Canavan disease, an inherited neuromuscular disease that never touched his mind nor his ability to communicate with his eyes, even though his body increasingly limited what he could do. Fewer than a thousand people in the US have the condition.


To continue reading, please go to my DNA Science blog at Public Library of Science, where this post first appeared.

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Can genetics explain the degrees of misery inflicted by the coronavirus?


One of the most terrifying aspects of the COVID-19 pandemic is that we don't know what makes one person die, another suffer for weeks, another have just a cough and fatigue, and yet another have no symptoms at all. Even the experts are flummoxed.


"I've been puzzled from the beginning by the sharp dichotomy of who gets sick. At first it was mostly older people with chronic disease, and then a young person with low risk would show up. It can be devastating and rapid in one individual but mild in another," said Anthony Fauci, MD, director of the National Institute of Allergy and Infectious Disease on a media webinar.


What lies behind susceptibility to COVID-19? Gender? Genetics? Geography? Behavior? Immunity? All of these factors may be at play, and they overlap.



To continue reading, go to Genetic Literacy Project, where this post first appeared.

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A Brief History of Plagues and Pandemics: From the Black Death to COVID-19

Daily life in the age of coronavirus has affected us in different ways. For science writers, it means that many of the physicians and scientists we would in normal times talk to are too busy saving lives. At the same time, the science and medical journals are spewing articles faster than we can keep up, peer review necessarily delayed.


For the first half of March, I wrote breaking news articles and quickly burnt out. No one was giving interviews as the publication cycle continually compressed, sometimes doubling back to correct errors as new information flooded in.


And then the webinars began, some for media, some for physicians. I've been doing as many as I can, from government agencies, patient advocacy groups, and the journals. This is my sixteenth piece on the novel coronavirus, thanks largely to these constant updates from the experts. My favorite webinar series is the Live Stream Q&A sessions from The Journal of the American Medical Association's editor-in-chief Howard Bauchner, MD.


I especially liked the webcast on April 2 with Frank Snowden, PhD, professor emeritus of history of medicine at Yale and the author of Epidemics and Society: From the Black Death to the Present, published fortuitously this past fall. Listening to him reminded me of my favorite books about plagues and pandemics, which I'll list at the end.


Dr. Anthony Fauci, who needs no introduction with his face plastered on tee shirts and donuts (I've joined his Facebook fan club), does the JAMA webinar regularly, most recently on April 8. So I'm going to pretend that both gentlemen are sitting here with me and my cats in my living room, briefing me on the past and future of COVID-19, and how it fits into the grand sweep of epidemiology.


To continue reading go to my DNA Science blog at Public Library of Science, where this post first appeared.

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‘Designed to be slow’: Why these coronavirus vaccines in the pipeline won’t be ready this year

New York City has become a curious mosaic of crowds and barrenness, people packed into hospitals and homes, yet familiar favorite spaces eerily empty. The haunted cityscapes that accompany this article will fill again once we have a vaccine.


If all goes extremely well — with global cooperation, advances and insights to come, overlapping clinical trial phases, and a lot of luck — a year from now a vaccine or even vaccines against the novel coronavirus may exist. But that's a best-case scenario. Experts tend to be conservative.


"It's hard for me to see that we'd have a vaccine on this side of January. The process is designed to be slow, reflective, peer-reviewed and evidence-based. It takes a long time, not the science part nor to build the vaccine, but to conduct safety testing in enough people across enough time," said Gregory A. Poland, MD, director of the Mayo Clinic's Vaccine Research Group and editor-in-chief of the journal Vaccine.


To continue reading please go to Genetic Literacy Project, where this post first appeared.

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