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Posts by Sergio Pistoi:

Communicating the risk of BRCA mutations: how we can do it better.

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The Italian supermodel Bianca Balti recently announced she is  battling against ovarian cancer. Her story should raise a debate about how we manage and, more importantly, communicate with patients who carry BRCA1 mutations.

As a molecular biologist and science communicator, I’ve encountered these genetic predispositions frequently in my work and written about them in my books. These rare DNA mutations account for only a small fraction of all cancer cases but dramatically increase the risk of developing breast and ovarian cancer (and to a lesser extent, pancreatic cancer). When I say “dramatically,” I mean a 40% to 80% chance of developing one of these cancers, depending on the specific mutation and family history—far higher than the risk faced by women without the mutation.

A few years ago, Balti (who is currently undergoing treatment, and we all wish her a swift recovery) publicly shared her discovery of this mutation in her DNA, together with her choice to undergo a mastectomy—the most effective way to lower breast cancer risk in such cases—and  to remove her ovaries.

Her situation closely mirrors that of Angelina Jolie who, years earlier, opted to remove her breasts and ovaries after learning she carried mutations in the same gene. While we don’t know why Balti ultimately decided not to remove her ovaries as planned, that is her personal choice, and it’s not our place to judge or question it.

What we do know, unfortunately, is that with a BRCA1 mutation, which brings a cancer risk of 40% or higher, waiting can feel like gambling with fate. Experts are fairly unanimous today in recommending that women with these mutations remove their breasts and ovaries as early as possible, especially since they can freeze their eggs beforehand if they still want the possibility of having children.

Such choices are deeply personal. My impression,  however, is that  the risks of carrying these mutations isn’t always communicated with enough clarity or urgency to patients and their families. Women with BRCA mutations need a crystal-clear understanding of the risks they take by delaying these preventative surgeries.

In many cases—beyond these public examples—the seriousness of this risk may be not  conveyed properly. Doctors should also take  into account  the influence of loss aversion (a well-known cognitive bias that leads  to avoid immediate harm, even if it means risking far greater harm later) which can affect everyone, especially when faced with difficult decisions in stressful situations. Giving people information isn’t enough; we need to address these biases to help them make truly informed and rational choices.

Even earlier in the process—before a diagnosis— many women do not get tested even though their family histories strongly suggests a genetic predisposition to cancer, putting their lives at unnecessary risk and relying solely on regular screenings.

To be clear:  screenings are crucial, but BRCA mutations are notoriously aggressive. I know more than one person with these mutations who went from a clean screening one year to being diagnosed with advanced cancer the next. All signs suggest Bianca Balti may have experienced this. Trusting only in screenings, in my view, is not a safe approach for those with these mutations.

Again, we don’t know why Balti delayed her surgery, but the important thing is to send a clear message to everyone: understand the risks.

For those carrying these mutations, they are really high. If you have a family history of breast and/or ovarian cancer (in your mother, aunts, or sisters), you should seek genetic counseling (which is available through national health services) and, if necessary, undergo genetic testing. The test is simple—i takes a sample of blood or saliva.

What about women without a family history of these cancers? Genetic testing usually isn’t recommended, since BRCA mutations are rare in the general population, and new, spontaneous mutations are even rarer.

However, family history isn’t always reliable, especially in families with few women, where random chance can be misleading. Therefore, I believe it’s worth considering genetic counseling—and possibly testing—if you’re diagnosed with breast cancer before the age of 40. 

According to the National Cancer Institute, a woman diagnosed with breast cancer before age 40 has a 1 in 10 chance of carrying a BRCA1 mutation. In certain populations, such as Ashkenazi Jews, the probability is even higher. Today, genetic testing is relatively affordable and should not be an insurmountable barrier.

Once again, clear communication is key, and we owe our gratitude to public figures who share their experiences and contribute to meaningful discussions on these critical issues.

The Lost Art of Dissing

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Vattimo e Regge

When did we forget how to argue well? An old-fashioned skirmish between a scientist and a philosopher is something to miss today. 

The philosopher Gianni Vattimo, who recently passed away, is tied to one of the most entertaining and enlightening moments I’ve ever witnessed, and I still miss it. In the late 1990s, I had the privilege of attending a legendary debate between him and physicist Tullio Regge  in Turin. The title alone, “Science and Philosophy: Dialogue or Clash?” promised sparks to fly. Regge’s allergy to epistemologists and probably philosophers in general (a condition I think I suffer from as well) was well-known, and the sharp tongues of both speakers, along with their vast knowledge, promised a lightning-fast encounter. We were not disappointed.

On the topic, the two had clearly opposing positions that they vigorously defended. But they were also friends and intellectuals far above the average, so it turned into an unparalleled series of quips, jabs at the intersection of Physics and Philosophy, stories, and semi-mockery. Regge, as a scientist, argued for the fundamental scientific uselessness of his interlocutor, and Vattimo teased him, accusing him of narrow-mindedness.

In a different context, with different people, it could have been a bloodbath because what they said to a less open and intelligent mind could have been offensive. But they had fun, and so did we, and we learned because even the slightest quip was a concentrated dose of reasoning and knowledge that the two explained and shared, even as they continued needling each other mercilessly.

That encounter was a form of high-level dissing. It started with the assumptions of a talk show but worked the other way around, turning controversy into growth, rather than turning reason into a brawl. Even those, like me, who shamelessly rooted for one of the two (and you’ve figured out who it was), could appreciate the fine reasoning of the other, laugh at it, and at the same time learn something.

You could easily imagine the two of them discussing for hours in a Turin café, or on the phone as they apparently often did. For someone like me, who was just starting out as a science journalist, witnessing that debate was an incredibly enlightening example. They managed to bring together people who literally argued on stage but with style and intelligence, resulting in something both fun and instructive for the audience. It’s something I had always believed in but had never seen practiced at that level, at least not in Italy.

Unfortunately, I haven’t seen this approach applied in the years that followed. Not so much because of a lack of capable speakers (who could be found, even though those two were at the top), but because we all breathe a decidedly different and more toxic atmosphere.

Platforms, propaganda, polarization, and social bubbles make it increasingly difficult to argue in a fun and constructive manner. Can you imagine two academics today calling each other useless and ignorant, dragging their entire category of colleagues into it on Twitter? Tarantino could set up a camera and shoot a splatter scene. Perhaps even Regge and Vattimo, if they were to debate on Twitter today, would tell each other to go to hell and ban each other, never speaking again.

Even in real life, it seems like we’ve forgotten how to argue well. There’s palpable fear of a sharp but intelligent clash of views, which risks ruining an evening rather than enriching it. A witty quip, the bait for a healthy diss, is taken as a personal offense. The atmosphere freezes in fear that everything will degenerate in an instant. The level of discussion must always be kept within rhetorical boundaries that don’t upset anyone, within narrow emotional constraints, unbearable and incompatible with intelligent growth, which has always come from some metaphorical, friendly, and non-malicious scratch.

This form of unspoken terror regarding dissing seems to be infecting more and more our work, which should involve useful and well-done confrontation. It infects those who organize scientific debates and festivals, where for some reason, they think that even interesting and civil controversy has no place. Panel members are almost always chosen to tell different pieces of the same story, not to argue with each other.

The few times I’ve been invited to speak and politely offered a slightly contrasting point of view with someone on my panel or participated in an online debate, I’ve felt the disapproving and terrified looks of my colleagues and received messages like “leave it alone, it’ll seem like we don’t get along even among ourselves, and the audience will get confused.”

Confused? But if we remove well-executed controversy, if we untrain people from arguing well, from defending and comparing ideas, all that’s left is the choice between self-referential rambling and the empty and venomous controversy of talk shows. That’s what’s truly confusing. And that’s what’s happening.

In short, I never followed Vattimo particularly closely, and as you’ve understood, when it comes to philosophy, I share the same view as the late Regge.

But today, I’d pay gold to see two people argue as well as they did, with all the expertise, humor, and time it takes to produce something useful. Regge probably didn’t believe in the afterlife, and I didn’t quite understand whether Vattimo did. But if there’s something out there, now that Vattimo is gone, I suppose they’re already insulting each other.

Not only for the greater good: five selfish reasons to improve communication (scientists edition)

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Many scientists see public communication and outreach as a way to give back to society, or they pursue them as mandatory activities required by some funding agencies, such as the EU.

But there is more to it. Investing in a good communication strategy has many practical and economic benefits that go far beyond the scope of a single project or grant. Drawing on my experience as a communications consultant, I present here some practical benefits of well-executed, strategic communication that are often underestimated by researchers:

1) Building a reputation

With a good communication plan and its implementation, an institution or an individual researcher can increase its credibility and visibility. Positioning oneself as a valuable resource and a reputable source of knowledge is key to attracting top talent, fostering collaborations and tapping into further funding opportunities.

2) Attract funding
Research relies heavily on external funding. A well-executed communication plan can help attract funding by demonstrating the institution’s value proposition, the societal impact of its research and the potential return on investment for funders. Effective communication can convey the potential for future breakthroughs and public perception, making it more attractive to philanthropic organisations, government agencies, private investors and industry sponsors.

3) Industry partnerships and commercialisation opportunities
Many research institutions seek to bridge the gap between academia and industry by promoting technology transfer and commercialisation of their findings. Unfortunately, too many potential partnerships  never materialise because of a poor pitch or because they’re unable to address a non-academic target. By effectively communicating the potential applications and the advantages of  collaboration, it’s more likely to attract industry partnerships, licencing agreements and spin-offs that lead to commercial gains.

4) Motivating the research team and attracting new talent

Excellent visibility of a team or institution evokes a sense of pride and social achievement among team members and strengthens the group. When they see their efforts recognised and celebrated in the media, the team feels valued and acknowledged. This can be a life-changing turnaround for students and post-docs whose hard work and contributions often go unnoticed by the public and even their social circle. I still remember how I felt when the media became aware of the excellent work being done in my lab. I wasn’t even directly involved in the research, but the social recognition and sense of belonging was enormous! Last but not least, public visibility helps recruit the best talent – in addition to scientific reputation, career prospects, research interest and economic incentives, which are important factors in choosing where to work.

5)  Engage stakeholders and gain support

Well thought-out communication is important to maintain a close relationship with stakeholders (e.g. patient associations) who are critical to many research activities, such as clinical trials. An honest and long-term relationship with stakeholders through newsletters, events and other communication channels isn’t only the right thing to do, but also a way to build alliances that are important for future ventures.

In summary, a good communication strategy is always a worthwhile investment for a research institution and even for an individual researcher, provided it’s carried out together with competent professionals who priviledge durable results. 

ESTOOLS EU project press release

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University study sheds light on human embryonic stem cells’ DNA changes

****Images available***

 

A study on the genome of human embryonic stem cells
(hESCs) has brought scientist closer to identify and circumvent the adverse DNA
changes that naturally occur when these cells are multiplied in laboratory. The
findings could help researchers to prevent deleterious mutations in cultured
hESCs- a factor that hampers their future medical use – advancing towards application
of stem-cells-based regenerative treatments.

 

The collaborative study, coordinated through EU-funded
project ESTOOLS and involving experts at the University of Sheffield, is published
by  the peer-review journal Nature Biotechnology, and appeared on the journal’s website on March 29th. [note: add complete reference to the article with DOI: 10.1038/nbt.1615]

 

Embryonic stem cells are studied for potential applications
in regenerative cell replacement therapies because of their unique capacity to
self-renew and differentiate into a variety of cell and tissue types, including
neurons, blood cells, bone and muscle.

 

However, it is known that genetic changes take place
in various hESC lines as they are kept multiplying in laboratory, some of which
resemble the DNA abnormalities typical of cancer cells. hESCs may also undergo
other genetic changes undetectable by conventional methods, raising concerns
for their medical use.

 

To address this issue, researchers used high
resolution DNA analysis to plot the genetic changes in 17 hESC lines cultured
over many generations, from the ESTOOLS consortium, the largest cluster of hESCs
laboratories in Europe. Authors of the study include  several partners of ESTOOLS consortium,
including Prof Riitta Lashema and colleagues in Turku, Finland.

 

The study (which is the highest-resolution DNA
analysis ever done on hESCs genome)  mapped  hundreds
of copy number variations (CNV) and loss of heterozigosity (LOH)after prolonged
passages in culture. Both CNV and LOH are genetic variations that are usually  associated with tumour transformation.

 

For the first time, researchers could shortlist a
number of genes that map inside or near the mutated sites, and that could therefore
be affected by these potentially deleterious changes. “When we know  which genes are involved, it will be easier
to reject  those hESC  lines in which those genes are mutated”, says
Peter W. Andrews, from the University’s Department of Biomedical Sciences, a
leading author of the study.

 

Importantly, researchers found
that some hESC lines are significantly less prone to undergo genetic abnormalities
than others, which will help  to select
lines that are more suitable for medical applications.

 

Authors point out that the
study will also help to dig into the so-called culture adaptation process, i.e.
the accumulation of genetic changes typical of malignant transformation, that
is mimicked  by hESCs in culture.

  

 

Notes for editors:

 For more information on
the ESTOOLS International Scientific Symposium, please visit:

 

www.estools.eu/Lisbon <http://www.estools.eu/Lisbon>

 

ESTOOLS Media Relations:

Sergio Pistoi

 

*NR***/ends*

 

Neurostemcell press release

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Study from NeuroStemcell group opens new perspectives for Parkinson’s

November 6th, 2011

A study coordinated by Lorenz Studer, a NEUROSTEMCELL principal investigator, has developed a new strategy for the efficient transformation of human pluripotent stem cells (PSCs) into dopamine-producing neurons. The neurons can be implanted into animals where they show “robust performance” by forming new connections and achieving long-term survival. The result is a significant progress in the use of PSCs and may help to develop new therapies for neurodegenerative diseases. The work is published in the journal Nature.

The degeneration of dopamine-producing (dopaminergic, in jargon) neurons is the main event behind the onset of Parkinson disease. One goal of NEUROSTEMCELL is to use PSCs to produce dopaminergic neurons that may be transplanted in patients affected by Parkinson’s and other neurodegenerative disorders.

Over the last decade, several groups have obtained dopaminergic-like cells from embryonic stem cells in a culture dish. However, those cells fell short of behaving like normal dopaminergic neurons. For example, they did not survive long enough after transplantation and often multiplied abnormally, leading to neural overgrowth and, sometimes, cancer.

Studer and his coworkers harnessed insights from developmental biology to overcome these problems. They developed a strategy to obtain “authentic” dopaminergic cells that are very similar to the ones normally found in the brain.

When researchers implanted these new cells into animal models of Parkinson disease — mice, rats and monkeys — the neurons survived and integrated properly in the brains, and produced dopamine like their normal counterparts. Also, they did not multiply abnormally after transplantation, which avoided neural overgrowth and adverse events following engraftment in the animals. The treatment also improved some symptoms in Parkinson’s affected rodents.

The results are encouraging but are still in the field of basic research, warn the authors of the Nature study. More work is needed before these findings may be eventually transferred to patients. “We are now gearing up to produce dopaminergic cells under conditions that would be suitable for clinical use. The process involves careful adaptations in cell manufacturing, scale up and safety testing. We expect completion of those studies within the next 3-4 years, the minimum time frame required for initiating studies potentially in human patients”, says Studer.

“We are very fortunate to be the only non-EU member of Neurostemcell […]. My lab has greatly benefited from the collaborative and interactive environment, and the shared mission helped in driving the project forward”, he says.

Sergio Pistoi

References

Sonja Kriks, Jae-Won Shim, Jinghua Piao, Yosif M. Ganat, Dustin R. Wakeman, Zhong Xie, Luis Carrillo-Reid, Gordon Auyeung, Chris Antonacci, Amanda Buch, Lichuan Yang, M. Flint Beal, D. James Surmeier, Jeffrey H. Kordower, Viviane Tabar & Lorenz Studer. Dopamine neurons derived from human ES cells efficiently engraft in animal models of Parkinson’s disease. Nature, 6 November 2011 (online) doi:10.1038/nature10648

http://www.neurostemcell.org

 

Some comments from other NeuroStemcell members

Elena Cattaneo, University of Milan, NeuroStemcell coordinator:

This work represents an important step towards the possible application in the clinic of human embryonic stem cell based therapies and sets a challenge for Europe concerning the future regulatory ground and the competitiveness of regenerative medicine.

Anders Björklund, Lund University, Sweden and NeuroStemcell deputy coordinator:

The new study represents an important step in the development of a stem cell based therapy for Parkinson´s disease. Efforts along these lines go back to the late 1980s when the first patients received transplants of dopamine neurons derived from the developing brain of aborted fetuses. Although these trials have given quite promising results in some patients, the use of fetal tissue for cell transplantation is both ethically and practically problematic. Over the last decade, therefore, the focus of research has been on the use of stem cells for this purpose.  The generation of fully functional dopamine neurons in large numbers, however, has turned out to be a challenge. Previous attempts have faced two major hurdles: to get the stem cell derived dopamine neurons to survive and grow in the recipient brain, and to avoid the inclusion of dividing cells that overgrow to form tumors. The derivation technique devised by the  Studer team in this new study is a breakthrough in this regard: their procedure is not only remarkably efficient, but the neurons generated show excellent survival and provide efficient restoration of motor deficits in both rodent and primate transplantation models.

Austin Smith, University of Cambridge, NeuroStemcell PI:

The European Commission have played an important role by part-funding the research. This means the results have been shared at an early stage with European scientists who are now working towards applications in patients together with Dr Studer.

Read the press release from Nature

 

Press coverage of the story (selection)

The Guardian

The Irish Times

Fox News

Wall Street Journal (blog)

Technology Review

European Research Headlines

Dog DNA tests: How accurate are they, and what can you learn?

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Of the many dog DNA tests on the market, which one is right for you and your pet? How do they work, are they accurate, and what can you learn?

For the genealogically curious, DNA tests are increasingly popular as holiday gifts, and this is not just limited to test kits for humans: Dog DNA tests are now available to give you insights into your pooch’s genetic makeup. 

While genetic testing for human ancestry and disorders has been around for several years, dog DNA tests that can identify the breed of your four-legged-friend have appeared relatively recently. So, should pet owners invest their hard-earned money in a dog DNA test, and what can they actually reveal? 

(Article featuring an interview with Sergio Pistoi about his book DNA NATION)

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How Accurate are DNA tests?

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Exactly how accurate are DNA tests, and how much can your genetic data really reveal about you? To find out, we asked a molecular biologist.

With genetic testing for health, ancestry, paternity and more becoming increasingly popular, many people are left wondering: exactly how accurate are DNA tests? Whether you are taking a DNA test to build your extended DNA family tree with an AncestryDNA(opens in new tab) testing kit, or want precise information on hereditary health conditions with 23andMe(opens in new tab), it is important to understand how accurate genetic tests are, and what information we can rely upon.  

How accurate DNA tests are relies greatly upon the kind of test being taken. “The accuracy of results depends on the specific question we ask, and on how complex is the genetics behind a trait,” Sergio Pistoi, a molecular biologist and author of “DNA Nation(opens in new tab)” (Crux Publishing, 2019), told Live Science. For example, tests for traits that depend on a single gene, called monogenic traits, provide much more reliable results, because you can see whether a disease-causing mutation or another trait is present.   Read Full Article: https://www.livescience.com/how-accurate-are-dna-tests

DNA NATION and the future of home genomics

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Paul Levinson interviews Sergio Pistoi about his book

It was a great honor to be interviewed about my book DNA NATION by Paul Levinson, a writer of over 20 science fiction books and a media professor at Fordham University. We discussed about the rise of DNA social networks and the pervasive future of genetics with a little help from H.G. Wells, Spielberg and Netflix. Enjoy the interview like we did -and share!

Rapid tests for coronavirus and their accuracy

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Youris.com, March 2021

Even with the advent of vaccines, strategies for rapid and affordable testing for COVID-19 are still paramount. The lack of evidence that the current vaccines can completely stop people from being infected and the emergence of virus variants make widespread testing crucial. But what do we mean as a “rapid” test and how do they compare to “standard” ones?

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