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Top 5 medical advances of 2024 · 20-Minute Health Talk

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Sandra Lindsay: Hello, and welcome to 20 Minute Health Talk.
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I'm Sandra Lindsey.
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It's become a tradition each December for us to look back at some of the top
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research advances coming out of the Feinstein Institutes for Medical Research,
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the research arm of Northwell Health.
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And the past 12 months have given us much to talk about.
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Researchers at the Feinstein Institutes have made meaningful strides
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in understanding risk for diseases like pulmonary hypertension,
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Alzheimer's disease, and schizophrenia.
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We're learning more about how biological factors shape sex and gender.
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And we're gathering information about care for patients with trouble swallowing,
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that could inform how best to manage their care.
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Up until recently,
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98 to 99% of the human genome was considered junk DNA,
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meaning it doesn't influence things like our appearance, health,
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or other aspects of our biology.
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But new research from Dr.
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Douglas Nixon, Director of Feinstein's Institute for Translational Research,
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is challenging that notion.
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Dr. Nixon: When the human genome was originally sequenced,
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it was a big shock to everyone because only about 1 to 2% of
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the human genome was coding for genes.
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That was a surprise.
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And the majority of the genome is other stuff.
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And I became very interested in that other stuff.
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Sandra Lindsay: Along with experts from King's College, London, Dr.
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Nixon made headlines in 2024 with a study proving this other stuff isn't
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junk at all and in fact, could be influencing our mental health.
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Dr. Nixon and his team chose to study human endogenous retroviruses,
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which have been embedded in our DNA for millions of years.
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Passed from parents to children, they were thought to be dormant.
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Dr. Nixon: As a virologist,
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I was shocked to find that 9% of everyone's genome is actually the remnants
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of ancient infectious viruses that are sitting in our genome.
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And very few people have actually been studying what these might do.
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Sandra Lindsay: And no one had ever looked at the connection between
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these remnants and psychiatric disorders.
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Dr. Nixon: No one, until we came along, had put two important components together.
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Sandra Lindsay: The researchers reviewed existing records about genes and disease risk.
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Dr. Nixon: Many of us who've done 23 or me or ancestry will understand that
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if you have a certain gene, then you might have a higher risk.
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Sandra Lindsay: They compared two large, seemingly unrelated data sets.
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One, which Dr. Nixon helps create,
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cataloged the locations and types of human endogenous retroviruses in human DNA.
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The other looks for correlations between specific genetic variations and,
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and the likelihood of developing a particular disease,
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as well as how active a gene is and how that relates to disease risk.
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Dr. Nixon: When we put these human endogenous retroviruses into this genetic risk method,
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what surprised us and what we wrote the paper about Is we found that a large
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component of the risk for developing schizophrenia or major depressive disorder
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could actually be related to variation in the inherited
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endogenous retroviruses that we get from our parents.
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For the first time, we're now being able to think about the biology,
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the genetics of psychiatry
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buried in the dark genome.
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Sandra Lindsay: And dark genome is yet another name for that other stuff or junk DNA.
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Now Dr.
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Nixon said they are exploring whether any of these endogenous
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retroviruses they identified can produce proteins.
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Dr. Nixon: Because if they can produce proteins,
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then there may be an easier biomarker which we could look in blood
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to see and monitor people living with schizophrenia who are
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currently under treatment. The work that we've done,
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I'm hoping will lead to new treatment options in the future.
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Sandra Lindsay: 2024 brought much conversation on sex and gender in
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the public sphere as well as among researchers.
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Dr. Dhamala: A lot of people are just getting excited about a lot of these different
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opportunities for avenues of research that we can go
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down that just haven't been explored in the past.
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Sandra Lindsay: That's Dr. Elvisha Damela,
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Assistant professor in the Institute of Behavioral Sciences at the
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Feinstein Institute, interested in advancing these conversations.
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Dr. Damela recently authored a paper on the neurological
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drivers of sex and gender in early development.
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Dr. Dhamala: I'm really passionate about just understanding how sex and gender influence
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our day to day lives.
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They influence our health, our behavior.
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Sandra Lindsay: The research was based on precise definitions of sex and gender.
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Dr. Dhamala: In this study, specifically,
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we defined sex as sex assigned at birth and we only had
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information about binary sex, so male and female.
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In terms of gender,
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we actually considered it along a continuum and we considered
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both how the children and the parents reported their gender,
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and we considered it in terms of gender identity, belt gender,
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gender contentedness, gender expression, as well as sex type,
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behavior during play, and gender dysphoria.
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Sandra Lindsay: An important distinction in her research because
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of the ways the two might inform treatment.
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Dr. Dhamala: Especially in the last decade,
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there has been a lot of emphasis to try and understand how sex differences in
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brain and behavior might actually make men or women more vulnerable to specific
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illnesses and see how we might actually be able to develop sex therapeutic
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interventions that are more effective than just general ones.
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So now if we also add in this component of gender,
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it can further lead us to the pathway towards precision medicine where we can
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actually take in information about different people's identities and use
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that to actually come up with a plan that's most appropriate for them.
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Sandra Lindsay: The paper analyzed data on sex and gender collected
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in a large scale study of children.
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Dr. Dhamala: So this is Data from the Adolescent Brain Cognitive Development,
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or the ABCD study, which is an ongoing longitudinal study of development,
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and it includes close to 12,000 youth in total.
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And these kids are being followed throughout the course of development.
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They were recruited at about ages 9 to 10,
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and they're being followed longitudinally for 10 years.
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Sandra Lindsay: She was able to process this data with the use of a machine learning algorithm,
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or AI that teaches itself to scan data sets and recognize patterns.
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Dr. Dhamala: So we looked at relationships between the brain data and sex,
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and then we also separately looked at the relationships
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between the brain data and gender.
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Sandra Lindsay: One of the main takeaways for Dr.
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Damela related to the ways sex and gender are
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both shaped by connections in the brain.
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Dr. Dhamala: So this study actually shows that sex and gender both map onto the brain,
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and the ways in which they map onto the brain
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are actually different from one another.
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What we see is that sex influences brain regions that are involved
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in visual processing, sensory processing, motor control,
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as well as regions involved in executive function.
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Whereas gender was more dispersed and it had a broader
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influence throughout the entire brain.
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And these included large areas that are involved in executive function,
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including things like attention, social cognition, and emotional processing.
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Sandra Lindsay: And although discourse around sex and gender usually arises in relation
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to the LGBTQIA+ community, Dr. Dhamala explained
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Dr. Dhamala: Every single person. Has a gender, and that influences who we are.
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And we see that it clearly also influences our brain.
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So it's not actually just individuals that might identify as non binary,
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gender fluid or genderqueer that this is going to affect.
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This actually affects every single person.
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Sandra Lindsay: The study supports the idea that sex and gender don't necessarily stop forming.
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Rather,
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the potential for these neurological frameworks
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to evolve and reshape remains for life.
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Dr. Dhamala: I think it's important to recognize that a lot of these aspects of who we are
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and our biology does change significantly throughout the course of development.
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So as these kids go through puberty,
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go through life changing experiences throughout the course of adolescence their
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brains are still developing and they are also still continuing
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to develop in terms of who they are and how they identify.
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So it'll be really important to actually look at whether these relationships
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that we found stay consistent throughout the course of development,
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or if it's actually going to change in some way that might be more relevant,
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especially when we start to think about how this
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could affect adults or people in older ages.
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Sandra Lindsay: Next,
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we take a look at a study that assesses dietary care for hospital patients.
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Dr. Sinvani: It's interesting the way this, this all started.
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It kind of almost happened by, by chance.
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Sandra Lindsay: Dr. Liron Sinvani,
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assistant professor at the Feinstein Institute of Health System Science
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and director of Northwell's Geriatric Hospitalist Services,
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is hoping to ease the burden for older hospital patients who
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have trouble swallowing, a condition called dysphagia.
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Dr. Sinvani: So about a third of older adults will suffer from dysphagia,
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which is this trouble or difficulty swallowing.
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In the hospital,
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it's even more prevalent than in hospitalized people with dementia.
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It's it affects up to almost 90% of patients.
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Sandra Lindsay: The standard for feeding patients with dysphagia has been thick liquid diets.
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Dr. Sinvani: When we swallow liquid, thin liquids, it comes in fast, right?
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Because it's thin liquid, you drink it.
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And for a person who has dysphagia,
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it can be difficult to kind of handle that and control it as it's going down.
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Whereas if you thicken the fluid, they have more control of it.
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It moves slower so they can swallow it with more confidence.
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Sandra Lindsay: This diet also involves cutting up,
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mincing or pureeing foods to make them soft and easier to swallow.
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If foreign objects like food are inhaled into the lungs,
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it can lead to a dangerous lung infection called aspiration pneumonia.
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Dr. Sinvani: It can cause choking, which is very, very scary.
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It can cause people to just cough and like struggle to breathe for a second.
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And we know that that leads to poor outcomes.
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You know, pneumonia is very dangerous in older people.
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Sandra Lindsay: Although thick liquid diets were put in place with safety and comfort in mind,
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they can often be counterproductive.
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Dr. Sinvani: Imagine let's say that you,
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it's a hot day and you're very thirsty and you want to drink water.
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And I say, well, you can have water, you have to drink honey, right?
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And it's not the most like hydrating thing.
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And people tend to, to be thirst.
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It's really hard to explain, especially to someone with dementia, let's say,
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or cognitive impairment, Alzheimer's disease,
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where they just really want the food that they're used to.
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And of course, the most frustrating part is if that person is crying,
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I'm thirsty, I'm thirsty, or I don't like this food,
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all of a sudden now they're not eating.
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Then it's a major quality of life issue.
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Sandra Lindsay: A few years back, Dr.
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Sinvani was asked to contribute to a medical journal.
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This problem with thick liquid diets came to mind.
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Dr. Sinvani: I had a patient who was admitted with aspiration pneumonia and with dysphasia.
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And I was thinking like, what's the evidence?
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Why am I putting this person on a dysphasia diet when they hate it so much?
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And I was looking at the literature.
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And I saw, really, there wasn't much to.
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Support this universal practice that we all do.
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Sandra Lindsay: With funding from the National Institute of Aging, Dr.
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Sinvani and fellow Feinstein Institute's researcher
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Dr. Alex Makhnevich,
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enlisted a team of data analysts to comb over 40,000
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patient records drawn from 11 Northwell hospitals.
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Their goal was to figure out whether thick liquid
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diets influence mortality in these patients.
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What they discovered was stunning.
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Dr. Sinvani: There was no difference in mortality,
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which is significant.
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And then, you know,
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it did show that the thick liquids had increased risk of respiratory
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complications but decreased risk of intubation.
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Sandra Lindsay: This outcome raises important questions about the benefits
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of thick liquid diets for dysphagia management, and Dr.
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Sinvani says, requires more research to improve guidelines on its use.
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Dr. Sinvani: Because this is a retrospective study,
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we're not saying that we should be changing management based on our study.
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There are probably patients that would benefit from thickened liquids
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and dysphagia diets, but there are probably patients that don't,
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where the impact on quality of life sort of overtakes the benefit.
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The bottom line from our study is to show that
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things may not be as clear cut as we think.
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Sandra Lindsay: Dr. Sinvani also hopes that her research inspires caregivers
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to think critically about the care they provide.
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Dr. Sinvani: Just because something is a standard of care doesn't mean that
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it's necessarily backed by rigorous evidence.
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Right?
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And I think that's, that's an important lesson.
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It's okay to question things and to question common practices.
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Sandra Lindsay: Alzheimer's disease is devastating,
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robbing individuals of their memories and often their sense of self.
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But for many, the disease brings another heartbreaking symptom.
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Dr. Koppel: Psychosis is probably the most severe syndrome, behavioral syndrome,
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that people with Alzheimer's experience.
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Sandra Lindsay: That's Dr. Jeremy Koppel,
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co director of the Litwin Zucker Research center at the Feinstein institutes and
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co author of a study that could help detect this often overlooked
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aspect of Alzheimer's earlier, using a simple blood test.
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Dr. Koppel: Psychosis is something that affects 40 to 50% of people,
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probably over the course of their disease.
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Women more than men, very difficult to manage.
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Sandra Lindsay: And very often families don't make the connection.
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Dr. Koppel: So they'll come and they'll say, listen, yes, he has Alzheimer's,
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but he has another problem.
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And they'll describe it, and they are not aware that it's related.
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And so it doesn't really get the appropriate treatment early on.
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Sandra Lindsay: But new research is offering a glimmer of hope.
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Dr. Koppel and his team are investigating whether a simple blood test
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could predict the onset of psychosis in Alzheimer's patients.
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The Key lies in proteins like amyloid and tau, spelled tau,
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which help maintain the structure of brain cells.
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In Alzheimer's, tau becomes abnormal and accumulates,
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contributing to the death of these cells.
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Dr. Koppel: Amyloid builds up outside of brain cells.
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Tau builds up inside of brain cells.
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Sandra Lindsay: Increased levels of these two proteins are the hallmark sign
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of Alzheimer's disease. But detecting them is no easy task.
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Dr. Koppel: We did spinal taps for years.
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We still do because that was the only way we could see some of these proteins.
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Sandra Lindsay: While these proteins are shed from the brain into the bloodstream
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where they can be measured, they circulate at very low concentrations.
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Dr. Koppel: Which would make it really hard to detect them.
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Sandra Lindsay: But advances in technology over the last decade have solved for this issue in
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the form of highly sensitive blood tests that uses antibodies or immune cells
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to seek out and latch onto specific target proteins, in this case tau.
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Dr. Koppel: So what we did is we took these very critical proteins
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that are used to diagnose Alzheimer's,
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and we looked at the concentration of those in
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the blood of people who had become psychotic.
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Sandra Lindsay: Dr. Kopel and co author on the paper,
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Dr. Jesus Gomar,
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analyzed blood samples from nearly 1,000 participants in the Alzheimer's
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Disease Neuroimaging Initiative, a large ongoing study.
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These individuals had provided blood samples and undergone cognitive testing
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over several years. Some developed psychosis, others did not.
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Dr. Koppel: So it turns out, before they became delusional or developed hallucinations,
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the tau in their blood began to go up.
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And when we looked at people who never became psychotic but had Alzheimer's,
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their tau sort of remained flat.
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The concentration didn't change. It was much higher than if they were healthy,
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but it didn't change. If they never got psychotic,
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if they were getting psychotic, it went up.
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Sandra Lindsay: Then, they discovered something even more revealing.
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Dr. Koppel: When they actually had a episode of psychosis, it fell.
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After that, it never reached the level of a healthy control.
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But it looked like there was this rise and fall that always remained elevated,
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but looked really, really different than non psychotic Alzheimer's.
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That's important because that tells you that there's something dynamic
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about Tao in psychosis that's not true once you get Alzheimer's.
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Sandra Lindsay: This finding was further supported by examining brain
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tissue post mortem from a separate data set,
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confirming the link between tau and the very earliest stages
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of psychotic Alzheimer's, even before symptoms appear.
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This discovery has the potential to revolutionize
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how we approach Alzheimer 's-related psychosis.
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Early detection through a blood test could lead to earlier intervention
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and the development of safer, more effective treatments.
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Last but not least, we spoke to Dr. Stavros Zanos,
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researcher and associate professor at the Feinstein
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Institutes and the Zucker School of Medicine.
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He and his team are exploring a new non invasive treatment
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option for an often fatal lung disease.
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Dr. Zanos: Pulmonary hypertension means high blood pressure inside the vessels of the lung.
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One type called pulmonary hypertension (PAH)
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It's the most complex type of pulmonary hypertension.
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In many of these patients with the disease,
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the PAH have what we call vasoconstriction of the pulmonary arteries,
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so the arteries are constantly constricting.
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Sandra Lindsay: Current FDA approved treatments focus on relaxing the lungs blood
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vessels to lower pressure. They improve quality of life,
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but don't address the underlying cause or improve long term survival.
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Dr. Zanos: And most of them actually die within less than 10 years after diagnosis.
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So it's a very severe and fatal disease.
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Sandra Lindsay: With patients and their doctors desperate for better options,
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Dr. Zanos is now testing a treatment that he thinks
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could address the underlying cause of PAH.
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Dr. Zanos: Immune system dysfunction and inflammation play a role in how this
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disease gets worse and worse, or even perhaps how it starts.
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Sandra Lindsay: When inflammation becomes excessive, it starts to do more harm than good.
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Rather than healing an injury, it can damage critical structures in the body,
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including organs. One way to treat this is by stimulating the vagus nerve,
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which controls the level or intensity of inflammation in the body,
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among other responsibilities.
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One type of vagus nerve stimulation uses ultrasound technology.
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While best known as an imaging tool used to monitor fetuses in the womb,
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it can and has been used as a treatment.
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Dr. Zanos: Focused ultrasound neuromodulation is using the same technology
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or a similar technology this time to generate mechanical waves,
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just like with imaging,
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but of certain parameters with certain characteristics
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that actually change the way cells work.
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Sandra Lindsay: In their study, they targeted a nerve in the spleen called the splenic nerve.
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Dr. Zanos said they chose this based on prior research showing that it helps
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suppress the immune response throughout the
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body when activated through stimulation.
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But what does a nerve in the spleen have to do with the lungs?
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Dr. Zanos: It doesn't have a simple answer.
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The short answer is we don't know, but we have some ideas.
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The core of the hypothesis,
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we change something in the nerve of the spleen that results
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in an immune change in these cells inside the spleen,
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resulting in a suppression of inflammation throughout the body,
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especially in that part of the body that is dysfunctional in PAH,
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which is the lungs.
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Sandra Lindsay: To test it, Dr.
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Zanos and his team applied focused ultrasound treatments to rats with pulmonary
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arterial hypertension, or PAH, 10 minutes a day, every day for two weeks.
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After the two weeks,
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the researchers compared the treated rats to a control group
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that hadn't received treatment.
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Dr. Zanos: So the animals that had received treatment at the end of two weeks,
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we found that they had reduced one of the major markers of severity
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of the disease, which is the pressure inside their lungs.
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It was about 30% less than the pressure in animals that were treated with the
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SAM treatment. So that was the first finding that kind of alerted us,
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and we thought, okay, there's something here, right?
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But does this translate to people with pah?
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We have no idea. Lots of open questions.
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So there are questions on the, let's say, mechanistic side of things.
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There are questions related to the technology development, and finally,
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there are clinical questions.
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Sandra Lindsay: Dr. Zanos said they are actively looking into all of these questions and
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hope to test this vagus nerve stimulation treatment in people with PAH in the coming years.
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Dr. Zanos: By maybe modifying the natural progression of the disease,
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maybe we can increase the life expectancy for these people
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which would be great because right now it's pretty bad.
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Sandra Lindsay: A sincere thank you to Drs.
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Stavros Zanos, Jeremy Koppel, Liron Sinvani, Elvisha Dhamala, and Douglas Nixon.
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What an incredible lineup representing the brilliant minds
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at the Feinstein Institutes for Medical Research.
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They've given us a glimpse into the future of medicine,
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and 2025 is looking brighter than ever.
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While our countdown traditionally marks the end of our podcasting year,
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we have a heartwarming treat in store.
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Tune in later this week for a very special episode featuring
26:10
the wisdom and delightful innocence of children.
26:14
They'll be sharing their New Year's resolutions for grownups,
26:18
offering a fresh perspective on what truly matters.
26:22
As we head into 2025,
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it's the perfect way to wrap up a year of exploring health and and well being.
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On behalf of the entire 20 minute health talk team,
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thank you for being a part of our community.
26:37
We wish you a joyful and healthy holiday season.
26:41
I'm Sandra Lindsay, and this has been 20-Minute Health Talk.