Empowered Patient Podcast

Geoff Rhyne, Co-Founder and CEO of IDefine, discusses the mission to advance research into Kleefstra syndrome, a rare genetic disorder, and to find a treatment where there is currently none. This organization of parents of children with KS is advocating for broader genetic sequencing to identify KS patients and differentiate the condition from other possible diagnoses, such as autism. Their research strategy is to first build the necessary infrastructure, including real-world data, model systems, and clinical guidelines, to de-risk the process for researchers and directly fund drug development.

Geoff explains, "We're dedicated to advancing research, building community, and driving progress for Kleefstra syndrome. And the inspiration behind it is that a bunch of parents had impacted children. And, namely, for me, my daughter Ella received her diagnosis on February 26th, 2019. You asked a rare disease parent. Their diagnosis day and odds are they'll be able to rattle off pretty quickly because it is life-altering and changing. And once we looked around the landscape of Kleefstra syndrome and what was being done, we identified a need. And so a group of other parents and I came together and founded the organization in 2020."

"KS is one of these rare genetic disorders, and it affects brain development and basically every aspect of a child's life. And it could encompass developmental delays, feature delays, seizures, kidney issues, and cascading other conditions. So what happens with KS is that when you get the diagnosis, folks have often gone on a diagnostic odyssey. It's very rare that folks are being identified early on. And so we're part of that cohort that believes there are many more patients out there with KS, but the diagnostic odyssey is a real challenge. And so we typically will see kids receiving their diagnosis from three years to we've had someone diagnosed at 40 before, which is just a crazy experience as you can imagine."

#IDefine #KleefstraSyndrome #EHMT1 #RareDisease #RareDiseaseResearch #NeurodevelopmentalDisorders #GeneticDisorders #PatientAdvocacy #CaregiverSupport #FamilyLedResearch #RareDiseaseCommunity #PrecisionMedicine #Genomics #MedicalResearch #ClinicalResearch #TranslationalResearch #DiagnosticJourney #PatientSupport #ResearchFunding #InclusiveCare #PatientVoices #RareDiseaseAwareness

IDefine.org

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Geoff Rhyne, Co-Founder and CEO of IDefine, discusses the mission to advance research into Kleefstra syndrome, a rare genetic disorder, and to find a treatment where there is currently none. This organization of parents of children with KS is advocating for broader genetic sequencing to identify KS patients and differentiate the condition from other possible diagnoses, such as autism. Their research strategy is to first build the necessary infrastructure, including real-world data, model systems, and clinical guidelines, to de-risk the process for researchers and directly fund drug development.

Geoff explains, "We're dedicated to advancing research, building community, and driving progress for Kleefstra syndrome. And the inspiration behind it is that a bunch of parents had impacted children. And, namely, for me, my daughter Ella received her diagnosis on February 26th, 2019. You asked a rare disease parent. Their diagnosis day and odds are they'll be able to rattle off pretty quickly because it is life-altering and changing. And once we looked around the landscape of Kleefstra syndrome and what was being done, we identified a need. And so a group of other parents and I came together and founded the organization in 2020."

"KS is one of these rare genetic disorders, and it affects brain development and basically every aspect of a child's life. And it could encompass developmental delays, feature delays, seizures, kidney issues, and cascading other conditions. So what happens with KS is that when you get the diagnosis, folks have often gone on a diagnostic odyssey. It's very rare that folks are being identified early on. And so we're part of that cohort that believes there are many more patients out there with KS, but the diagnostic odyssey is a real challenge. And so we typically will see kids receiving their diagnosis from three years to we've had someone diagnosed at 40 before, which is just a crazy experience as you can imagine."

#IDefine #KleefstraSyndrome #EHMT1 #RareDisease #RareDiseaseResearch #NeurodevelopmentalDisorders #GeneticDisorders #PatientAdvocacy #CaregiverSupport #FamilyLedResearch #RareDiseaseCommunity #PrecisionMedicine #Genomics #MedicalResearch #ClinicalResearch #TranslationalResearch #DiagnosticJourney #PatientSupport #ResearchFunding #InclusiveCare #PatientVoices #RareDiseaseAwareness

IDefine.org

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Philippe Pouletty, M.D., CEO of Truffle Capital and Founder of Carvolix, describes the evolution of heart valve replacement and the significance of AI-guided robotics in expanding access to transcatheter procedures. The company's biomimetic mitral valve and AI software that guides valve placement using a mini robot are making these procedures safer and easier for less experienced cardiologists to perform. The technology is also being adapted to treat brain strokes by enabling a larger pool of cardiologists to quickly perform necessary interventions.

Philippe explains, "At Truffle Capital, are what we like to call ourselves Business Builders, which is to say we're not just going to start small companies, we are going to try and build world leaders to revolutionize medicine. For Carvolix, this means interventional cardiology as well as the treatment of brain strokes. As you know, replacing heart valves is a major medical need. We have four heart valves that open and close 50 to 100 times per minute, which can get calcified and dysfunctional with time and need replacement. So 40 years ago, you would go to a skilled surgeon who would say, "Okay, I'm going to open your chest. I'm going to stop your heart, and I'm going to sew a new valve."

"But recently we decided to lead the new revolution, which is a small robot based on artificial intelligence, that could autonomously, under the clinical supervision of a cardiologist, replace a valve. We think that this new revolution is going to allow many more patients to benefit from aortic, mitral, and tricuspid valve replacement, even in smaller cardiac centers and among younger cardiologists. A similar revolution happened in the cockpit of Boeing and Airbus planes when the autopilot, the GPS systems, and satellite systems brought autonomy to planes."

#Carvolix #CardiacNews #PatientCare #HealthTech #Cardio #AIinHealthcare #InterventionalCardiology #StrokeCare #MedTechInnovation #RoboticsInMedicine #TAVI #Thrombectomy #DigitalHealth

Carvolix.eu

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Philippe Pouletty, M.D., CEO of Truffle Capital and Founder of Carvolix, describes the evolution of heart valve replacement and the significance of AI-guided robotics in expanding access to transcatheter procedures. The company's biomimetic mitral valve and AI software that guides valve placement using a mini robot are making these procedures safer and easier for less experienced cardiologists to perform. The technology is also being adapted to treat brain strokes by enabling a larger pool of cardiologists to quickly perform necessary interventions.

Philippe explains, "At Truffle Capital, are what we like to call ourselves Business Builders, which is to say we're not just going to start small companies, we are going to try and build world leaders to revolutionize medicine. For Carvolix, this means interventional cardiology as well as the treatment of brain strokes. As you know, replacing heart valves is a major medical need. We have four heart valves that open and close 50 to 100 times per minute, which can get calcified and dysfunctional with time and need replacement. So 40 years ago, you would go to a skilled surgeon who would say, "Okay, I'm going to open your chest. I'm going to stop your heart, and I'm going to sew a new valve."

"But recently we decided to lead the new revolution, which is a small robot based on artificial intelligence, that could autonomously, under the clinical supervision of a cardiologist, replace a valve. We think that this new revolution is going to allow many more patients to benefit from aortic, mitral, and tricuspid valve replacement, even in smaller cardiac centers and among younger cardiologists. A similar revolution happened in the cockpit of Boeing and Airbus planes when the autopilot, the GPS systems, and satellite systems brought autonomy to planes."

#Carvolix #CardiacNews #PatientCare #HealthTech #Cardio #AIinHealthcare #InterventionalCardiology #StrokeCare #MedTechInnovation #RoboticsInMedicine #TAVI #Thrombectomy #DigitalHealth

Carvolix.eu

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Colin Lawlor, CEO of Sleep ai, is focused on exploring sleep intelligence and sleep as a vital sign of health. The Sleep ai platform measures sleep longitudinally using data from consumer wearables and smartphones, with an emphasis on night-to-night variability, which is not captured in a single-night sleep lab. Poor sleep and variation in sleep patterns have been identified as highly predictive indicators of over 130 chronic diseases and have an impact on mental well-being and the effectiveness of medical treatments.

Colin explains, "What we're doing is we're measuring sleep longitudinally, over the long term, and we're measuring it from whatever device the consumer has. For some consumers or patients, it may be wearable, and there are many, many different wearables, or for others, it's simply from their phone. We have the ability to collect high-quality sleep data from everyone every day. And that's really important because when we get into this, we'll talk about why longitudinal measurement is really helpful in dealing with sleep challenges themselves, but also in seeing sleep as a window into literally everything to do with our health."

"There are several factors going on here. The first one is that globally, four billion people wake up tired almost every day. We do not have, and we will never have, a sufficient number of sleep labs to send all of them for a one-night study. And if we collect data for only one night, we're only getting one picture of how that person is sleeping. But as we all know, life gets in the way. We may have had a stressful day, or we may have had an argument with our significant other. We may be suffering from a cold."

"Whatever it is, all of these multiple factors influence sleep. So if we over-rely on one data point to understand what's going on, it's just not sufficient. So what we are finding is that, actually, the variance night to night is probably the most useful and insightful thing we can see. Because when we look at the variance across many nights, we have a much more accurate picture of what's happening with the person's sleep, and that's highly predictive of many, many other conditions, issues, and challenges."

#SleepAI #DigitalHealth #SleepAsAVitalSign #ChronicDisease #PopulationHealth #AIinHealthcare #Wearables #LongitudinalData #SleepHealth, #SleepScience

sleep.ai

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Colin Lawlor, CEO of Sleep ai, is focused on exploring sleep intelligence and sleep as a vital sign of health. The Sleep ai platform measures sleep longitudinally using data from consumer wearables and smartphones, with an emphasis on night-to-night variability, which is not captured in a single-night sleep lab. Poor sleep and variation in sleep patterns have been identified as highly predictive indicators of over 130 chronic diseases and have an impact on mental well-being and the effectiveness of medical treatments.

Colin explains, "What we're doing is we're measuring sleep longitudinally, over the long term, and we're measuring it from whatever device the consumer has. For some consumers or patients, it may be wearable, and there are many, many different wearables, or for others, it's simply from their phone. We have the ability to collect high-quality sleep data from everyone every day. And that's really important because when we get into this, we'll talk about why longitudinal measurement is really helpful in dealing with sleep challenges themselves, but also in seeing sleep as a window into literally everything to do with our health."

"There are several factors going on here. The first one is that globally, four billion people wake up tired almost every day. We do not have, and we will never have, a sufficient number of sleep labs to send all of them for a one-night study. And if we collect data for only one night, we're only getting one picture of how that person is sleeping. But as we all know, life gets in the way. We may have had a stressful day, or we may have had an argument with our significant other. We may be suffering from a cold."

"Whatever it is, all of these multiple factors influence sleep. So if we over-rely on one data point to understand what's going on, it's just not sufficient. So what we are finding is that, actually, the variance night to night is probably the most useful and insightful thing we can see. Because when we look at the variance across many nights, we have a much more accurate picture of what's happening with the person's sleep, and that's highly predictive of many, many other conditions, issues, and challenges."

#SleepAI #DigitalHealth #SleepAsAVitalSign #ChronicDisease #PopulationHealth #AIinHealthcare #Wearables #LongitudinalData #SleepHealth, #SleepScience

sleep.ai

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Zach Wood, Chief Product and Strategy Officer at Artera, and Meg Jackson, Director of IT for Beauregard Health Systems, join to discuss patient engagement in a rural healthcare setting that previously relied on minimal patient communication, relying on phone calls. The introduction of two-way texting has increased patient engagement, streamlined appointment scheduling, and improved medication adherence. In communities with fewer landlines and limited broadband and computers, this secure texting solution is easy to use and available on patients' mobile devices for convenient access and an effective way to supplement in person care.

Zach explains, "Artera works with a very broad set of provider organizations, ranging from specialty clinics to health systems to even federal agencies. We have about a thousand customers that we serve and have organizations like Beauregard that partner with us very closely in rural environments."

Meg elaborates, "We may have had some phone calls going out to patients before Artera, but no text reminder. So this was a brand new world for us. We wanted to bring more to the text message, to the patient on their personal devices. We live in a rural area, so maybe broadband is less accessible in our area. So we were trying to bring something to their devices for the patient."

"Well, everyone today has a cell phone. Not everyone has a computer. A lot of people don't even have home phones anymore. So we wanted to get that as a text message to the patient, where they could just respond to it. The beauty of Artera, which first drew me to Artera, was the two-way communication. The patient can initiate the conversation without ever having been a patient here before. They can text the main number of our facility and start a conversation, and we can even have different rules set up on the Artera side, where it could trigger a certain conversation based on the patient's keywords. So that really empowers us to make it more customizable for our patient communication."

#Artera #BeauregardHealthSystem #DrFirst #EmpoweredPatient #MedicationAdherence #HealthEquity #RuralHealth #HealthcareInnovation #PatientEngagement #DigitalHealth #RuralHealth #PatientExperience #HealthIT #SecureMessaging

Artera.io

Beauregard.org

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Zach Wood, Chief Product and Strategy Officer at Artera, and Meg Jackson, Director of IT for Beauregard Health Systems, join to discuss patient engagement in a rural healthcare setting that previously relied on minimal patient communication, relying on phone calls. The introduction of two-way texting has increased patient engagement, streamlined appointment scheduling, and improved medication adherence. In communities with fewer landlines and limited broadband and computers, this secure texting solution is easy to use and available on patients' mobile devices for convenient access and an effective way to supplement in person care.

Zach explains, "Artera works with a very broad set of provider organizations, ranging from specialty clinics to health systems to even federal agencies. We have about a thousand customers that we serve and have organizations like Beauregard that partner with us very closely in rural environments."

Meg elaborates, "We may have had some phone calls going out to patients before Artera, but no text reminder. So this was a brand new world for us. We wanted to bring more to the text message, to the patient on their personal devices. We live in a rural area, so maybe broadband is less accessible in our area. So we were trying to bring something to their devices for the patient."

"Well, everyone today has a cell phone. Not everyone has a computer. A lot of people don't even have home phones anymore. So we wanted to get that as a text message to the patient, where they could just respond to it. The beauty of Artera, which first drew me to Artera, was the two-way communication. The patient can initiate the conversation without ever having been a patient here before. They can text the main number of our facility and start a conversation, and we can even have different rules set up on the Artera side, where it could trigger a certain conversation based on the patient's keywords. So that really empowers us to make it more customizable for our patient communication."

#Artera #BeauregardHealthSystem #DrFirst #EmpoweredPatient #MedicationAdherence #HealthEquity #RuralHealth #HealthcareInnovation #PatientEngagement #DigitalHealth #RuralHealth #PatientExperience #HealthIT #SecureMessaging

Artera.io

Beauregard.org

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John D'Alesandro, a healthcare operations guru, Amplefi stresses that generally, healthcare operations do not suffer from a lack of staff or technology but from a failure to properly define goals and understand healthcare as a complex system. The reliance on outdated processes and the misapplication of technology has led to the introduction of AI into the environment without first addressing foundational system flaws. He advocates for a simpler, common-sense approach rather than platitudes about patient safety, ensuring that AI models are not trained on inaccurate data from broken systems or undocumented workarounds.

John asks, "What is healthcare? Well, healthcare is a ton of things. What is the patient experience? Well, depends on the patient. So when we use these generic terms, they tend to cloud the performance of the system. So I think the first place we need to start is to say something like, " What's an ER experience that we're proud of?" If it's four hours, then it's four hours. But if it's longer or shorter than that, we need targets and reference models to know what we're doing, because we're adding a lot of things and a lot of complexity. We're not really realizing that those are systems. Those systems, when they produce friction, get hit on the frontline. The front lines have to deal with vague, unclear expectations."

"Patient experience isn't smiling. It's delivering your care in a reliable way. People get frustrated because they sit around waiting and wondering what the heck's going on. So I think just spending a little bit of time defining everything in your hospital, because every hospital's different."

#Amplefi #DigitalHealth #PatientExperience #HealthcareInnovation #ConnectedHealth #PrecisionMedicine #HealthcareOperations #WorkflowDesign#OperationalExcellence #HealthcareSystems #FixTheProcess #BeforeCareBreaks #StructureMatters #ProcessOverTools #StopScalingChaos #HealthcareOperations #HospitalWorkflow #ClinicianBurnout #HealthSystems #AIinHealthcare #Telehealth #CareCoordination

amplefi.com

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John D'Alesandro, a healthcare operations guru, Amplefi stresses that generally, healthcare operations do not suffer from a lack of staff or technology but from a failure to properly define goals and understand healthcare as a complex system. The reliance on outdated processes and the misapplication of technology has led to the introduction of AI into the environment without first addressing foundational system flaws. He advocates for a simpler, common-sense approach rather than platitudes about patient safety, ensuring that AI models are not trained on inaccurate data from broken systems or undocumented workarounds.

John asks, "What is healthcare? Well, healthcare is a ton of things. What is the patient experience? Well, depends on the patient. So when we use these generic terms, they tend to cloud the performance of the system. So I think the first place we need to start is to say something like, " What's an ER experience that we're proud of?" If it's four hours, then it's four hours. But if it's longer or shorter than that, we need targets and reference models to know what we're doing, because we're adding a lot of things and a lot of complexity. We're not really realizing that those are systems. Those systems, when they produce friction, get hit on the frontline. The front lines have to deal with vague, unclear expectations."

"Patient experience isn't smiling. It's delivering your care in a reliable way. People get frustrated because they sit around waiting and wondering what the heck's going on. So I think just spending a little bit of time defining everything in your hospital, because every hospital's different."

#Amplefi #DigitalHealth #PatientExperience #HealthcareInnovation #ConnectedHealth #PrecisionMedicine #HealthcareOperations #WorkflowDesign#OperationalExcellence #HealthcareSystems #FixTheProcess #BeforeCareBreaks #StructureMatters #ProcessOverTools #StopScalingChaos #HealthcareOperations #HospitalWorkflow #ClinicianBurnout #HealthSystems #AIinHealthcare #Telehealth #CareCoordination

amplefi.com

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