Empowered Patient Podcast

Karen Chen is the Chief Executive Officer of the Spinal Muscular Atrophy Foundation. With a background in drug development having worked in pharma and biotech in neurodegenerative diseases like Alzheimer's and Parkinson's, Karen brings a deep understanding of the value of treating rare diseases that are genetically defined.

Karen explains, "The foundation is a little unusual as far as a nonprofit because we are really focused on our sole mission, which is to accelerate the development of treatments for SMA. And unlike other organizations, we're really not focused on raising awareness or raising funds as much as some of our sister SMA nonprofits. So we have really partnered with biotech and pharmaceutical companies to develop drugs for SMA. And SMA is one of the leading genetic causes of death in young children. It's actually the leading genetic killer of children."

"So even though there are three types, four if you include the adult form of SMA, it's all caused by the same underlying missing gene. The differences in severity are really a result of this backup gene that I talked about, SMN2."

#SMA #SpinalMuscularAtrophy #RareDisease #SMN2 #Evrysdi #Spinraza #Genentech #Biogen #SMAAwarenessMonth

SMAFoundation.org

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Karen Chen is the Chief Executive Officer of the Spinal Muscular Atrophy Foundation. With a background in drug development having worked in pharma and biotech in neurodegenerative diseases like Alzheimer's and Parkinson's, Karen brings a deep understanding of the value of treating rare diseases that are genetically defined.

Karen explains, "The foundation is a little unusual as far as a nonprofit because we are really focused on our sole mission, which is to accelerate the development of treatments for SMA. And unlike other organizations, we're really not focused on raising awareness or raising funds as much as some of our sister SMA nonprofits. So we have really partnered with biotech and pharmaceutical companies to develop drugs for SMA. And SMA is one of the leading genetic causes of death in young children. It's actually the leading genetic killer of children."

"So even though there are three types, four if you include the adult form of SMA, it's all caused by the same underlying missing gene. The differences in severity are really a result of this backup gene that I talked about, SMN2."

#SMA #SpinalMuscularAtrophy #RareDisease #SMN2 #Evrysdi #Spinraza #Genentech #Biogen #SMAAwarenessMonth

SMAFoundation.org

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Sanjay Shukla is the President and CEO of aTyr Pharma, focusing on the extracellular functionality and signaling pathways of tRNA synthetases. The lead clinical product candidate ATYR1923 is a potential disease-modifying therapy for patients with severe inflammatory lung diseases, including interstitial lung disease pulmonary sarcoidosis.

Sanjay explains, "Dr. Schimmel, for many years, has been really interested in an enzyme in all of our bodies called tRNA synthetases. These are basic building block enzymes that help us make proteins. They work inside the cell by shepherding an amino acid to a tRNA, and this, in turn, helps us make proteins. For many years, it was thought to be a kind of well-understood class of enzymes."

"Dr. Schimmel discovered, and he published this in both Science and Nature papers about 12 years ago, was for some reason these enzymes break apart into fragments. Those fragments migrate out of the cell, and they travel to different tissues and organ systems in our bodies, and there they play a very different role, a nonenzymatic role. In fact, they are mostly involved in controlling local immune environments. So our job at aTyr is to really look at this new protein class of therapeutics and determine where they might best fit in helping patients and different disease pathways."

#aTyrPharma #PulmonarySarcoidosis #ILD #Cancer #Immunology #RareDisease #tRNA #Bispecificantibody $LIFE

aTyrPharma.com

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Sanjay Shukla is the President and CEO of aTyr Pharma, focusing on the extracellular functionality and signaling pathways of tRNA synthetases. The lead clinical product candidate ATYR1923 is a potential disease-modifying therapy for patients with severe inflammatory lung diseases, including interstitial lung disease pulmonary sarcoidosis.

Sanjay explains, "Dr. Schimmel, for many years, has been really interested in an enzyme in all of our bodies called tRNA synthetases. These are basic building block enzymes that help us make proteins. They work inside the cell by shepherding an amino acid to a tRNA, and this, in turn, helps us make proteins. For many years, it was thought to be a kind of well-understood class of enzymes."

"Dr. Schimmel discovered, and he published this in both Science and Nature papers about 12 years ago, was for some reason these enzymes break apart into fragments. Those fragments migrate out of the cell, and they travel to different tissues and organ systems in our bodies, and there they play a very different role, a nonenzymatic role. In fact, they are mostly involved in controlling local immune environments. So our job at aTyr is to really look at this new protein class of therapeutics and determine where they might best fit in helping patients and different disease pathways."

#aTyrPharma #PulmonarySarcoidosis #ILD #Cancer #Immunology #raredisease #tRNA #Bispecificantibody $LIFE

aTyrPharma.com

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Dr. Elizabeth Marshall is the Director of Clinical Analytics at Linguamatics an IQVIA company, where she is responsible for clinical oversight of all healthcare projects with a focus on the application of Natural Language Processing in drug development and healthcare. NLP is a type of artificial intelligence that is concerned with the interaction between computers and human language with an ability to find linguistic patterns in unstructured data.

Liz says, "I commonly work with teams of people that don't always understand the subject matter. There was one time when I was told certain corpora of patients' data had no mention of pain, which as a physician immediately made me suspicious, and a red flag."

"So I dug a little deeper into the data and found the data came from rheumatology. So I knew there had to be some abbreviation or something. Something was missing. For some reason, this group decided to abbreviate pain as PX, which is not a common way of abbreviating it. So, we changed the algorithm, and as you can imagine, the pain was everywhere in the records."

@Linguamatics #NaturalLanguageProcessing #NLP #ML #MachineLearning #AI #ArtificialIntelligence #ClinicalTrials #DrugDevelopment #SDOH #EHR

Linguamatics.com

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Dr. Elizabeth Marshall is the Director of Clinical Analytics at Linguamatics an IQVIA company, where she is responsible for clinical oversight of all healthcare projects with a focus on the application of Natural Language Processing in drug development and healthcare. NLP is a type of artificial intelligence that is concerned with the interaction between computers and human language with an ability to find linguistic patterns in unstructured data.

Liz says, "I commonly work with teams of people that don't always understand the subject matter. There was one time when I was told certain corpora of patients' data had no mention of pain, which as a physician immediately made me suspicious, and a red flag."

"So I dug a little deeper into the data and found the data came from rheumatology. So I knew there had to be some abbreviation or something. Something was missing. For some reason, this group decided to abbreviate pain as PX, which is not a common way of abbreviating it. So, we changed the algorithm, and as you can imagine, the pain was everywhere in the records."

@Linguamatics #NaturalLanguageProcessing #NLP #ML #MachineLearning #AI #ArtificialIntelligence #ClinicalTrials #DrugDevelopment #SDOH #EHR

Linguamatics.com

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Dan Temple is a patient advocate for those with Spinal Muscular Atrophy (SMA) and he shares his treatment journey and actions he has taken to raise awareness about SMA. We also talk about the drug treatments that have come onto the scene since he was first diagnosed when Dan was 2 years old. He is now 49.

Dan says, "Like I said, very important was that my lung function improved. I probably gained about ten years back from what I lost. I'm still on a feeding tube, but I couldn't eat by mouth for seven years, and the drugs helped my muscles start working better. So I can eat and drink by mouth a little bit. I don't do it a lot, but it's nice to be able to do it occasionally and have some food that I enjoy. And my hand, of course. The one finger I have is kept pretty strong. Thank God because if I lose that, I've got nothing."

"In general, it's kept me from getting worse, and when the drugs came along, I was at the point health-wise where I probably didn't have a lot of time left. My lungs were getting so weak that I was going to have to be on a respirator soon. So, basically, the Spinraza and Evrysdi both saved my life and gave me another 20 years, probably."

#SMA #SpinalMuscularAtrophy #RareDisease #Evrysdi #Spinraza #MDA #MuscularDystrophyAssociation #PatientAdvocate #Genentech #Biogen #SMAAwarenessMonth

Dan Temple is a patient advocate for those with Spinal Muscular Atrophy (SMA) and he shares his treatment journey and actions he has taken to raise awareness about SMA. We also talk about the drug treatments that have come onto the scene since he was first diagnosed when Dan was 2 years old. He is now 49.

Dan says, "Like I said, very important was that my lung function improved. I probably gained about ten years back from what I lost. I'm still on a feeding tube, but I couldn't eat by mouth for seven years, and the drugs helped my muscles start working better. So I can eat and drink by mouth a little bit. I don't do it a lot, but it's nice to be able to do it occasionally and have some food that I enjoy. And my hand, of course. The one finger I have is kept pretty strong. Thank God because if I lose that, I've got nothing."

"In general, it's kept me from getting worse, and when the drugs came along, I was at the point health-wise where I probably didn't have a lot of time left. My lungs were getting so weak that I was going to have to be on a respirator soon. So, basically, the Spinraza and Evrysdi both saved my life and gave me another 20 years, probably."

#SMA #SpinalMuscularAtrophy #RareDisease #Evrysdi #Spinraza #MDA #MuscularDystrophyAssociation #PatientAdvocate #Genentech #Biogen #SMAAwarenessMonth

Professor Florian Solzbacher is the Co-Founder and Chairman of Blackrock Neurotech and is focused on expanding the options, understanding, and marketing of brain computer interfaces and neuro devices.

I asked Florian about their new project underway with Northwestern University and DARPA called the NTRAIN Project. He said, "The key driving force behind that project is to try and help counter the effects of jet lag and dysfunctions in the circadian rhythm. All those of us who have been traveling internationally a lot will know that it usually takes you a few days to adjust your inner clock to a different time zone that you're in."

"What has been shown in initial research is that there are ways to help adjust the internal clock by essentially generating some of those same peptides that regulate our circadian rhythm. Then releasing them into the bloodstream on demand essentially sends clear clock signals through the body that allow you to adjust faster than you normally would."

@BlackrockMicro #innovation #Neuroscience #Neurotechnology #BCI #Technology #Neurotech #RestoringFunction #TouchAgain #FeelAgain #TalkAgain #MoveAgain #BCIPioneer #braincomputerinterface #Research

BlackrockNeurotech.com

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Professor Florian Solzbacher is the Co-Founder and Chairman of Blackrock Neurotech and is focused on expanding the options, understanding, and marketing of brain computer interfaces and neuro devices.

I asked Florian about their new project underway with Northwestern University and DARPA called the NTRAIN Project. He said, "The key driving force behind that project is to try and help counter the effects of jet lag and dysfunctions in the circadian rhythm. All those of us who have been traveling internationally a lot will know that it usually takes you a few days to adjust your inner clock to a different time zone that you're in."

"What has been shown in initial research is that there are ways to help adjust the internal clock by essentially generating some of those same peptides that regulate our circadian rhythm. Then releasing them into the bloodstream on demand essentially sends clear clock signals through the body that allow you to adjust faster than you normally would."

@BlackrockMicro #innovation #Neuroscience #Neurotechnology #BCI #Technology #Neurotech #RestoringFunction #TouchAgain #FeelAgain #TalkAgain #MoveAgain #BCIPioneer #braincomputerinterface #Research

BlackrockNeurotech.com

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