How One Patient Organization Leverages Research Investments

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How to Be a Better Human

1
Throwing good parties and building community (w/ Priya Parker) 38:16

לפני 22 weeks38:16

הפעל מאוחר יותר

רשימות

לייק

אהבתי

38:16

Many of us are entering the new year with a similar goal — to build community and connect more with others. To kick off season five, Priya Parker shares ideas on how to be the host with the most. An expert on building connection, Priya is the author of “The Art of Gathering: How We Meet and Why It Matters.” Whether it's a book club, wedding, birthday or niche-and-obscurely themed party, Priya and Chris talk about how to create meaningful and fun experiences for all of your guests — including yourself. For the full text transcript, visit go.ted.com/BHTranscripts . For the full text transcript, visit go.ted.com/BHTranscripts Want to help shape TED’s shows going forward? Fill out our survey here ! Learn more about TED Next at ted.com/futureyou Hosted on Acast. See acast.com/privacy for more information.…

לפני שנה 29:05

MP3•בית הפרקים

Tuberous sclerosis complex is a genetic disorder that is characterized by tumor growth in various organs in the body, as well as neurological effects. Most people with TSC experience epilepsy early in life and many develop autism or other neuropsychiatric issues. The TSC Alliance has invested more than $37 million in research since 1984. Its efforts and collaborations have resulted in six U.S. Food and Drug Administration approved treatments for some aspects of the disease or related conditions. We spoke to Steve Roberds, chief scientific officer of the TSC Alliance, about the organization's success with crafting a research agenda, how it’s been able to invest in ways that catalyze research, and what it’s done to facilitate drug development by industry.

547 פרקים

#Health Industry #Business #Health Care #Rare Disease #RARECast #Health and Well-Being

How One Patient Organization Leverages Research Investments

RARECast

28 subscribers

published לפני שנה

שתפו

MP3•בית הפרקים

547 פרקים

#Health Industry #Business #Health Care #Rare Disease #RARECast #Health and Well-Being

כל הפרקים

1
A Gene Editing First Augurs an Era of Bespoke Therapies 41:28

לפני 6 ימים41:28

41:28

In a medical first, a team at Children’s Hospital of Philadelphia and Penn Medicine has successfully treated an infant diagnosed with a rare genetic disorder by using a customized CRISPR gene editing therapy. The work, led by Penn Medicine’s Kiran Musunuru and CHOP’s Rebecca Ahrens-Nicklas, points to the potential to use bespoke gene editing therapies to treat others with rare genetic diseases for which no available medicines exist. We spoke to P.J. Brooks, deputy director of the Office of Rare Disease Research at the National Institutes of Health’s National Center for Advancing Translational Sciences, about the breakthrough treatment, how the researchers were able to move from diagnosis to treatment with great speed, and what it would take to scale such an approach.…

1
How One Patient Organization Drives Drug Development 49:19

לפני 13 ימים49:19

49:19

The Children’s Tumor Foundation has been effective in working with drug developers to advance new therapies for neurofibromatosis, a group of rare, genetic conditions that cause tumors to grow on nerves throughout the body. Part of its success has been its ability to get biopharmaceutical companies to reposition assets once in development for other conditions as potential treatments for neurofibromatosis. We spoke to Annette Bakker, CEO of the Children's Tumor Foundation, about the complexities of neurofibromatosis, the foundation's role in advancing research and drug development, and what other patient organizations can learn from its strategic approach.…

1
Using CRISPR to Modulate Gene Expression 26:10

לפני 20 ימים26:10

26:10

Epicrispr Biotechnologies is using CRISPR to modulate the expression of disease-causing genes without making cuts to DNA. Its lead program is in development to treat FSHD, a genetic disorder that causes progressive weakness in the muscles of the face, shoulders, and upper arms. We spoke to Amber Salzman, CEO of Epicrispr, about how its one-and-done therapies work to target the epigenome, the company’s lead program in FSHD, and the broader applications for its therapeutic approach.…

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Satisfying the Hunger for a Prader-Willi Therapy 20:14

לפני 27 ימים20:14

20:14

One of the hallmarks of the rare genetic disorder Prader-Willi syndrome is hyperphagia, an insatiable desire to eat. Households with someone with Prader-Willi syndrome often have to take measures to restrict access to food, such as locking refrigerators, pantries, and trash cans. They must also deal with the complex behavioral challenges associated with the condition. Earlier this year, Soleno Therapeutics won approval for VykatXR, the first FDA-approved therapy for treating hyperphagia. We spoke to Anish Bhatnagar, CEO of Soleno Therapeutics, about Prader-Willi syndrome, its therapy to treat the condition, and the significance of having a medicine that can address hyperphagia associated with the disorder.…

1
How an Academic Medical Center Helped Change the Landscape for a Rare Disease 22:50

לפני 5 weeks22:50

22:50

CTX is a rare metabolic disease that can cause seizures, developmental delays, and intellectual disability. Now, a diagnostic test that can detect the condition early is available, and a treatment that can prevent the disease's serious effects has won regulatory approval. We spoke to Bart Duell, professor of medicine at Oregon Health Sciences University, about CTX, the role OHSU played in developing a diagnostic and advancing a treatment for CTX; and the critical interplay between academic medical centers, patient advocates, and drug developers to address the needs of people with rare diseases.…

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Improving Outcomes for People with a Set of Rare Cancers 22:09

לפני 6 weeks22:09

22:09

Biliary tract cancers are a group of rare cancers with limited treatment options and generally poor outcomes because most patients are diagnosed at an advanced stage. There are efforts to address that through the development of early detection tools. And the use of biomarker testing can today match as many as half of these patients to a targeted therapy, although it’s critical to make people aware of the importance of this. We spoke to Rachna Shroff, associate director of clinical investigations of the gastrointestinal clinical research team at the University of Arizona Cancer Center, about biliary tract cancers, the importance of biomarker testing, and what can be done to improve outcomes for people with these rare cancers.…

1
An Effort to Build a Better DMD Gene Therapy 27:32

לפני 7 weeks27:32

27:32

Drug development activities focused on the rare, neuromuscular condition Duchenne muscular dystrophy have translated into functional improvements and an extension of life expectancy. Regenxbio is among several companies pursuing a gene therapy to treat Duchenne. Regenxbio believes both its microdystrophin—a truncated form of the dystrophin gene small enough to fit in a vector—and the vector it is using, give it a competitive advantage over other efforts. We spoke Curran Simpson, CEO of Regenxbio, about the company’s platform technology, the advantages he sees with its experimental DMD gene therapy, and how a partnership announced at the start of 2025 focused on a pair of other gene therapies provided a welcome alternative to tapping the capital markets.…

1
A Once-Failed Pain Therapy Shows Potential in a Neurodevelopmental Disorder 32:48

לפני 8 weeks32:48

32:48

GRIN-related disorders are a group of rare neurodevelopmental conditions that can cause intellectual disability, behavioral challenges, and seizures. GRIN Therapeutics is developing a once-failed development candidate for chronic neuropathic pain, known as radiprodil, as a potential treatment for GRIN-related disorders driven by gain-of-function mutations. We spoke to Bruce Leuchter, president and CEO of GRIN Therapeutics, about GRIN-related disorders, how the company came to develop radiprodil, and how it represents an effort by Neurvati Neurosciences to bring a portfolio approach to developing novel treatments for neurological and psychiatric disorders.…

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Advancing a Cutting-Edge Therapy for a Rare, Childhood Cancer 25:12

לפני 9 weeks25:12

25:12

Osteosarcoma is a rare and aggressive bone cancer that usually affects children and teenagers. Over the past 40 years, there’s been little progress to improve survival rates, with the five-year survival rate stagnant at about 60 to 70 percent for localized disease and 15 to 30 percent for metastatic osteosarcoma. OS Therapies is developing an experimental immunotherapy to treat certain osteosarcomas. We spoke to Paul Romness, president and CEO of OS Therapies, about why osteosarcomas have been difficult to treat, the company’s experimental therapy for the condition, and the promising results that have been seen to date.…

1
Learning to Take His Vitamins 29:50

לפני 10 weeks29:50

29:50

When Paul Biderman was born, he had trouble gaining weight. He grew sicker and, at about six months, he was diagnosed with the ultra-rare genetic disease abetalipoproteinemia, a condition that impairs a person’s ability to absorb fats and fat-soluble vitamins. The condition requires adherence to a strict diet and a regimen of daily vitamin supplementation, which he didn’t always follow. Now approaching 60, Biderman suffers from neuropathy in his lower limbs and is losing his eyesight. We spoke to Biderman, chief operating officer and patient liaison for the ABL+ Foundation, about living with ABL, the challenges of obtaining adequate nutrition, and the impact becoming a patient advocate has had on him.…

1
The First Treatment for a Rare Neurodegenerative Condition Awaits FDA Approval 24:16

לפני 11 weeks24:16

24:16

Spinocerebellar ataxia includes a group of rare, genetic, neurodegenerative disorders. People with the condition suffer from the loss of balance, coordination, and muscle control. As the condition progresses, people can lose the ability to walk and speak. There is no approved treatment for SCA, but Biohaven has applied to the U.S. Food and Drug Administration to begin marketing its experimental therapy troriluzole, which can normalize levels of glutamate, a key neurotransmitter implicated in the disease. We spoke to Melissa Beiner, senior medical director at Biohaven, about spinocerebellar ataxia, the company’s therapy under review at the FDA to treat the condition, and why it may have the potential to benefit a number of other neurological conditions as well.…

1
Engineering Skin Bacteria to Be Live Biotherapeutics 28:27

לפני 12 weeks28:27

28:27

Netherton syndrome is a rare and chronic skin condition. One in ten infants with the disease will die as a result of infections and related complications. Azitra has developed a platform for engineering bacteria that naturally colonize the skin to produce proteins with therapeutic benefits to treat Netherton syndrome and other conditions. We spoke to Travis Whitfill, co-founder and chief operating officer of Azitra, about Netherton syndrome, the company’s platform technology for engineering live biotherapeutic products, and why it takes more than simply inserting a gene into a desired bacteria to produce these treatments.…

1
Seeing the Gene and Cell Therapy Translational Divide as an Opportunity 33:58

לפני 13 weeks33:58

33:58

Emerging cell and gene therapies represent areas of great promise for people with rare, genetic diseases, but the translation gap for these medicines can leave them stalled at the lab. Mass General Brigham in 2022 launched the Gene and Cell Therapy Institute, a research hub dedicated to advancing gene and cell therapies for various diseases to bridge the divide between academic labs and clinical development of therapies. The institute brings together more than 500 researchers and clinicians and boasts unique assets, such as its RNA Therapeutics Core, which enable it to produce cutting-edge circular RNA on-site. We spoke to Nathan Yozwiak, head of research at the Mass General Brigham Gene andCell Therapy Institute, about the need it is seeking to address, how the institute operates, and what it might do to enable the development of bespoke therapies for ultra-rare diseases.…

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My Mother, Myself, and ALS 27:47

לפני 14 weeks27:47

27:47

Raziel Green lost both her mother and aunt to the rare neurodegenerative disease amyotrophic lateral sclerosis or ALS. But when Green, a runner, began experiencing muscle weakness and falls, doctors failed to recognize that she had a genetic form of the condition. Two years after she first sought care, she was diagnosed with the SOD1 form of the disease and enrolled in a clinical trial of what would become the antisense oligonucleotide Qalsody. We spoke to Green about her experience with ALS, her decision to enroll in a clinical trial, and her health more than eight years after her diagnosis.…

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From Immovable Object to Advocacy Force 24:11

לפני 15 weeks24:11

24:11

While traveling in Australia, Russ Walter was taken to the hospital and treated for heart palpitations. When he returned home, he soon lost the ability to walk. He was diagnosed with the rare autoimmune condition Guillian-Barre syndrome and spent three months in intensive care and rehabilitation. It would take nearly a year of physical therapy before he could walk again. We spoke to Walter, liaison and board member of the GBS-CIDP Foundation International, about his recovery from Guillian-Barre syndrome, the changing medical landscape for the condition, and why his experience led him to become a patient advocate…

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