Beste Exome podcaster (2024)

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Whole Exome Sequencing with Dahlia Attia-King: Rational Wellness Podcast 384 41:12

12d ago41:12

41:12

Dahlia Attia-King discusses Whole Exome Sequencing with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights Dahlia Attia-King is the Founder and CEO of Panacea and s…

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Fuel Up with Dr. Dana Cohen: Rational Wellness Podcast 385 39:08

1d ago39:08

39:08

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A Gene Therapy Company Born from a Father’s Efforts to Save his Daughter 49:03

4d ago49:03

49:03

Noam Baumatz entered the world of gene therapy as a father in pursuit of a life-savings treatment for his daughter Noga, who was born with an ultra-rare immunodeficiency. Though she died before a treatment could be developed, Baumatz launched Noga Therapeutics to try to help others in the rare disease community. The company’s platform technology us…

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Lowering Barriers to Clinical Trial Participation with Do-It-Yourself Blood Sample Collection 26:54

11d ago26:54

26:54

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Scaling N-of-1 Therapies to Viability 31:32

18d ago31:32

31:32

The work of Boston Children’s Hospital’s Timothy Yu to develop a customized antisense oligonucleotide to treat Mila, a child with an ultra-rare neurodegenerative disease, created much excitement for the potential of N-of-1 therapies. Julia Vitarello, Mila’s mother, has talked about going from Mila to millions and co-founded EveryONE Medicines to en…

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Hashimoto's Thyroiditis with Lara Zakaria: Rational Wellness Pocast 383 52:36

19d ago52:36

52:36

View the Show Notes For This Episode Lara Zakaria discusses Hashimoto's Thyroiditis with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights In this extensive and in…

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Demystifying LPS with Dr. Tom O'Bryan: Rational Wellness Podcast 382 1:31:20

22d ago1:31:20

1:31:20

View the Show Notes For This Episode Dr. Tom O'Bryan discusses Demystifying LPS with moderator Dr. Ben Weitz at the Functional Medicine Discussion Group meeting on September 24, 2024. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video ver…

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Building Gene Therapies that Address Gain and Loss of Function Simultaneously 40:08

25d ago40:08

40:08

For some genetic diseases, there is not only the need to replace the function of a gene that is lost, but to also address toxicities that a mutated gene may cause. There is currently no available treatment targeting diseases that result from both loss and gain of function mutations. NGGT uses dual-functional vectors to simultaneously remove harmful…

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How One Woman Climbed from Patient to Advocate 31:30

1M ago31:30

31:30

Allison Freedman was an avid hiker, mother of young twins, and had just completed an MBA when she began suffering from severe back and rib pain and overwhelming fatigue. Repeated visits to the doctor and medical testing left her without a diagnosis. As her pain worsened, imaging revealed she had multiple broken ribs and vertebrae. At 42, a bone mar…

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Avoiding UltraProcessed Foods with The Holistic Kids: Rational Wellness Podcast 381 43:08

1M ago43:08

43:08

View the Show Notes For This Episode The Holistic Kids discuss Avoiding Ultraprocessed Foods with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights The Holistic Ki…

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Fatty Liver Disease with Dr. Yousef Elyaman: Rational Wellness Podcast 380 1:03:16

1M ago1:03:16

1:03:16

View the Show Notes For This Episode Dr. Yousef Elyaman discusses Fatty Liver disease with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights Dr. Ben Weitz hosts a …

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Shortening the Diagnostic Odyssey 27:55

1M ago27:55

27:55

Despite advancements in genetic testing, people with rare diseases often face a prolonged diagnostic odyssey involving multiple physician visits and misdiagnoses. Genetic testing company GeneDX is working to shorten the path to a diagnosis by expanding access to sequencing, collaborating with researchers, and accumulating data to better understand …

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Making Exomes More Revealing 22:00

2M ago22:00

22:00

Standard exome sequencing, which maps the protein coding regions of the genome, will deliver a diagnosis of someone with a rare disease in about 35 percent of cases. Ambry Genetics' ExomeReveal seeks to improve the diagnostic yield of these tests by adding RNA analysis to exome testing. That can help resolve variants of uncertain significance in ab…

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Reflux with Dr. Steven Sandberg-Lewis: Rational Wellness Podcast 379 1:18:52

2M ago1:18:52

1:18:52

View the Show Notes For This Episode Dr. Steven Sandberg-Lewis discusses Reflux with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights Understanding Reflux: Expert…

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How One Patient Organization Catalyzed Drug Development 34:27

2M ago34:27

34:27

Monica Coenraads, the mother of a daughter with Rett Syndrome, has played a critical role in catalyzing development of therapies to treat the rare, neurological disease. She co-founded and served as director of research for the Rett Syndrome Research Foundation. She later founded and today serves as CEO of the Rett Syndrome Research Trust. Her work…

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Burning Mouth Syndrome with Dr. Susan Sklar: Rational Wellness Podcast 378 40:55

2M ago40:55

40:55

View the Show Notes For This Episode Dr. Susan Sklar discusses Burning Mouth Syndrome with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights Dr. Susan Sklar is a H…

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Enabling On-Demand Therapies 39:56

2M ago39:56

39:56

Earlier this year, the company gained attention when it reported that developed a customized antisense oligonucleotide to treat a boy with an ultra-rare neurodevelopmental disorder in a year’s time. The company is leveraging AI to develop oligonucleotide medicines on demand. We spoke to Chris Hart, co-founder, president and CEO of Creyon Bio; about…

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Coronary Artery Disease with Dr. Ben Weitz: Rational Wellness Podcast 377 1:29:22

2M ago1:29:22

1:29:22

View the Show Notes For This Episode Dr. Ben Weitz discusses Coronary Artery Disease at the Functional Medicine Discussion Group meeting on August 22, 2024. This was the first annual Dr. Howard Elkin Memorial Integrative Cardiology Lecture. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find Th…

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After Driving an N-of-1 Therapy for Her Son, an Advocate Turns to Helping Others 30:48

2M ago30:48

30:48

When Yiwei She’s son Leo was diagnosed with a severe neurodevelopmental condition, he was one of only two people known to have the ultra-rare disease. In a year, though, working with Creyon Bio, the family was able to move from the start of research for an ASO to treating Leo with the experimental therapy. We spoke to She, founder of the TNPO2 Foun…

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The TruAge Test of Biological Aging with Ryan Smith: Rational Wellness Podcast 376 52:45

2M ago52:45

52:45

View the Show Notes For This Episode Ryan Smith of TruDiagnostic discusses the Tru-Age Test of Biological Aging with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlig…

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Putting Rare Disease Organization in the Business of Drug Development 25:33

2M ago25:33

25:33

Rare disease patient organizations are increasingly driving the discovery and development of therapies to treat the conditions on which they are focused. Organizations are seeking ways to accelerate these programs and advance them to the point where a biopharmaceutical partner might be willing to take them over. DevineBio was created to partner wit…

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Oronasal Infections with Dr. Jamie Kunkle: Rational Wellness Podcast 375 55:18

3M ago55:18

55:18

View the Show Notes For This Episode Dr. Jamie Kunkle discusses Oronasal Infections with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights 4:00 Oronasal system. 6:…

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Understanding the Many Questions Gene Therapies Raise 31:02

3M ago31:02

31:02

Gene therapies have emerged as an important and growing area of medicine, but various players in the healthcare continuum are trying to understand the unique development, regulatory, and other issues surrounding this emerging modality. Avery McIntosh and Alex Sverdlov, both biostatisticians, have edited the new book “Development of Gene Therapies: …

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The Benefits of Medicinal Mushrooms with Lee Carroll: Rational Wellness Podcast 374 1:02:12

3M ago1:02:12

1:02:12

View the Show Notes For This Episode Lee Carroll discusses The Benefits of Medicinal Mushrooms with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights 3:00 The Scie…

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A Test to Identify People Likely to Develop ALS 46:30

3M ago46:30

46:30

Siblings and children of people with the rare, neurodegenerative disease amyotrophic lateral sclerosis are being offered a test in the United Kingdom at no-cost to see if they carry mutations to one of more than 40 genes that would make it likely for them to develop the condition. Sano Genetics developed the test under a grant from Innovate UK. The…

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The Hypothalamus, Pituitary, Adrenal, Thyroid axis with Alan Barrier: Rational Wellness Podcast 373 1:09:48

3M ago1:09:48

1:09:48

View the Show Notes For This Episode Alan Barrier discusses The Hypothalamus, Pituitary, Adrenal, Thyroid Axis with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highligh…

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How an Ultra-Rare Disease Patient Foundation Advanced a Gene Therapy 27:57

3M ago27:57

27:57

Multiple sulfatase deficiency is a rare and progressive neurodegenerative disease. The patient advocacy organization United MSD Foundation has been able to advance a gene therapy into preclinical development for the ultra-rare condition through modest investment by pursuing a focused research strategy and leveraging partnerships. In May 2023, The B…

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PANDAS and PANS with Dr. Jill Crista: Rational Wellness Podcast 372 56:03

3M ago56:03

56:03

View the Show Notes For This Episode Dr. Jill Crista discusses PANDAS and PANS with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights Dr. Jill Crista is a Naturopa…

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Making the $10 Genome a Reality 21:35

3M ago21:35

21:35

Despite the growing demand for genomic data and the falling price of genome sequencing, costs continue to restrain its use. Single Technologies, which is developing a three-dimensional approach to sequencing, believes it can cut the cost to just $10 per genome for consumables. That’s a drop from estimates of about $600 today. We spoke to Johan Strö…

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How To Get Into Your Best Shape with Fitness Trainer Brian Keane: Rational Wellness Podcast 371 48:31

3M ago48:31

48:31

View the Show Notes For This Episode Brian Keane discusses How to Get into Your Best Shape with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights Brian Keane is a …

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A No-Nonsense Effort to Develop a Therapy that Works Across Genetic Diseases 28:01

4M ago28:01

28:01

Nonsense mutations prematurely end the translation of a gene into protein and can result in a serious deficiency. About 10 to 15 percent of inherited genetic diseases involve nonsense mutations. Alltrna is developing transfer RNA therapies designed to correct the problem in protein synthesis caused by these aberrations. What’s particularly exciting…

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Lyme Disease with with Dr. Darin Ingels: Rational Wellness Podcast 370 1:16:08

4M ago1:16:08

1:16:08

View the Show Notes For This Episode Dr. Darin Ingels discusses Lyme Disease at the Functional Medicine Discussion Group meeting on June 27, 2024 with moderator Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on …

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Mapping a Perilous Journey with Humor 26:57

4M ago26:57

26:57

Effie Parks is well known in the rare disease community as both a patient advocate and host of the Once Upon a Gene podcast. Like many advocates, she was thrust into the world of rare diseases following the diagnosis of her son Ford with an ultra-rare neurodevelopmental disorder known as CTNNB1 syndrome. Recently she published a map of the journey …

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The Great Cholesterol Myth with Dr. Jonny Bowden: Rational Wellness Podcast 369 58:07

4M ago58:07

58:07

View the Show Notes For This Episode Dr. Jonny Bowden discusses The Great Cholesterol Myth with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights Dr. Jonny Bowden …

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Restoring Vision in Inherited Retinal Disease 21:54

4M ago21:54

21:54

Inherited retinal diseases are a group of genetic conditions that cause progressive and severe vision loss, such as retinitis pigmentosa, choroideremia, and Stargardt disease. Though they vary in terms of their genetic drivers, they are characterized by degeneration of photoreceptor cells in the retina. Collectively, inherited retinal diseases affe…

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Inflammatory Bowel Disease with Dr. Kim Crawford: Rational Wellness Podcast 368 1:12:06

4M ago1:12:06

1:12:06

View the Show Notes For This Episode Dr. Kim Crawford discusses Inflammatory Bowel Disease with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights 3:50 Bioidentical…

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Bringing Genome Sequencing to Rural Populations 27:51

4M ago27:51

27:51

For people in rural communities, access to genomic testing can require getting on a waitlist, delays in clinical assessment, and multiple visits to urban medical centers. A pilot study from Children’s Mercy Research Institute in Kansas City, Missouri, found that by partnering with a rural clinic in a direct-to-provider model it was able to more tha…

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Athletic Injury Prevention with LA Clippers head athletic trainer, Jasen Powell: Rational Wellness Podcast 367 54:16

4M ago54:16

54:16

View the Show Notes For This Episode Jasen Powell, head athletic trainer for the LA Clippers, discusses Injury Prevention with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podca…

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Addressing a Blind Spot in Treatments for the Cornea 23:20

5M ago23:20

23:20

The cornea is a transparent and multi-layered dome that sits at the front of the eye. It not only provides protection, but bends light to focus it on the retina. Many corneal diseases cause scarring that reduces the transparency of the cornea and results in the loss of vision. In fact, corneal diseases are a leading cause of blindness. Claris Bio i…

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Nutrient Density with Dr. Sarah Ballantyne: Rational Wellness Podcast 366 1:12:10

5M ago1:12:10

1:12:10

View the Show Notes For This Episode Dr. Sarah Ballantyne discusses Nutrient Density with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights 1:40 Nutrivore marks a …

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Taking a Different Approach to Rare Epilepsies 38:53

5M ago38:53

38:53

Lennox-Gastaut syndrome and Dravet syndrome are two rare, developmental and epileptic encephalopathies. Drug developers have sought to address epilepsies by altering the electrical activity in the brain. Ovid therapeutics, though, has taken a novel approach with its experimental therapy soticlestat by seeking to restore homeostasis to the brain. We…

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The Management of Constipation with Dr. Dipti Sagar: Rational Wellness Podcast 365 1:05:34

5M ago1:05:34

1:05:34

View the Show Notes For This Episode Dr. Dipti Sagar discusses The Management of Constipation at the Functional Medicine Discussion Group meeting on May 23, 2024 with moderator Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the v…

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A Rare Disease Drug Developer Tries to Earn Its Stripes 20:00

5M ago20:00

20:00

Zevra Therapeutics, formerly KemPharm, rebranded itself in early 2023 following the acquisition of the experimental therapy arimoclomol for the rare lysosomal storage disorder Niemann Pick disease type C. Zevra is Greek for “zebra,” a symbol of rare disease. The company subsequently built out its rare disease pipeline through the acquisition of Ace…

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A Holistic Cancer Strategy with Julie Stevens: Rational Wellness Podcast 364 46:47

5M ago46:47

46:47

View the Show Notes For This Episode Julie Stevens discusses A Holistic Cancer Strategy with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights 1:29 Cancer diagnosi…

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Using Plasma to Treat Rare Diseases 15:01

5M ago15:01

15:01

For certain rare diseases, therapies derived from human plasma, the largest component of blood, represent critical lifesaving and life-sustaining medicines. In many cases, it may represent the only therapeutic option. Takeda pharmaceutical’s Plasma-Derived Therapies Business Unit works across immunodeficiencies, neuroimmunology, hematology, pulmono…

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Integrative Cardiology with Dr. Trent Orfanos: Rational Wellness Podcast 363 52:09

5M ago52:09

52:09

View the Show Notes For This Episode Dr. Trent Orfanos discusses Integrative Cardiology with Dr. Ben Weitz. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights Dr. Trent Orfanos is…

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Differentiating Gene Therapies through Regulatory Elements 25:47

6M ago25:47

25:47

Encoded Therapeutics is developing gene therapies that can target any cell type that has a unique genetic profile. The company’s lead experimental therapy is in development for the epileptic encephalopathy Dravet syndrome, although the company expects to pursue metabolic, liver, and cardiovascular conditions in the future. We spoke to Salvador Rico…

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A Defense of Niacin with Dr. Howard Elkin: Rational Wellness Podcast 362 27:22

6M ago27:22

27:22

View the Show Notes For This Episode Dr. Howard Elkin and Dr. Ben Weitz defend the Therapeutic Use of Niacin. [If you enjoy this podcast, please give us a rating and review on Apple Podcasts, so more people will find The Rational Wellness Podcast. Also check out the video version on my WeitzChiro YouTube page.] Podcast Highlights 0:39 Niacin. The p…

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How One Patient Organization Leverages Research Investments 29:05

6M ago29:05

29:05

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 effort…

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Bioidentical Hormone Therapy with Dr. Maggie Ney: Rational Wellness Podcast 361 1:22:40

6M ago1:22:40

1:22:40

View the Show Notes For This Episode Dr. Maggie Ney discusses Bioidentical Hormone Therapy at the Functional Medicine Discussion Group meeting on April 25, 2024 with moderator Dr. Ben Weitz. Podcast Highlights 5:49 Women go through four basic hormonal stages: 1. Premenopause, 2. Perimenopause, 3. Menopause, and 4. Post-menopause. 7:08 Perimenopause…

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