최고 Rare In Common 팟캐스트 (2024)

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Episode 29 – “It’s not going to control my life:” Adapting to life with LEMS 21:39

2y ago21:39

21:39

In December 2019, Tescha left her job of 16 years as a physician’s assistant in the emergency room after facing difficulties with her recently diagnosed Lambert-Eaton myasthenic syndrome (LEMS), a rare autoimmune disease that attacks the connection between nerves and muscle cells. While living at home, Tescha saw an opportunity to reinvent herself …

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Episode 28 – #RareDiseaseTruth: how a hashtag is changing the conversation this Rare Disease Day 34:24

3y ago34:24

34:24

Approaching Rare Disease Day 2021, Neena Nizar, EdD, felt frustrated with the usual conversation around living with rare. Instead, she decided to start a different dialogue, sharing the hard truths of her condition. What followed was an outpouring of global support, with individuals from many rare disease communities coming together to share their …

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Episode 27 – “It’s working time”: building Sophie’s Neighborhood 34:38

3+ y ago34:38

34:38

In March 2020, after a year of battling what was assumed to be arthritis, 3-year-old Sophie Rosenberg was diagnosed with multicentric carpotarsal osteolysis (MCTO), a rare skeletal dysplasia. In spite of their initial shock, her parents Lauren and Hosea immediately tapped into their entrepreneurial roots, creating Sophie’s Neighborhood, an advocacy…

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Episode 26 – From diagnosis to network director—living with XLH 30:16

4y ago30:16

30:16

Diagnosed with X-linked hypophosphatemia (XLH), Susan has faced the challenges of living with this rare disease to become an advocate of the community and an influential force behind the XLH Network. The global community recently celebrated the second annual XLH Awareness Day on June 23, 2020.This episode is brought to you by Ultragenyx.…

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Episode 25 – What does COVID-19 mean for the rare disease community? 35:12

4y ago35:12

35:12

As a global community, we’re living through unprecedented times. But what does COVID-19 mean for people living with rare diseases? Neena Nizar and Seth Rotberg are rare disease advocates, both living with rare diseases themselves, and are here to provide some insight. In this episode, they discuss the impact of the pandemic, both in their present-d…

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Episode 24 – The promise of genetic testing in rare 27:24

4y ago27:24

27:24

Patients diagnosed with rare diseases likely have a lot of questions. Luckily, Joe Alaimo, our guest on this episode of the American College of Medical Genetics and Genomics (ACMG) series, can help answer them. Hear from Alaimo as he talks about the importance of genetic research in the rare disease space and advocates for patient education to prom…

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Episode 23 – Breaking through with interactive education in rare disease 24:23

4y ago24:23

24:23

When it comes to understanding rare disease, education is the first step. In this installment of the American College of Medical Genetics and Genomics (ACMG) series, our guest is Debra Regier, the director of genetics education at Children’s National Medical Center in Washington, DC. Listen as she discusses her methods in making education more effe…

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Episode 22 – Misdiagnosed: The importance of genetic testing 26:23

4y ago26:23

26:23

A diagnosis is supposed to bring patients answers, but what happens if that diagnosis is wrong? Meet Susie Perkowitz, a patient living with a rare form of diabetes who faces blindness due to 3 years of misdiagnoses and incorrect treatment. Listen as she and Toni Pollin, a geneticist focusing on monogenic diabetes research, explain the importance of…

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Episode 21 – From broad questions to exact answers 19:50

4+ y ago19:50

19:50

With gene therapies on the horizon, a diagnosis is more important than ever. In this installment of the American College of Medical Genetics and Genomics (ACMG) series, our guest Melanie O’Leary discusses the Rare Genomes Project and the goal to use whole genome sequencing technology to find answers for those with undiagnosed genetic diseases. List…

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Episode 20 – Taking back life by tackling diagnosis 18:04

4+ y ago18:04

18:04

In the world of rare disease, it can feel impossible to find a diagnosis, let alone a treatment. Onno Faber explains how his interest in science helped him when was diagnosed with a rare disease called neurofibromatosis type 2 (NF2). Listen as he talks about the importance of patient involvement and his dreams for the future of rare disease.…

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Episode 19 — Exploring transgenics—the forefront of genetic advancement in rare 19:11

5y ago19:11

19:11

Did you know that there are benefits to studying human genetic variants in worms or fish? In this fascinating chat recorded at the American College of Medical Genetics and Genomics (ACMG) annual meeting, Shula Jaron explains how transgenics give scientists a simpler way to study human disease genes and mutations in live organisms. You may be surpri…

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Episode 18 — Connecting the dots in the network of rare 34:01

5y ago34:01

34:01

In this episode recorded at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, hear from 2 experts in the field of genetics. First, Dr. George Diaz discusses his role as a medical geneticist and pediatrician, the value of connecting families affected by rare diseases, and the impact technological advancem…

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Episode 17 — The hope that comes with a name: the power of a diagnosis 25:25

5y ago25:25

25:25

For this third installment of the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting series, we sat down with Kim LeBlanc of the Undiagnosed Diseases Network (UDN). She walks us through how the UDN helps patients find answers, a diagnosis, and a community, as well as the hope a diagnosis can provide for those …

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Episode 16 — Voices of ACMG: On the floor at the 2019 annual meeting 24:39

5y ago24:39

24:39

In this special episode, join the Rare in Common team on the floor at the American College of Medical Genetics and Genomics (ACMG) annual meeting in Seattle. As the team walked around the conference, Andra had the opportunity to chat with members of the genetics community in attendance, from geneticists to genetic counselors to advocates. After spe…

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Episode 15 — The A, T, G, and C’s of genes: exploring genetics with Dr. Anthony Gregg 28:23

5y ago28:23

28:23

This episode is the first in a special series recorded live at the 2019 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Seattle. We had the honor of speaking with Dr. Anthony Gregg, the incoming president of ACMG, to get his perspective on what medical genetics brings to the practice of medicine. Dr. Gre…

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Episode 14 — “Beautifully heartbreaking”: one mom’s rare and incredible journey 27:02

5y ago27:02

27:02

From navigating her son Case’s rare diagnosis with the help of her own mother (and a medical diagnosis television show) to being honored at a global summit meeting for patient advocates almost a decade later, Melissa Hogan’s story is raw and riveting. She describes the reality of her son living with mucopolysaccaridosis II, or Hunter syndrome, as “…

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Episode 13 — Rare Disease Day: Looking back. Forging ahead 18:50

5y ago18:50

18:50

Rare Disease Day marks 1 year of creating Rare in Common podcasts! In honor of this special day, which is celebrated by the rare disease community around the world, we’ve created an episode that highlights some familiar voices from past podcasts and even puts host Andra Stratton in the “guest seat” to answer some important questions. At the 2018 Gl…

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Episode 12 — When all the stars align in the fight against ALL 38:37

5y ago38:37

38:37

When Eve Pallang felt a pain in her ribcage, she first brushed it off as muscle soreness from shoveling snow. The pain continued to spread so she went for an X-ray. The results were normal, but, fortunately, a doctor at the hospital advised her to go for more tests. Ultimately, she received the earth-shattering news that she had acute lymphoblastic…

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Episode 11 — “I got here because I asked for help”: coming together in rare 20:46

5+ y ago20:46

20:46

This episode is the third in a special series recorded live at the 7th annual Global Genes RARE Patient Advocacy Summit, the largest worldwide gathering of rare disease patients, advocates, and thought leaders. When Luke Rosen’s daughter Susannah was diagnosed with a rare, neurodegenerative disease called KIF1A-associated neurological disorder (KAN…

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Episode 10 — When a rare disease treatment fails approval, what happens next? 15:25

5+ y ago15:25

15:25

This episode is the second in a special series recorded live at the 7th annual Global Genes RARE Patient Advocacy Summit—and an important follow-up to Episode 4, “Taking on Rare as a Family,” in which Justin Hastings spoke about living with familial chylomicronemia syndrome (FCS). In August 2018, Waylivra® (volanesorsen sodium) was slated to receiv…

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Episode 9 — From physician to CEO; always a passion for rare 33:08

5+ y ago33:08

33:08

Rare disease is a specialized field. You may wonder how some doctors or executives choose this career path. While Dr. Ed Kaye started out caring for pediatric patients living with rare diseases, he moved into key leadership roles at biopharma companies that develop groundbreaking therapies to treat them. Dr. Kaye shares his unique industry perspect…

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Episode 8 — On location: Global Genes RARE Patient Advocacy Summit 22:10

5+ y ago22:10

22:10

This episode is the first in a special series recorded live at the 7th annual Global Genes RARE Patient Advocacy Summit—the largest worldwide gathering of rare disease patients, advocates, and thought leaders. First, Angie Rowe, Interim Executive Director of Global Genes, reflects on how exciting it is to spend time at the conference after all of h…

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Episode 7 — Blood brothers and sisters: the bond of hemophilia A 27:53

5+ y ago27:53

27:53

Episode 7 — Blood brothers and sisters: the bond of hemophilia A by Cambridge BioMarketing저자 Cambridge BioMarketing

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Episode 6 — Two rare: fighting Marfan and Ehlers-Danlos 36:36

5+ y ago36:36

36:36

Episode 6 — Two rare: fighting Marfan and Ehlers-Danlos by Cambridge BioMarketing저자 Cambridge BioMarketing

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Episode 5 — The power of siblinghood in rare 22:26

6y ago22:26

22:26

Gain a deeper understanding of Sturge-Weber syndrome by seeing it through the eyes of 13-year-old Olivia, whose younger brother, Jameson, has the rare neurological disorder. As they balance fun-filled times with the realities of living with a rare disease, these siblings share a bond that’s as powerful and pure as it gets.…

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Episode 4 — Taking on rare as a family 29:46

6y ago29:46

29:46

After a decade of frequent bouts of acute pancreatitis, including 30 hospitalizations and many painful episodes at home, it was Justin’s wife Naomi who helped lead their physician to a diagnosis of familial chylomicronemia syndrome (FCS).저자 Cambridge BioMarketing

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Episode 3 – Ehlers-Danlos and rare art 46:24

6y ago46:24

46:24

After years of misdiagnosis by physicians, Patty diagnosed her daughter’s Ehlers-Danlos syndrome through her own independent research. Since then, she’s worked tirelessly to advocate for the rare disease community, inspiring truly rare artwork along the way.저자 Cambridge BioMarketing

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Episode 2 – On trial 22:09

6y ago22:09

22:09

When two of Jenn’s children were diagnosed with Duchenne Muscular Dystrophy (DMD), it changed her life. Since then, she’s fought for access to clinical trials and new treatments and inspired others to join the cause along the way.저자 Cambridge BioMarketing

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Episode 1 – Hanging out with zebras 38:39

6y ago38:39

38:39

Those living with rare diseases refer to themselves as “zebras”. Janis is no exception. Her son Luke has a genetic mutation so rare it’s never been reported before. As her family works toward a diagnosis, she finds support among other zebras like her.저자 Cambridge BioMarketing

들어볼 가치가 있는 팟캐스트

Rare In Common 팟 캐스트

들어볼 가치가 있는 팟캐스트

1
Rare in Common: the podcast

Cambridge BioMarketing

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Episode 29 – “It’s not going to control my life:” Adapting to life with LEMS 21:39

1
Episode 28 – #RareDiseaseTruth: how a hashtag is changing the conversation this Rare Disease Day 34:24

1
Episode 27 – “It’s working time”: building Sophie’s Neighborhood 34:38

1
Episode 26 – From diagnosis to network director—living with XLH 30:16

1
Episode 25 – What does COVID-19 mean for the rare disease community? 35:12

1
Episode 24 – The promise of genetic testing in rare 27:24

1
Episode 23 – Breaking through with interactive education in rare disease 24:23

1
Episode 22 – Misdiagnosed: The importance of genetic testing 26:23

1
Episode 21 – From broad questions to exact answers 19:50

1
Episode 20 – Taking back life by tackling diagnosis 18:04

1
Episode 19 — Exploring transgenics—the forefront of genetic advancement in rare 19:11

1
Episode 18 — Connecting the dots in the network of rare 34:01

1
Episode 17 — The hope that comes with a name: the power of a diagnosis 25:25

1
Episode 16 — Voices of ACMG: On the floor at the 2019 annual meeting 24:39

1
Episode 15 — The A, T, G, and C’s of genes: exploring genetics with Dr. Anthony Gregg 28:23

1
Episode 14 — “Beautifully heartbreaking”: one mom’s rare and incredible journey 27:02

1
Episode 13 — Rare Disease Day: Looking back. Forging ahead 18:50

1
Episode 12 — When all the stars align in the fight against ALL 38:37

1
Episode 11 — “I got here because I asked for help”: coming together in rare 20:46

1
Episode 10 — When a rare disease treatment fails approval, what happens next? 15:25

1
Episode 9 — From physician to CEO; always a passion for rare 33:08

1
Episode 8 — On location: Global Genes RARE Patient Advocacy Summit 22:10

1
Episode 7 — Blood brothers and sisters: the bond of hemophilia A 27:53

1
Episode 6 — Two rare: fighting Marfan and Ehlers-Danlos 36:36

1
Episode 5 — The power of siblinghood in rare 22:26

1
Episode 4 — Taking on rare as a family 29:46

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Episode 3 – Ehlers-Danlos and rare art 46:24

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Episode 2 – On trial 22:09

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Episode 1 – Hanging out with zebras 38:39

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