최고 Rare In Common 팟캐스트 (2021)

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Rare in Common: the podcast

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

6M 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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Rare in Common: the podcast

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

7M 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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Rare in Common: the podcast

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

9M 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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Rare in Common: the podcast

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

10M 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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Rare in Common: the podcast

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

11M ago24:23

24:23

저자 Cambridge BioMarketing

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Rare in Common: the podcast

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

12M ago26:23

26:23

저자 Cambridge BioMarketing

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Rare in Common: the podcast

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

1y 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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Rare in Common: the podcast

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

1y 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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Rare in Common: the podcast

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

1+ y 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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Rare in Common: the podcast

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

1+ y 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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Rare in Common: the podcast

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

1+ y 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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Rare in Common: the podcast

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

1+ y 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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Rare in Common: the podcast

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

1+ y 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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Rare in Common: the podcast

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

2y 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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Rare in Common: the podcast

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

2y 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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Rare in Common: the podcast

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

2y 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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Rare in Common: the podcast

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

2y 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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Rare in Common: the podcast

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

2y 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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Rare in Common: the podcast

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

2y 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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Rare in Common: the podcast

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

2y 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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Rare in Common: the podcast

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

2+ 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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Rare in Common: the podcast

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

2+ y ago36:36

36:36

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

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Rare in Common: the podcast

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

2+ y 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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Rare in Common: the podcast

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

2+ y 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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Rare in Common: the podcast

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

3y 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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Rare in Common: the podcast

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Episode 2 – On trial 22:09

3y 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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Rare in Common: the podcast

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Episode 1 – Hanging out with zebras 38:39

3y 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

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