Rare In Common 공개
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Rare in Common is a podcast about the unique stories of people affected by rare disease. Host Andra Stratton, a rare disease advocate, speaks with different members of the rare disease community, including patients, caregivers, healthcare professionals, and researchers. Join us as we tackle topics such as FDA approvals, national awareness campaigns, finding hope and support within the rare community, and the extraordinary challenges of living with a rare disease. Click. Listen. Feel.
 
Kenneth Grahame wrote a classic children’s tale in 1908 - he penned The Wind in the Willows. He wrote of the English countryside and the beauty of it, but more than that, he showed how even the most commonplace can be extraordinary and rare. Wind in the Willows is a tale of friendship, of adventure, of foolishness and wisdom, of travel and change as well as peace and predictability; but most of all, it is a story of friendship - friendship that crosses species, ages, and professions. We all ...
 
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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…
 
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.…
 
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…
 
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…
 
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…
 
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.…
 
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…
 
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…
 
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 …
 
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…
 
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…
 
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 “…
 
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…
 
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…
 
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…
 
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…
 
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…
 
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…
 
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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