Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation

Rare Genomics Institute
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Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation

We talk to rare disease experts about treatments, trials, and new developments, and rare disease patients share their experiences and advice for staying positive in the face of diagnosis. Learn more about the RareShare.org community, and how you can get involved. Get in touch if you are an expert or patient who would like to be on the podcast! Email us at rgpodcast@raregenomics.org

  1. 02/24/2024

    Genetic Counseling in Rare Diseases

    Two genetic counselors, Sasha Bauer and Chloe Cheung, discuss how genetic counseling can help rare disease patients understand and cope with their condition. While genetic information does not always lead to clear therapeutic options, the knowledge gained is empowering.

    50 min

  2. 08/08/2023

    Jimmy Lin RareShare Podcast

    Rare Genomics Institute founder and president, Dr. Jimmy LIn, discusses health equity and rare diseases in this episode of the RareShare podcast series.

    37 min

  3. 02/07/2022

    Clinic for Special Children

    Serving the Amish and Mennonite communities in Central Pennsylvania, the Clinic for Special Children provides counseling and healthcare for rare disorders affecting the local population. In doing so, it has become a recognized leader in the treatment and scientific understanding of conditions such as Maple Syrup Urine Disease. Listen to an in-depth, fascinating story of the clinic, its goals, accomplishments and challenges as told by current staff members. You'll almost certainly agree that it is truly a special place!

    1h 1m
  4. Ethan and Me with Geraldine Renton

    05/26/2021

    Ethan and Me with Geraldine Renton

    Listen to RareShare's latest podcast with Geraldine Renton, book author and Irish mother of a Hunter Syndrome child. In this episode, Geraldine tells of her family's journey navigating the challenges of a rare disease that led to the writing of her book Ethan and Me. Hear about their courageous battle with adversity, as they learned of the genetic enzyme deficiency behind the disease and faced its unrelenting consequences, leading to Ethan's passing in late 2020. From learning about Ethan's diagnosis, to locating support and treatments, to just being a mom, the podcast paints a broad perspective about confronting a rare disease. This very candid and detailed account, which includes many lighter enduring moments about life with Ethan, is heartwarming, informative and inspirational.     From the book Ethan and Me:  "You're now in a secret world. You'll see things you never imagined... yet you'll also witness so many everyday miracles. You'll treasure things most wouldn't think twice about. You'll become an advocate, an educator, a specialist and a therapist, but most of all you'll be Mom or Dad to the most wonderful child."

    46 min
  5. Meet the Rareshare Team

    12/07/2020

    Meet the Rareshare Team

    This episode features RareShare itself, and discuss various topics ranging from its goals and how to utilize its networking and informational content. We hope to provide you with a brief, but comprehensive view of the website·s features, the diverse and

    29 min
  6. Don’t Sell Yourself Short: Having a Career after a Rare Disease Diagnosis

    01/22/2020

    Don’t Sell Yourself Short: Having a Career after a Rare Disease Diagnosis

    No one expects to get a rare disease diagnosis in their mid 20s at the start of a budding career, then get fired for spending too much time away getting treatment, but that’s exactly what happened to Candace Lerman in 2014. Now, almost 6 years later, inspired by her own quest for effective treatment, Candace has retrained as a lawyer and is fighting for new treatment approvals on Capitol Hill. Candace joins us to chat about her experience as a rare disease patient, how she went from losing her job, to succeeding at law school, and about the work she is doing to assist nonprofits in the rare disease space. Candace is also going to share some advice for rare disease patients who want to have a career, and give some tips about keeping your health data safe when taking part in clinical research. www.rareshare.org

    35 min

  7. 08/27/2019

    How to Get Answers From Rare Disease Experts: The Rare Genomics Task Force (RGTF)

    Arvin Gouw, a scientist at Stanford University and a founding member of Rare Genomics Insitute, chats with us about how patients and caregivers can get answers to questions about rare diseases, clinical trials, symptoms, and more, from experts and researchers in the field with the Rare Genomics Task Force. Visit RareShare.org to find your rare disease community.

    17 min

  8. 06/08/2019

    3 Perspectives on Facing a Rare Disease: A Patient, a Caregiver, and an Expert Discuss Diagnosis and Treatment of Pulmonary Fibrosis

    Hear about rare disease diagnosis, treatment, and quality of life from the perspective of Pulmonary Fibrosis patient Jim Carns, his wife and caregiver Karen Carns, and Dr David Lederer, an expert from the Pulmonary Fibrosis Foundation who is also an Associate Professor at Columbia University. Jim tells us his diagnosis and treatment story, Karen explains what life is like as a caregiver or “care partner,” while Dr Lederer explains the causes of the disease, the treatment options, and upcoming Pulmonary Fibrosis research. Visit RareShare.org to find your rare disease community.

    47 min
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About

We talk to rare disease experts about treatments, trials, and new developments, and rare disease patients share their experiences and advice for staying positive in the face of diagnosis. Learn more about the RareShare.org community, and how you can get involved. Get in touch if you are an expert or patient who would like to be on the podcast! Email us at rgpodcast@raregenomics.org

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