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

Feb 24 2024 29 ep. 44 mins 43

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

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 [email protected]

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Genetic Counseling in Rare Diseases

Feb 24 2024 49 mins

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.

Jimmy Lin RareShare Podcast

Aug 07 2023 36 mins

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

Clinic for Special Children

Feb 07 2022 60 mins

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,

Ethan and Me with Geraldine Renton

May 25 2021 45 mins

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 disea

Meet the Rareshare Team

Dec 06 2020 29 mins

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

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

Jan 21 2020 34 mins

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

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

Aug 27 2019 17 mins

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.

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

Jun 08 2019 46 mins

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 care

All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope

Apr 19 2019 29 mins

Genomic sequencing is something many rare disease patients may need, but may not be able to access. The Rare Genomics institute runs a program called iHope to help children and their families afford genomic sequencing with the hope of finding a diagnosis, and a treatment. In this episode we chat with Romina Ortiz, a scientist and a co-founder of Rare Genomics to hear about the the

Growing up With a Rare Disease: An Alagille Syndrome Warrior on Understanding Her Rare Disease and Participating in Research

Dec 17 2018 33 mins

Being born with, and growing up with a rare disease means you don’t necessarily know any other way of life. This month we spoke with 23-year-old Anna Laurent, who was born with Alagille Syndrome, and as she grew up, she gradually learned about what that meant, and how her life was different from other kids’ lives. She tells us about her symptoms and treatment experiences, part