Rare Genomics / RareShare Podcast Series: Ask the Expert & P

Jimmy Lin RareShare Podcast

Play Episode Listen Later Aug 8, 2023 36:34

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

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Clinic for Special Children

Play Episode Listen Later Feb 7, 2022 60:46

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!

serving clinic amish mennonites central pennsylvania special children

Ethan and Me with Geraldine Renton

Play Episode Listen Later May 26, 2021 45:41

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."

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Meet the Rareshare Team

Play Episode Listen Later Dec 7, 2020 29:10

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

Play Episode Listen Later Jan 21, 2020 34:55

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

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

Play Episode Listen Later Aug 27, 2019 17:25

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.

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

Play Episode Listen Later Jun 8, 2019 46:55

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.

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

Play Episode Listen Later Apr 19, 2019 29:00

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 potential costs of sequencing, the difference between exome sequencing and whole genome sequencing, and how, through iHope, Rare Genomics has provided $2.7 million worth of whole genome sequencing to patients in need. She also explains why genomic testing doesn’t always lead to instant diagnosis (only 20-30%), and shares some iHope success stories.

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

Play Episode Listen Later Dec 17, 2018 33:15

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, participating in research, and her involvement with rare disease advocacy. Anna also recently graduated from college so she tells us about her new job! Visit RareShare.org to find your community.

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Coping With Your Child's Diagnosis: The Mother of a Rare Disease Patient on How She Found a Supportive Community

Play Episode Listen Later Aug 13, 2018 33:22

Anne Bruns’ son Ethan was diagnosed with Atypical Hemolytic Uremic syndrome (Atypical HUS), when he was just 8 years old. Anne tells us how she, Ethan and the rest of their family first reacted to the diagnosis, shares her advice for other families coping with a rare disease diagnosis, and lets us know how Ethan is doing today. www.rareshare.org

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