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

Updated 11 days ago

Health
Medicine
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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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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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iTunes Ratings

2 Ratings
Average Ratings
1
0
1
0
0
Cover image of Rare Genomics / RareShare Podcast Series: Ask the Expert & Patient Navigation

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

Updated 11 days ago

Read more

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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Rank #1: 3 Perspectives on Facing a Rare Disease: A Patient, a Caregiver, and an Expert Discuss Diagnosis and Treatment of Pulmonary Fibrosis

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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.

Jun 08 2019
46 mins
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Rank #2: All About Genomic Sequencing for Rare Disease Patients: A Focus on iHope

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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.

Apr 19 2019
29 mins
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Rank #3: Growing up With a Rare Disease: An Alagille Syndrome Warrior on Understanding Her Rare Disease and Participating in Research

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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.
Dec 17 2018
33 mins
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Rank #4: Coping With Your Child's Diagnosis: The Mother of a Rare Disease Patient on How She Found a Supportive Community

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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

Aug 14 2018
33 mins
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Rank #5: Receiving a Rare Disease Diagnosis: A Huntington’s Disease Patient Shares His Experience and Advice for Coping with a New Diagnosis (Patient Navigation)

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Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
May 14 2018
24 mins
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Rank #6: The Power of Community: How Patient Communities Provide Hope and Help Further Rare Disease Research (Patient Navigation)

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Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
Mar 06 2018
26 mins
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Rank #7: Antisynthetase Syndrome Ask the Experts Podcast Series, Session II - 11/20/2017

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Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
Nov 20 2017
54 mins
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Rank #8: Adrenomyeloneuropathy (AMN)/Adrenoleukodystrophy (ALD) Podcast Series, Session II (06/14/2017)

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Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
Jun 15 2017
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Rank #9: LGLL Ask The Experts Podcast Session IV

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Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
Nov 18 2016
48 mins
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Rank #10: Hospitals, Doctors, Medical Teams: Navigating Barriers of Rare Diseases (Patient Navigation)

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Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)
Sep 12 2016
22 mins
Play