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

Date: 01/22/2020

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.

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

Date: 08/27/2019

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 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

Date: 06/08/2019

Associated community: Idiopathic 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.

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

Date: 04/19/2019

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.

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

Date: 12/17/2018

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

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

Date: 08/17/2018

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. 

Receiving a Rare Disease Diagnosis: A Huntington’s Disease Patient Shares His Experience and Advice for Coping with a New Diagnosis (Patient Navigation)

Date: 05/14/2018

Associated community: Huntington's Disease

Seth Rotberg, 27, was diagnosed with Huntington’s Disease at age 20 and has since become an advocate for rare disease patients. He tells us about his experience dealing with his own diagnosis, and shares his advice for anyone dealing with a new disease diagnosis, especially young people.

The Power of Community: How Patient Communities Provide Hope and Help Further Rare Disease Research (Patient Navigation)

Date: 03/06/2018

We look at the importance of patient communities for providing support to one another, and for helping further rare disease research. Austin Letcher, the senior research associate for the Coordination of Rare Diseases at Sanford Health (CoRDS) tells us how a free database provides information for both patients and researchers.

Antisynthetase Syndrome Ask the Experts Podcast Series, Session II - 11/20/2017

Date: 11/24/2017

Associated community: Antisynthetase Syndrome

Featuring Dr Sonye Danoff (Johns Hopkins Interstitial Lung Disease Clinic) and Dr Frederick Miller (National Institute of Environmental Health Sciences at the NIH Clinical Center) answering community questions about Antisynthetase Syndrome (ASS) including the latest clinical and research developments and treatment options. Hosted by Imogen Crispe and Deepa Kushwaha (Music credit:

Adrenomyeloneuropathy (AMN)/Adrenoleukodystrophy (ALD) Podcast Series, Session II (06/14/2017)

Date: 06/14/2017

Associated community: Adrenomyeloneuropathy

Featuring Dr. Paul Orchard (University of Minnesota) and Dr. William Rizzo (University of Nebraska) answering community questions about Adrenomyeloneuropathy (AMN). Hosted by Imogen Crispe & Deepa Kushwaha. (Music

LGLL Ask The Experts Podcast Session IV

Date: 11/18/2016

Associated community: Large Granular Lymphocytic Leukemia

Featuring Dr. Thomas Loughran (UVA, Virginia) answering community questions about Large Granular Lymphocytic Leukemia (Music

Hospitals, Doctors, Medical Teams: Navigating Barriers of Rare Diseases (Patient Navigation)

Date: 09/12/2016

Associated community: Systemic Capillary Leak Syndrome

Arturo Porzecanski, a rare disease patient and advocate, gives us some tips on navigating decisions involved in choosing hospitals, doctors, and medical teams.
Featuring Arturo Porzecanski (American University). (Music

Crigler Najjar Syndrome Ask The Experts Podcast Series (05/25/2016)

Date: 05/25/2016

Associated community: Crigler-Najjar Syndrome

Featuring Dr. P.J. Bosma (AMC), Dr Hendrik J. Vreman (Stanford), and Dr Jayanta Roy-Chowdhury (AECM). (Music

LGLL Podcast Series III (3/25/2016)

Date: 03/25/2016

Associated community: Large Granular Lymphocytic Leukemia

Featuring Dr. Thomas Loughran (UVA, Virginia) and Dr. Bogdan Dumitriu (NIH, Bethesda, Maryland).

LGLL Podcast Session II (11/24/2015)

Date: 11/11/2015

Associated community: Large Granular Lymphocytic Leukemia

Featuring Dr Thomas Loughran (UVA, Virginia), Dr Lubomir Sokol (Moffitt Cancer Center, Florida) and Dr Jimmy Lin (RG/RareShare)

Chromosome 4q Deletion Syndrome Podcast Series: (08/10/2015)

Date: 08/10/2015

Associated community: Chromosome 4q Deletion Syndrome

Featuring Dr Scott Hickey (Nationwide Childrens Hospital, Columbus, OH), Dr Eugene Strehle (North Tyneside General Hospital & Newcastle University, North Shields, UK), Ms Prisca Middlemiss (Unique, The Rare Chromo Disorder Group, Oxted, Surrey, UK) and Dr Jimmy Lin (RGI)

Adrenomyeloneuropathy (AMN)/Adrenoleukodystrophy (ALD) Podcast Series-06/02/2015

Date: 06/02/2015

Associated community: Adrenomyeloneuropathy

Featuring Dr Weston Miller (Univertsity of Minnesota), Dr Jay R Shapiro (Kennedy Kreiger Institute, John Hopkins University), Ms Ann Moser (Kennedy Kreiger Institute, John Hopkins University) and Dr Jimmy Lin (RGI)

Antisynthetase Syndrome Podcast Series-02/24/2015

Date: 02/24/2015

Associated community: Antisynthetase Syndrome

Featuring Dr Fredrick Miller (NIEHS, NIH), Dr Lisa Christopher-Stine (John Hopkins School of Medicine) and Dr Jimmy Lin (RGI/RareShare)

LGLL Podcast Series-02/13/15

Date: 02/13/2015

Associated community: Large Granular Lymphocytic Leukemia

Featuring Dr Thomas Loughran (UVA), Dr Thierry Lamy (Rennes University, France) and Dr Jimmy Lin (RGI/RareShare)

Mice as Research Models in Rare Neuro-immunologic Diseases (Transverse Myelitis, Neuromyelitis Optica, Acute Disseminated Encephalomyelitis and Optic Neuritis)-8/13/2013

Date: 08/13/2013

Featuring Dr Benjamin Greenberg (UT Southwestern Medical Center), Dr Allen Desena (University of Texas Southwestern in Dallas), Dr Cathleen Lutz ( The Jackson Laboratory) & Dr Jimmy Lin (RGI/RareShare) in association with The Transverse Myelitis Association (TMA)

C.elegans (Nematode worms) as a Research Model in Rare Diseases & Trigeminal Neuralgia (TN) Podcast Series-12/12/2012

Date: 12/12/2012

Featuring for C. elegans segment - Dr Andy Golden (NIDKD, NIH) & Dr Michael Stern (University of Central Florida) & for Trigeminal Neuralgia (TN) segment - Dr William P Cheshire (Mayo Clinic, Florida) & Dr Richard A. Lawhern (Living with TN) along with hosting Dr Jimmy Lin (RGI/RareShare) in association with Ben's Friends

Ataxia Podcast Series-II (Bonus Segment)-10/11/2012

Date: 10/11/2012

Associated community: Ataxia Telangiectasia

Featuring Dr Susan Perelman (David Geffen School of Medicine at UCLA) & Dr Jimmy Lin (RGI/RareShare) in association with Ben's Friends

Mendelian Rare Diseases and Technological Advances in Sequencing, Ataxia Podcast Series-I-10/8/2012

Date: 10/08/2012

Associated community: Mendelian susceptibility to atypical mycobacteria

Featuring Dr Misha Angrist (Duke University), Dr Lyon Gholson (Cold Spring Harbor Laboratory), Dr Susan Perelman (David Geffen School of Medicine at UCLA) & Dr Jimmy Lin (RGI/RareShare) in association with Ben's Friends

Syndrome Without A Name, Ask the Expert Podcast Series-06/28/2012

Date: 06/28/2012

Featuring Dr Jimmy Lin (RGI), Dr Marisa Dolled-Filhart (RGI) and Dr Naira Rezende (RGI) in association with Amy Clugston, SWAN USA