Rareshare News Articles

Rare Genomics Institute's RareWear initiative seeks to connect medical device developers with rare disease patients.

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.

• Serving the Undiagnosed
• Obtaining a Rare Diagnosis
• Rare Genomics Institute Partners with Genomenon on AI-Based Diagnostic Technology

Stanford UDN diagnoses two brothers with MEPAN Syndrome.

Undiagnosed Diseases Network takes on challenge of rare disease diagnosis.

Our Odyssey, a meet-up for young adults facing challenges from rare or chronic conditions, takes place in Washington, DC on September 8, 2019.

Introduction to the Rareshare website and its features.

Diagnosis, a New York Times produced documentary featuring Yale physician Dr. Lisa Sanders premiers on Netflix on August 16 https://www.netflix.com/title/80201543.  

Listen to our latest podcast, 3 Perspectives on Facing a Rare Disease:  A Patient, a Caregiver, and an Expert Discuss Diagnosis and Treatment of Pulmonary Fibrosis, located in the podcast section of this website.

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.

To support research leading to a cure for Friedreich's Ataxia, several fundraising cycling events are being held across the U.S

• Stop Making Sense: Antisense Therapies for Rare Diseases Show Promise
• RGDI Promotes Drug Discovery
• Help RareShare and Rare Genomics better serve you by telling us about areas pertaining to rare diseases that interest you
• Participants rev up their enthusiasm for the Race for 7 Rare Disease Day fun run event
• Rare Genomics iHope Program Podcast

Confounding conventional wisdom that the perfect translation of genetic information prevents disease, new approaches using antisense oligonucleotides (ASO’s) intentionally disrupt the normal information transfer process.

Rachel Clemens, Eva Wu and Imran Babar represented the Rare Genomics Institute at April’s World Orphan Drug Congress in Maryland.  The three day congress brought together over 1,200 participants from government, commercial and patient advocacy groups interested in orphan drug development and rare disease research.

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.

• Gene Repair Offers Hope and Challenges
• RareShare’s 10th Anniversary
• Rare Genomics Featured in German Documentary
• SUPERHERO FUNDRAISER
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Growing up With a Rare Disease: An Alagille Syndrome Warrior on Understanding Her Rare Disease and Participating in Research