Rareshare News Articles

• 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.

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.

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

Community-based rare disease website is 10 years old and going strong.

CRISPR technology finding applications in treatment of rare diseases.

• Using Computers To Repurpose Existing  Drugs in Treating Rare Diseases
• Joaquin's Update
• New Content on RareShare.org
• What is RGTF?
• There still is iHope...
• Attend a virtual rare disease conference
• RareShare Team Spotlight

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. 

Check out recent rare disease news links on RareShare.  Learn about specific diseases, latest treatments and how others cope with and succeed in facing enormous challenges associated with rare disorders.  The news links are accessible through the Resources pull-down menu on the main RareShare page or on the front page after member login.

Listen to RareShare's latest podcast on Receiving a Rare Disease Diagnosis:  A Huntington's Disease Patient Shares His Experience and Advice for Coping with a New Diagnosis

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.

• RARE DISEASE DAY 2018
• Gene Therapy Approvals Bring Hope to Rare Disorder Communities
• The Rare Genomics Task Force (RGTF)
• Did you know RareShare has a podcast channel?
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Gene therapy, one of the most highly touted treatments in medicine, took major steps forward after decades of unfilled promise. Over the past several months, the U.S. Food and Drug Administration (FDA) has approved three gene therapies – the first two for forms of cancer and the third for people with certain inherited forms of vision loss or blindness.

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.