Rareshare News Articles

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

One of the diseases featured on the Netflix Diagnosis program was KCNMA1-linked channelopathy, an illness characterized by sporadic seizures and limpness. 

• Diagnosis by Crowdsourcing?
• KCNMA1-Linked Channelopathy Featured in Diagnosis
• DISORDER Comes to San Francisco
• Reach Out and Connect
• RareWear Survey Assesses Monitoring Needs
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• 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