Rareshare News Articles

RareShare consists of over 900 different rare disease communities, where individuals can learn, celebrate, empathize and share their experiences and knowledge to help others. This incredible initiative wouldn’t be possible without the countless hours devoted by the RareShare team.

Do you have a story to share about coping with a rare disorder?  Inspire others with your experiences by making a submission to Rare Genomics Institute's Share Your Rare Story program!

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.

You can play an important role in advancing research for rare diseases. The Coriell Institute for Medical Research is currently looking for new samples from affected individuals with rare, inherited diseases to add to the NIGMS Human Genetic Cell Repository.

Race for 7: Race for 7 is an awareness run organized by Organization For Rare Disease India (ORDI) – a team committed to address the challenges of rare disease patients and their families in India

• DISORDER:  Rare Disease Film Festival
• iHope Continues for Rare Genomics Families
• RareShare Reaches Out
• Rare Genomics Institute Helps in Hailey-Hailey Disease Treatment Study
• Did you know RareShare has a podcast channel?
• Calling all Superheroes, help us reach our goal!

When living with a rare disorder, conditions that even most doctors have never heard of, being recognized, acknowledged, and understood is difficult and sometimes impossible. With advancements in technology, individuals have more creative freedom and ability to tell their stories – rare or otherwise. On October 2nd and 3rd in Boston, DISORDER, the first Rare Disease Film Festival thrilled and inspired moviegoers, shining a light on the lives of individuals and families dealing with unique challenges and successes in coping with a rare disease.

Rare Genomics Institute (RG) has led the way in supporting undiagnosed rare disease patients access next generation sequencing since 2011. At a time when clinical whole exome sequencing was still largely done only in the research setting, RG worked with these laboratories (mainly in research universities) to sequence undiagnosed patients and actually return the results for clinical follow up.

In September and October, Rare Genomics Institute participated in the Global Genes Patient Advocacy Summit in Irvine, CA and the National Organization for Rare Disorders (NORD) conference in Washington, D.C.  At both meetings, Rare Genomics was there to spread the word about RareShare and its ability to connect those with interests in specific rare diseases, as well as to learn about the latest rare disease developments from leading experts.

Rare Genomics (RG) was approached by the Hailey-Hailey Disease Worldwide Support Group to help conduct a study to test low-dose naltrexone (LDN).  Hailey-Hailey disease (HHD) is a rare genetic skin disorder characterized by blisters or erosions on the skin. These skin abnormalities can come and go throughout a person’s life. Certain triggers such as heat or friction can worsen the problem. 

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: www.bensound.com)

Rare Genomics Institute and RareShare are proud to notify you of the upcoming podcast discussing:
Living with Antisynthetase Syndrome -A Clinical & Research Perspective with Dr Sonye Danoff (Johns Hopkins) and Dr Frederick Miller (NIH)
 

With the relaunch of RareShare.org, we would like our members to join in advancing the website’s vision. Our goal is to support new and existing communities to become an interactive experience rather than static online forums.  In order to achieve this, RareShare believes it will take a collaborative effort.  We can accomplish this by building even stronger relationships with our current community members and the volunteers who contribute their time and effort to building and maintaining the website.

The VanBrocklin's, a family from Wisconsin, received free clinical whole genome sequencing through Rare Genomics as part of its iHope program in collaboration with Illumina, Inc. Through this test, both children received answers in their diagnostic journey. It is our hope that more support is given for undiagnosed children, so that they may receive the treatments and care that they have desperately needed throughout the