Rareshare News Articles

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?
•  

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.

• 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 (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 

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 credit:www.bensound.com)

Neurofibromatosis type 2 or NF2 is a genetic disorder characterized by the development of benign tumors in the nervous system. Depending on the type of cell that originates the tumor, these tumors are called schwannomas, meningiomas or ependymomas.

Antisynthetase syndrome is a rare chronic autoimmune muscle disorder. Antisynthetase is also known as Anti-Synthetase Syndrome, Anti JO-1 Syndrome, Myositis Synthetase Syndrome, JO-1 Antisynthetase Polymyositis. There are 162 members in Antisynthetase community. In the past year we have created podcasts and ebooks on Antisynthetase syndrome with the collaboration of clinicians, community members and Rare Genomics Institute.

Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. The severity of the phenotypic effect of the deletion depends on the size and the location of the deletion on chromosome 4q. This disease is prevalent in around 1 in every 100,000 people. The ebook is a good place to look for some information about Chromosome 4q Deletion.

Crigler-Najjar Syndrome (CNS) is an inherited disorder that is characterized by high levels of bilirubin in the blood, a toxic waste product when present for too long in the body. The estimated prevalence of CNS is less than 1 in 1-million with less than one thousand cases reported. For more brief information about CNS, check out the Crigler-Najjar ebook.

Large granular lymphocyte leukemia (LGLL) is a rare genetic disorder affecting the immune system. LGLL is characterized by enlarged lymphocytes and a decline in red blood cells and neutrophils. For more information on LGLL, see the LGLL ebook. 

• Welcome to the new RareShare!
• RareShare is Part of the Rare Genomics Institute

Featuring Dr. Thomas Loughran (UVA, Virginia) answering community questions about Large Granular Lymphocytic Leukemia (Music credit:www.bensound.com)