Rareshare News Articles

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 

• Our Vision
• Antidote on RareShare
• CoRDS Registry
• iHope

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.

Rare Genomics Institute and RareShare are proud to invite you for the upcoming podcast discussing:

Living with Adrenomyeloneuropathy (AMN) -A Clinical & Research Perspective

After 14 years with no diagnosis, last year we pursued gene sequencing through Rare Genomics Institute and finally found an answer

Adrenomyeloneuropathy (AMN) is a rare inherited metabolic disorder that affects approximately 30,000 people worldwide.
Adrenomyeloneuropathy (AMN) is also known as X-ALD, Addison Disease with Cerebral Sclerosis, ALD, AMN, Bronze Schilder Disease, Melanodermic Leukodystrophy, Schilder Disease, Siemerling-Creutzfeldt Disease, SCD, Sudanophilic Leukodystrophy, XALD, X ALD, X-linked adrenoleukodystrophy, X linked adrenoleukodystrophy. 

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. 

RareShare is pleased to announce the February 28, 2017 launch of our new redesigned website– an online community where those affected by rare diseases can find support, guidance and information. It is hoped that this will be an active space where the isolation and uncertainty accompanying a rare disease diagnosis can be partially lifted.  

• 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)

Arturo Porzecanski, a rare disease patient and advocate, gives us some tips on navigating decisions involved in choosing hospitals, doctors, and medical teams.
Featuring Arturo Porzecanski (American University). (Music credit:www.bensound.com)