Rareshare News Articles

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 

• 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.