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December 2017 Newsletter

Publication date: 17 Dec 2017

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Welcome to the first issue of the new combined Rare Genomics/RareShare newsletter. Rare Genomics (RG) is an international non-profit that provides access to cutting edge research technologies, physicians, and scientists across the globe. RG is dedicated to helping rare disease patients find hope for a cure. RareShare is a website of rare disease communities that fosters support and builds connections among patients, caregivers, and researchers of rare genetic disorders.

The combined newsletter will provide updates on the activities of RG and RS, highlight interesting or important stories about rare genetic disorders, as well as key issues that are relevant to patients, caregivers and physicians who deal with rare genetic disorders.

DISORDER: Rare Disease Film Festival

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. Read More

iHope Continues for Rare Genomics Families

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. Read More

RareShare Reaches Out

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, DC. 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. Read More

Rare Genomics Institute Helps in Hailey-Hailey Disease Treatment Study

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. Read More

Did you know RareShare has a podcast channel?

Our latest Ask the Experts series podcast on Antisynthetase Syndrome featured Dr Sonye Danoff (John's Hopkins), and Dr Frederick Miller (NIH Clinical Center), answering questions submitted by members of the RareShare.org community. Topics covered included symptoms, treatments, lifestyle and some exciting information about new clinical trials. Listen to the podcast here, or find it on iTunes.

Last June we published an Ask the Experts series podcast on Adrenomyeloneuropathy (AMN)/Adrenoleukodystrophy (ALD) featuring Dr. Paul Orchard (University of Minnesota) and Dr. William Rizzo (University of Nebraska) answering community questions. We discussed causes of AMN/ALD, diagnosis, research, and clinical trials. Listen to the podcast here or find it on iTunes.

Our podcasts are a direct extension of RG's overall mission to be a source of hope and support to the rare disease community. We regularly talk to both experts and patients to find out more about living with rare diseases. Listen to our latest Patient Navigation podcast where we spoke with Arturo Porzecanski, a rare disease patient and advocate, who gave us some tips on choosing hospitals and doctors. Or check out our panel discussions with rare disease experts in our Ask the Experts series. You can find more podcasts on our RareShare Podcast Channel.

In addition to informational content and podcasts, 11 new communities were started on RareShare by interested individuals. They include:

Neuroaxonal Dystrophy
Spondylocostal dysostosis associated with BMPER2
Congenital non-goitrous hypothyroidism, type 6
USP7
Hemimegalencephaly
LCAT deficiency
Vici syndrome
14q21.3 Deletion
Hypomyelination and Atrophy of the Basal Ganglia and the Cerebellum
Hyperacusis
3q23 duplication - COPB2 Gene

Calling all Superheroes, help us reach our goal!
We have raised over $4,000 and we need your help to get to the finish line. We want to raise $7,000 by the end of 2017. That would be just $1 for each rare disease! We pride ourselves in partnering with our patients, but we need your support to continue our programs aimed to help a family get the answer they so desperately need. To donate: https://rgfundraiser.causevox.com/.

Genome sequencing, Personalized Medicine, and Orphan Drugs have become hot topics in the search for cures for diseases, however we cannot get to a treatment until we are diagnosed, and too many undiagnosed rare disease patients remain chronically misunderstood and unsupported. Each of the children living today with a rare disease is a Genetic Superhero. They fight for a cure and a brighter future.

We are asking everyone to become a Superhero and join the Genetic Generation: Guardians of the Rare by donating to RG, a 501(c)(3) non-profit patient advocacy organization that works to help undiagnosed rare disease patients by shortening their diagnostic odyssey. Any amount will contribute to a brighter future for generations to come.

All donations will receive a receipt from RG for tax deductions, and by donating to our campaign; you will be entered into a drawing for generously donated prizes! Each $10 donation represents a single entry, for example, by donating $100 - you will be entered 10 times for a chance to win. Winners will be contacted at the conclusion of this campaign with the details of their prize. https://rgfundraiser.causevox.com/.

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