Thank you for visiting the SHORE website. Please use the links above to find information about Iranian Jewish and Sephardic genetic diseases and how to get screened for these diseases. If you have more questions regarding genetic diseases and screening you may contact a SHORE representative by emailing us at firstname.lastname@example.org
2015 HIBM Advocacy Meeting in New York on January 11
Join the NDF in conjunction with SHORE in an exclusive advocacy meeting with updates on the latest advancements in HIBM research and treatment.
To RSVP click on the following link: RSVP
GNEM disease monitoring program (GNEM-DMP)
A new private-public initiative has begun lead by TREAT-NMD and Ultragenyx to better track the natural history of HIBM. This serves as a way to guide researchers to design clinical trials and develop potential treatments. - To learn more go to: GNEM-DMP
Ultragenyx Pharmaceutical has announced positive results from the Phase 2 trial to evaluate the dose and pharmacodynamic efficacy of SA-ER for the treatment of HEREDITARY INCLUSION BODY MYOPATHY (HIBM) click on the following link for the press release: Ultragenyx Clinical Trials Press Release
HIBM SURVEY 2014-2015
If you are of Iranian descent please take a few minutes of your time to fill out an important survey conducted by California State University, Northridge entitled: Knowledge and Attitudes towards HIBM and Genetic Carrier ScreeningNote: For each completed survey you may enter to WIN a $100 Visa gift card!
NIH HIBM Natural History Study
The goal of this research study is to better understand the signs, symptoms, and clinical course of HIBM and to develop better tests to measure the progression of the disease.
Synageva Clinical Trials for LAL Deficiency (Early and Late onset)
SBC-102 is a recombinant human lysosomal acid lipase (LAL) with the same amino acid sequence as the human lysosomal acid lipase enzyme. SBC-102 has been shown to reduce lipid substrate levels in diseased tissues and correct disease abnormalities associated with deficiency of the LAL enzyme, including growth failure and liver pathology in a disease model of LAL Deficiency. Human clinical trials in patients with both early onset and late onset LAL Deficiency, also known as Wolman Disease and Cholesteryl Ester Storage Disease (CESD) respectively is underway. To participate in these trials click here
for more information.