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April 2019 Newsletter

Publication date: 22 Apr 2019

Stop Making Sense: Antisense Therapies for Rare Diseases Show Promise

Confounding conventional wisdom that the perfect translation of genetic information prevents disease, new approaches using antisense oligonucleotides (ASO’s) intentionally disrupt the normal information transfer process. ASO's are short pieces of genetic material that have potential therapeutic effects when taken up by diseased cells. For some disorders, the correct reading of the genetic code leads to the synthesis of abberrant proteins contributing to disease development. The introduction of an ASO alters the transfer of information such that the synthesis of a functional protein that counteracts disease symptoms is enhanced. Two recent examples suggest that ASO therapies can be effective in the treatment of specific rare diseases.

RGDI Promotes Drug Discovery

With effective therapies for rare diseases being hard to come by, how can drug development be accelerated? Better collaborative relationships among patients, researchers, medical professionals and commercial partners may be the key. Rare Genomics Institute is seeking to leverage its resources to help bring about such collaborations. A specialized project team, the Rare Genomics Drug Initiative (RGDI), has been formed to promote the development of new drugs and therapeutic approaches to benefit rare disease patients. The team aims to advance the discovery of drugs for rare disorders with limited therapeutic options by addressing patient needs with a strong foundation of knowledge and strategic partnerships.

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Participants rev up their enthusiasm for the Race for 7 Rare Disease Day fun run event in Fremont, CA, sponsored by ORDI, Organization for Rare Diseases India. Race for 7 was held at multiple venues in the U.S. and in India this year to promote rare disease awareness worldwide. Rare Disease Day is held annually at the end of February.

Rare Genomics iHope Program Podcast

Listen to our latest podcast to learn how Rare Genomics Institute's iHope program helps patients with unknown rare diseases get diagnosed though genomic sequencing in coordination with commercial partners. Romina Ortiz, Rare Genomics' co-founder and COO, describes the origin of the program, how it is accessed, some of its challenges and how it has successfully helped patients with rare diseases.

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