Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Aa8db82e 7e4c 449e a62e a93689d6e9ea copy

December 2018 Newsletter

Publication date: 19 Dec 2018


Gene Repair Offers Hope and Challenges

Many rare disorders originate from gene mutations— typos in the DNA that disrupt normal cellular functions. What if it were possible to fix errors in DNA sequences that cause genetic diseases? Would this permanently cure the disease? Can genes be mended as easily as jeans? Not yet, but interestingly, the concept is not beyond the realm of possibility.

In recent years, scientists have learned how to manipulate a precise DNA cutting mechanism found in bacteria called CRISPR. This system is used by microorganisms to defend themselves from foreign DNA by comparing invading sequences to those stored on a genetic “wanted list." If there’s a match, the DNA is cut. By co-opting this bacterial machinery, DNA sequences of any type, including those of disease-causing genes, can be cut. Once cut, DNA repair mechanisms can be harnessed to insert a corrected sequence and the genetic patch is completed.

Read More

RareShare’s 10th Anniversary

RareShare celebrated its 10th anniversary this year. It started in early 2008, when two generous, idealistic men, David Isserman and Eric Steele, thought there should be a better way to bring together rare-disease patients, families and healthcare professionals to share knowledge, personal experiences and find emotional support. The idea took hold, as the web-based platform grew its membership and expanded its informational content. In 2014, RareShare was transferred to the Rare Genomics Institute, which continued to develop the website with its team of dedicated volunteers.

Read More
Rare Genomics Featured in German Documentary

Last October, the Nonfiction Society featured Rare Genomics Institute (RG) in a science documentary which aired on German public television. The documentary highlighted "Medical research on the move-- where organizations take the initiative instead of blaming failing healthcare gaps or the pharmaceutical industry." Follow the link below to learn more about RG's efforts.
Read More
New on Listen to our latest podcast with Anna Laurent, a 23-year old born with Alagille Syndrome, as she discusses overcoming challenges, treatment experiences, participating in research, and disease advocacy.

Check out our latest news links and our new communities for N-acetylglutamate synthetase deficiency (NAGS) and childhood onset neurodegenerative disease with brain atrophy (CONDBA). Read about patient recruitment for a Danon Disease study.
"Know who else has genetic mutations-- Superheroes."

It is that time of the year again, RG is gearing up for our End of Year fundraiser. As a volunteer organization, all of our staff work pro-bono for rare disease families. We rely solely on donations to stay up and running. That means being able to pay for our website, application system and needed software to do our work. We are asking you to make a tax deductible contribution to RG so that we can continue to fight for our rare disease patients!
Donate Now
If you would like to participate in the Superhero theme, we are asking donors to show their inner superheroes. Any of the three options below can be shared on RG social media channels.
  • Tell us who your superhero is and pledge your donation in honor of them.
  • Show us who your superhero is by sharing a picture of your superhero with us.
  • Or pick your favorite superhero and send us a picture or a video with you dressed as them.
Superhero Pledge
Copyright © 2018, Rare Genomics Institute, All rights reserved.

Our mailing address is:
Rare Genomics Institute, 8504 Firestone Blvd., #198
Downey, CA 90241