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Welcome to Gaucher Today. This month we share our recent blog post on what we know about the different types of Gaucher disease, as well as information on our upcoming patient meeting in San Diego.

As part of our goal to increase awareness of Gaucher disease as well as decreasing the time to obtaining an accurate diagnosis, we have launched our "Spit Happens" campaign to encourage individuals to learn more about their genetic makeup. NGF is collaborating with Jscreen through the end of the calendar year by offering carrier screenings for Gaucher disease and 100 other diseases with no out of pocket expenses. Visit for more information.

In addition to Gaucher disease education and research, your support to NGF helps provide patient centered services, including the CARE financial assistance programs for people with Gaucher disease and their families. Please consider an end of year gift to support our programs.
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What We Know:
3 Types of
Gaucher Disease

While separating the three types of Gaucher disease is useful for diagnosis, researchers today see them as a spectrum of characteristics that blend together. Symptoms and disease progression are highly variable among individuals, even those with the same disease type or genetic mutation.

Read the full post

Meet Ted, Artist
and Patient Advocate

In 1963, Ted was diagnosed with Gaucher disease type 1 at five years old. Enzyme Replacement Therapy wasn’t FDA approved until 1991, so Ted spent many years living with this disease and without any treatment. He draws on his experiences to help patients, students and medical professionals...

Read the full post


The National Gaucher Foundation invites you to an educational meeting about Gaucher disease.

Sunday, February 12 2017
4:00pm - 6:00pm

Manchester Grand Hyatt Hotel
1 Market Pl
San Diego, CA 92101

Presentations by:
Brian Berman
President & CEO
National Gaucher Foundation

Pramod Mistry, MBBS, PhD, F.R.C.P.
Professor of Medicine and Pediatrics, Yale School of Medicine
Director of Yale Lyosomal Disease Center and Gaucher Disease Treatment Center

Click here to learn more. 


Sanofi Genzyme Announces TORCH

Sanofi Genzyme announced the first annual TORCH Awards this month. The TORCH Awards are your opportunity to recognize individuals of all ages who have made a significant contribution to the Lysosomal Storage Disorder (LSD) community. Learn More >>

Are you an adult 18 – 65 years of age who has been diagnosed with Gaucher disease and are not currently receiving treatment (within the past 12 months)? If so, there is a new research protocol enrolling participants that may be for you. The research focuses on the possible improvement in bone involvement associated with Gaucher disease.
This study is recruiting patients at several sites throughout the world. For more information, please click here.


  • WORLDSymposium; February 13, 2017; San Diego, CA
  • Rare Disease Day; February 28, 2017
Click here for more information and to see more upcoming events. 
Copyright © 2016 National Gaucher Foundation, Inc., All rights reserved.

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