PATIENT STORIES OF HOPE AND INSPIRATION – ‘Meet Mabel’
‘MEET MABEL!’ Our daughter, Mabel, is 18 months old. Mabel has all the symptoms of a syndrome or disease yet everything we find in her blood work is so ‘rare’ that we are left without a solid answer. Our hope is that research can catch up with Mabel’s symptoms faster than they progress. Sadly, it [...]
ACTION ALERT: Costs of Caring for Children with Rare Disease Survey
Shivani B. Nazareth, RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc, is conducting an anonymous survey to better understand the financial cost of caring for a child with a rare genetic disease. By participating in this survey, you will contribute to a research paper that will quantify the financial burdens endured by parents of [...]
FREE Summer Conference for Young Adults Living with Metobolic/Genetic Conditions
“ You’re Invited!!!” The Face Forward is for young adults with rare genetic, metabolic, and mitochondrial conditions. The mission of the project is to develop leadership, advocacy and life skills, in order to achieve good health, positive behavior, socioeconomic success and civic engagement. It is for young adults with aspirations to one day live an [...]
Genetic Diseases In Children (GDC) Conference – A Grand Slam!
The Wadsworth Center, March 7-10, NYC at, was host to the Genetic Diseases In Children Conference. My recommendation . . . make it to the meeting next year! Here’s why! Most conferences discuss theories, postulate and talk a lot about ‘what can and should be done’ about a topic. The GDC Conference created an agenda [...]
Families look to orphan drug development at University of Minnesota
Orphan diseases affect 25 million people in the United States. By Taylor Selcke, MN Daily.com For Michael Zimanske, years of holidays and birthdays spent in hospitals began after a routine kindergarten check-up. The doctor said he wasn’t growing like a normal 5-year-old, and full body X-rays revealed the abnormalities in his joints. It took two [...]
NIH Coalition of Patient Advocacy Groups Convene – Global Genes Represented
Last week the NIH Office of Rare Diseases Research hosted it’s annual Rare Disease Clinical Research Network meeting. As a prelude to this sold out event, RARE Project was asked to speak about ‘Grassroots Activities in Rare Diseases’ of which Global Genes Project/Fund was presented, during the Coalition of Patient Advocacy Groups (CPAG) Meeting. In [...]
Charleston|Orwig Goes Blue For Global Genes Project supporting rare disease!
I’ve heard of going green but going blue is good too. That’s what the staff at Charleston|Orwig, Inc. is doing by wearing blue jeans each day during September. They’re doing it “not for comfort, but for hope.” Wearing jeans serves as a reminder to vote for the Global Genes Project in the online Pepsi Refresh [...]
Ella – Shine the Light on Aniridia
hortly after being born in 2006, Ella was diagnosed with WAGR syndrome, a rare chromosome disorder. Now, their parents are looking for a treatment that could save her eyesight.
R.A.R.E. Project's, Jonathan Jacoby to present at FDA Hearing on Rare Disease
On Tuesday, June 29, 2010, and Wednesday, June 30, 2010, FDA’s Office of Orphan Products Development will host a two-day public hearing and Webcast on the Development of Articles for Rare Diseases. This public hearing is intended to gain from health care providers, academia, industry, patients, and other interested persons their perspectives on various aspects [...]
International Batten Disease Awareness Weekend (June 4-6)
This weekend is International Batten Disease Awareness Weekend, an event intended to unite people worldwide to pursue the common goal of raising awareness and understanding of this rare genetic disease, while also enhancing fundraising activities and providing hope to children and families living with Batten.