Tag: genetic disease

A total of 11 posts are filed under genetic disease
Mini Toolkits Based on Popular 2015 RARE Webinars Launch
Approximately 80 percent of the close to 7,000 rare diseases are caused by genetic changes. Although many people may value their privacy and… Continue Reading
Baby Sisters Born One Year Apart Both Lose Battle To Fatal Disease Called Non Ketotic Hyperglycinemia
My name is Jennifer and on May 16, 2002, I gave birth to a little girl named Clover Dawn and we were sent home with a clean bill of health.… Continue Reading
Poem Called “I Am The Child” Shows Love Gained By Having Special Needs Child With Phelan McDermid Syndrome
My name is Andrea and my son Andrew has Phelan McDermid Syndrome (aka 22Q13 deletion). This genetic disorder is caused by a microdeletion on… Continue Reading
Joanna Has Hope Despite Suffering From Primary Immune Deficiency Disease (PIDD)
My name is Joanna and I was born with hypogammaglobulinemia, which is a Primary Immune Deficiency Disease (PIDD) and a genetic defect of the… Continue Reading
The Layne Less Traveled – Life Dealing with Tuberous Sclerosis
Nothing can tell our story better than what I have documented on our blog. Traveling back through time re-reading the words that I once… Continue Reading
Global Genes and R.A.R.E. Project Announce Tribute to Champions of Hope™ Gala to Honor Rare and Genetic Disease Pioneers, Innovators and Advocates
Henri Termeer, Biotech Legend and former President and CEO of Genzyme, To Receive Lifetime Achievement Award; Nominations Now Being Accepted… Continue Reading
Costs of Caring for Children with Rare Disease – A Survey by Counsyl
Shivani B. Nazareth, RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc, is conducting an anonymous survey to… Continue Reading