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 [...]
RARE DISEASE RESEARCH – Center for Applied Genomics
Rare Disease Research at the Center for Applied Genomics: Discovering the genetic variants that cause rare disease are essential to delivering better diagnoses, improved treatments, and preventive medicine. The most accurate and cost-effective method of achieving this goal is to sequence the genomes of affected patients, as well as their first-degree relatives. At the Center [...]
PATIENTSLIKEME AND R.A.R.E PROJECT UNITE TO FIND AND CONNECT ONE MILLION RARE DISEASE PATIENTS
Well received and well attended – Nonprofit and “Not Just for Profit” Announced Collaboration at the PartneringForCures Event! Excitement within the RARE Disease community around the PLM/RARE partnership. NEW YORK, NY – November 7, 2011 – Today, PatientsLikeMe and R.A.R.E Project, a nonprofit advocacy and support group for patients with all rare diseases, announce a [...]
Your Invited! Regional Essential Health Benefits Sessions
The Affordable Care Act ensures Americans have access to quality, affordable health insurance. To achieve this goal, the law ensures plans offered in the new Affordable Insurance Exchanges offer a package of essential health benefits, which are to be defined by the Department of Health and Human Services (HHS). The statute directs the Secretary to [...]
WALL STREET JOURNAL REPORTS – When Patients Ban together
Using Social Networks To Spur Research for Rare Diseases; Mayo Clinic Signs On By RON WINSLOW When Katherine Leon began feeling crushing chest pain six weeks after the birth of her second child, doctors were perplexed about what was causing her symptoms. Ms. Leon was then 38 years old and healthy, and doctors didn’t believe [...]
Counsyl Has Generously Donated Free Genetic Tests to Help Raise Awareness of SMA
August 28, 2011 By Bill Strong At the Gwendolyn Strong Foundation, we want as many people as possible to know that 1 in 40 people unknowingly carry a severe mutation in the SMA gene. Getting tested before pregnancy is one of the best ways to make sure that your child does not fall victim to a possibly [...]
Innovation at the Margins: Rare Disease Research
Rare disease research is on the rise, and that’s good news for the 25 million rare disorder patients in the U.S. In fact, it’s good news for all of us, because the insights that we gain from this research can lead to pharmaceutical innovations that extend beyond the rare sphere, affecting the medical industry as [...]
Nature.com Reports – Rare-Disease Studies Seek Online Giving
Website invites micro-donations for unusual illnesses ~ Amber Dance The Global Genes Fund seeks online donations for conditions such as progeria, a rare disorder that causes accelerated aging. Those wanting to raise awareness about a rare disease will be able to take advantage of an initiative being launched later this year: a website that connects [...]
A NEW START FOR GENE THERAPY FOR 'BUBBLE BOY' DISEASE Children's Hospital Boston Reports
First U.S.-treated patient doing well! Agustín has a form of X-linked Severe Combined Immunodeficiency (SCID-X1), better known as “bubble boy disease.” It affects only boys, leaving their bone marrow unable to make T-lymphocytes—white blood cells that fight infection. But now, after participating in a gene therapy trial at Children’s Hospital Boston, Agustín’s T cell function [...]
Global Genes Project and 46NYC Launch ‘Treat46le’ T-Shirt For Rare Disease Awareness
Treat46le T-shirt Honors Millions of Rare Disease Patients Living Without Hope 46NYC (www.46nyc.com) is helping raise awareness for an important cause – this time the drug development crisis facing the rare disease patient community worldwide. The New York-based clothing company has teamed up with the Global Genes Project to launch the ‘Treat46le’ t-shirt to create [...]