A Rare Disease Day Reflection
Rare diseases affect roughly 30 million Americans, yet only 5 percent of the estimated 7,000 known rare diseases have cures Read more
Moms on a Mission for Rare Disease Advocacy
Change in healthcare comes in many forms. Some say it’s legislature. Some say it’s technology. Some will cite time and Read more
FDNA Recognizes World Rare Disease Day 2018
Today is World Rare Disease Day 2018. At FDNA, we recognize that one day is simply not enough time to Read more
Skin Disorders Discoveries in the Year of Discovery
December Discoveries – Skin Disorders As part of FDNA’s Year of Discovery, FDNA collaborated with the National Foundation for Ectodermal Read more
Dexter’s Journey with Ectodermal Dysplasia
Photo from the National Foundation for Ectodermal Dysplasias (NFED) website. FDNA focused on skin disorders in December for the Year of Read more
Improving the Molecular Diagnostic Yield: Using Artificial Intelligence to Deliver Precision Phenomics
Genetic sequencing is becoming a more popular diagnostic tool; however, even with all the advancements, it only reaches a diagnosis Read more
Skeletal Dysplasia Discoveries in the Year of Discovery
October Discoveries – Skeletal Dysplasias As part of FDNA’s Year of Discovery, FDNA collaborated with the Little People of America, Read more
Craniosynostoses and Craniofacial Conditions Discoveries in the Year of Discovery
September Discoveries – Craniosynostoses and Craniofacial Conditions FDNA collaborated with the World Craniofacial Foundation, sponsored by Blueprint Genetics, to promote Read more
Seizure and Epilepsy-related Disorders Discoveries in the Year of Discovery
November Discoveries – Seizure and Epilepsy-related Conditions As a part of FDNA’s Year of Discovery, FDNA collaborated with the C.U.R.E: Read more
Baraitser-Winter Syndrome Facial Analysis Discoveries in the Year of Discovery
Lissencephalies and Other Brain Malformations FDNA collaborated with the American Brain Foundation, sponsored by Fabric Genomics, to promote awareness of Read more
Marfan Syndrome Facial Analysis Discoveries in the Year of Discovery
Spotlight On Congenital Heart Defect Syndromes, Aortopathies, and other Inherited Heart Conditions As part of FDNA’s Year of Discovery, GeneDx Read more
Morgan’s Story
“Morgan is so expressive. She smiles and she lights up the room. She just loves watching what’s happening and Read more
FDNA Presents Rare Disease Technologies at the 2017 Precision Medicine Summit at Boston Children’s Hospital
The Division of Genetics and Genomics Department of Medicine at Boston Children’s Hospital will present their exciting new Fall Precision Read more
Disorder: The Rare Disease Film Festival
Disorder: The Rare Disease Film Festival will be held October 2 & 3, 2017 in Boston, MA. This is a new event Read more
Izzy’s Journey with 22q and CHD
FDNA focused on congenital heart defect syndromes, aortopathies and other inherited heart conditions in July for the Year of Discovery. We are uniting Read more
Spotlight on Inherited Heart Conditions for the Year of Discovery
FDNA highlights inherited heart conditions in July for the Year of Discovery. We are uniting healthcare, advocacy and technology for rare Read more
Facial Analysis Discoveries for CHARGE Syndrome in the Year of Discovery
The performance of FDNA’s facial analysis technology, Face2Gene, was recently put up to the challenge of recognizing facial features of Read more
Tyler and Lauren’s Journeys with Bardet Biedl Syndrome
FDNA highlights eye disorders in June for the Year of Discovery. We are uniting healthcare, advocacy and technology for rare disease Read more
Emma and Naomi’s Journeys with Bardet Biedl Syndrome
Special thanks to Kathy Eby for sharing her daughters’ journeys and for co-authoring this post. Read her article on “Why Read more
Facial Analysis Discoveries for Sanfilippo Syndrome B (MPS IIIB)
In May, FDNA reached out to clinicians and patients globally as part of the Year of Discovery to collect and Read more