Visit Our Blog
  • FDNA TELEHEALTH
  • Products
    • Face2Gene Labs
    • Face2Gene Clinic
  • About FDNA
  • News & Press
    • In The News
    • Press Releases
  • Contact
  • FDNA Insights

FDNA Insights

Categories
  • All
  • 2018
  • ACMG
  • Case Study
  • Events/Conferences
  • Face2Gene
  • Genomics
  • Pharma
  • Pharma
  • Phenotyping
  • Rare Diseases
  • Scientific Abstracts
  • Talks
  • Technology
  • Uncategorized
  • Videos
  • Webinar

Rare Diseases

Rare Diseases
 

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

Rare Diseases
 

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

Rare Diseases
 

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

Phenotyping
 

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

Rare Diseases
 

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

Phenotyping
 

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

Phenotyping
 

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

Phenotyping
 

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

Phenotyping
 

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

Phenotyping
 

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

Phenotyping
 

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

Rare Diseases
 

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

Events/Conferences
 

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

Events/Conferences
 

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

Rare Diseases
 

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

Phenotyping
 

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

Phenotyping
 

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

Rare Diseases
 

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

Rare Diseases
 

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

Phenotyping
 

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

Posts navigation

Older posts
  • Contact Us
  • Privacy Policy
  • Terms of Use

Signup for News


* These fields are required.

© 2011-2021 FDNA INC. www.FDNA.com. All rights reserved.

Face2Gene is a search and reference tool provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions.