BioSpace.com

Biotech and Pharmaceutical
News & Jobs
Search the Site
 
 
Biotechnology and Pharmaceutical Channel Medical Device and Diagnostics Channel Clinical Research Channel BioSpace Collaborative Employers
  Post Job | Search Resumes | Login

NEWSLETTERS
Free Newsletters
Archive
My Subscriptions

NEWS
News by Subject
News by Disease
News by Date
PLoS
Search News
Post Your News
JoVE

CAREER NETWORK
Job Seeker Login
Most Recent Jobs
Browse Biotech Jobs
Search Jobs
Post Resume
Career Fairs
Career Resources
For Employers

HOTBEDS
Regional News
US & Canada
  Biotech Bay
  Biotech Beach
  Genetown
  Pharm Country
  BioCapital
  BioMidwest
  Bio NC
  BioForest
  Southern Pharm
  BioCanada East
  US Device
Europe
Asia

DIVERSITY

INVESTOR
Market Summary
News
IPOs

PROFILES
Company Profiles

START UPS
Companies
Events

INTELLIGENCE
Research Store

INDUSTRY EVENTS
Biotech Events
Post an Event
RESOURCES
Real Estate
Business Opportunities

Powered by Business Wire
Biotechnology Headlines

University Hospital Bonn Launches New Technology to Help Geneticists Worldwide Find the Genetic Cause of Rare Syndromes

Partnership with U.S.-Based FDNA Will Combine Next-Generation Genetic Sequencing with Next-Generation Phenotyping to Make First Link between Genes and Clinically-Defined Syndromes

BONN, Germany--(BUSINESS WIRE)--Hundreds of rare syndromes afflict patients around the globe for which the genetic cause has yet to be understood. By identifying the genetics behind the diseases, a whole new breadth of research and medical interventions becomes possible. Today, Institute for Genome Statistics and Bioinformatics, IGSB, and the Institute of Human Genetics, IHG, Bonn, announce a new technology partnership to do just that.

“The hope of this program is to unite clinicians worldwide in the pursuit of answers for patients, which they so richly deserve”

Through a partnership with Boston-based FDNA, clinicians worldwide can now instantly upload qualifying, de-identified case information to IGSB for a full assessment, including facial analysis and genetic testing, helping researchers in discovering the genetics that underlie many rare diseases. The program is called PEDIA2 (Prioritization Of Exome Data By Image Analysis), and comes on the coattails of PEDIA, which is measuring the impact of phenotype and facial analysis data on molecular interpretation.

“The hope of this program is to unite clinicians worldwide in the pursuit of answers for patients, which they so richly deserve,” said Prof. Peter Krawitz, head of IGSB. “The use of next-generation phenotyping, including facial analysis, can help researchers identify the genetic variations that are being clinically manifested and causing these syndromes. This will open up possibilities for other research into disease pathways and potential therapies such as gene therapy.”

FDNA’s technology, Face2Gene, is used by clinical geneticists worldwide to evaluate syndromes, genes and phenotypes that correlate with patients’ facial and clinical analysis. The technology compares patient clinical phenotypes and facial analysis to known disease-causing genetic variants, supporting clinicians as they diagnose their patients.

“This is a unique and groundbreaking use of facial analysis in precision medicine,” said Dekel Gelbman, CEO, FDNA. “IGSB is using FDNA’s next-generation phenotyping approaches to better understand disease genetics. This will make an impact on many patients’ lives.”

About IGSB

The IGSB is a recently founded institute at the University of Bonn School of Medicine and the University Hospital Bonn, that collaborates with the Institute of Human Genetics on precision medicine. The IGSB is also leading the PEDIA study, which aims at improving exome interpretation by including results from automated image analysis. If you would like to discuss whether your patient is eligible, please contact pkrawitz@uni-bonn.de. For more information, visit www.igsb.uni-bonn.de

About IHG

The IHG at the University of Bonn School of Medicine and the University Hospital Bonn is providing diagnostic services for a wide range of genetic diseases. For more information, visit https://www.humangenetics.uni-bonn.de.

About FDNA and Face2Gene

FDNA is the developer of Face2Gene, a clinical suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. Face2Gene uses facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of rare disease patients. For more information, visit www.FDNA.com.

Contacts

Institute for Genomic Statistics and Bioinformatics
Prof. Dr. med. Dipl. Phys. Peter Krawitz, +49 228 287 14799
pkrawitz@uni-bonn.de
http://www.igsb.uni-bonn.de