LEUVEN, Belgium — July 14, 2016 — Diploid today announces an update of InHelix, its software for CNV analysis in rare disease diagnostics. InHelix now integrates with Face2Gene, a software platform that facilitates detection of facial dysmorphic features from facial photos. The integration between the two apps allows clinicians to directly access and use dysmorphic patterns detected by Face2Gene from within InHelix, making CNV analysis more accurate and efficient. In addition, InHelix users can auto-import general patient information.
“Face2Gene has been a game changer in rare disease diagnostics” says Dr. Aimé Lumaka, Diploid’s CMO. “It has finally introduced an objective, computer-aided dimension to the science of dysmorphology. Numerous clinicians report that it helps them to establish a correct diagnosis that might not be considered otherwise. As a tool for CNV analysis in rare disease diagnostics, one of InHelix’s strengths is to integrate as much phenotype data as possible. By interfacing with Face2Gene, we are making it even easier for our clients to leverage phenotype data, strengthening our lead in this area.”
Call for Research Proposals Issued at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting 2016
FDNA Inc. (Boston, MA) issued today a call to geneticists to submit research proposals to the third cycle of the GIVE A FACE TO A SYNDROME research program. The announcement coincides with the American College of Medical Genetics and Genomics (ACMG) Annual Meeting.
The third cycle of this research program will focus on the use of FDNA’s standardized and deep phenotyping technology, available through Face2Gene, to associate phenotypic features with genetic variants, demonstrating the potential of improved diagnostic yield of variant analysis.
“After the overwhelmingly positive outcome of the two previous cycles, resulting in numerous publications, talks and abstracts in some of the most prestigious venues in the world, we decided to further strengthen our partnership with the genetic research community,” said Nicole Fleischer, Head of Research Collaborations at FDNA.
Individuals and institutions interested in joining the third cycle of the GIVE A FACE TO A SYNDROME research program should submit a short proposal by 5:00 PM Eastern time on June 30, 2015. The call for research proposals is available to all geneticists worldwide and does not include financial support. Study results will be shared with the scientific community and may serve as the basis for scientific publication by the collaborators. Collaborators will receive full credit for their participation in the program. Applicants are invited to submit proposals in this link http://www.fdna.com/rfp/
Questions can be directed to info(at)fdna.com, or stop by booth #505 at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting in Tampa, Florida, March 9-11.
Grant available exclusively for cases uploaded through the Face2Gene Online Unknown Forum
FDNA Inc. (Boston, MA) announced a new grant program for patients with an unknown diagnosis. Under this grant, FDNA will sponsor for genetic testing to be performed for patients with cases uploaded through the Face2Gene Online Unknown Forum.
The announcement was made at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting in Tampa, Florida and coincided with an announcement made at the Diagnostic Challenges session.
“FDNA is committed to making a positive impact, not only in the field of genetics, but also in the lives of patients,” said Dekel Gelbman, FDNA’s Chief Executive Officer. “These grants for genetic testing represent real hope for patients in our Face2Gene Online Unknown Forum, many of whom have exhausted their options for finding an answer to their symptoms.”
FDNA is inviting reference labs to join this initiative and extend this philanthropic effort so that more patients can get relief and conclude their diagnostic odyssey.
Genetic testing grants will be awarded to five patients, based on selection of a review committee made up of expert dysmorphologists.
Individuals and institutions interested in learning more about these grants, or who wish to partner with FDNA in this initiative can contact FDNA at info(at)FDNA(dot)com.