SAN DIEGO, Aug. 19, 2015 /PRNewswire/ — Cypher Genomics, Inc., the leading genome informatics company, in partnership with the Rare Genomics Institute, today announced winners in the 2015 BeHEARD Challenge. BeHEARD is a global competition that funds projects submitted by researchers studying rare diseases or individuals affected by them, awarding them with technology prizes that will facilitate their projects.
Two winners will have access to Cypher’s Mantis™ software, which provides a comprehensive, unbiased interpretation of genomic sequencing data and helps researchers quickly zero in on genetic variants of clinical significance.
The prize winners will work with Cypher to investigate the genetic causes of two diseases; the first is designed to identify the genetic basis of a skin disorder linked to human papilloma virus (HPV), which may uncover clues to how otherwise healthy individuals can better resist HPV infection, a major contributor to cervical cancer. The second project will analyze the genetic underpinnings of a complex autoimmune disease that could reveal important clues to mechanisms driving other autoimmune conditions such as type 1 diabetes.
“It is important to study rare diseases, not only to help the individuals and families impacted by these difficult conditions,” said Dr. Ashley Van Zeeland, co-founder and CEO of Cypher Genomics, “but rare diseases also offer us an opportunity to gain insights into biological phenomena that are related to other, more common, disorders which can be difficult to characterize in the population at large.”
Discovered in the Indonesian jungle, the skin disorder epidermodysplasia verruciformis (EV) has been found only in individuals of Indonesian and Dutch-Indonesian descent. The disorder causes extreme wart growth upon exposure to HPV types 1 and 2. The first person identified with this disease was nicknamed the “Treeman” because his hands and feet resemble tree bark due to dense wart growth. Cypher will partner with Dr. W. Martin Kast, professor of molecular microbiology and immunology at the University of Southern California, who discovered the disease, to identify the gene or genes responsible by analyzing three affected individuals, as well as healthy donors of Indonesian or Dutch-Indonesian descent. Identifying the genes and mechanisms responsible for EV could inform development of treatments to help clear HPV infections in the general population, reducing the cancer risks associated with this group of viruses.
The second grant will fund study of autoimmune polyglandular syndrome-1 (APS-1), a disease that causes autoimmunity against multiple organs, including the pancreas which in these cases leads to insulin-dependent diabetes. The gene responsible for APS-1 is known, but extensive variation in symptoms across patients suggests that additional genes play a role in how the disease manifests. Even siblings carrying identical mutations, for example, display autoimmunity against different organs. Cypher will partner with Dr. Michail S. Lionakis, head of the Fungal Pathogenesis Unit at the National Institute of Allergy and Infectious Diseases (NIAID), to analyze the genomes of 60 affected individuals and family members. The aim of the study will be to identify the additional genetic variants that determine which organs are attacked in different patients. A greater understanding of the genetics underlying autoimmunity in APS-1 may lead to ways to treat more common autoimmune disorders such as type 1 diabetes.
In the 2015 BeHEARD (Helping Empower and Accelerate Research Discoveries) Challenge, the Rare Genomics Institute has awarded $600,000 to research projects employing a variety of leading edge technologies. For more information about BeHEARD, please visit the Challenge website.
About Cypher Genomics
Cypher Genomics is a leading genome informatics company offering a highly accurate, rapid and robust interpretation software solution for users of human genome sequencing. The proprietary, automated genomic interpretation platform allows clinical laboratories to tune Cypher Genomics’ market leading sensitivity and specificity profiles to develop molecular tests for diagnostic and prognostic use and pharmaceutical companies to discover biomarkers from whole genome sequence data in sample sizes typical of early stage drug development studies. Through MantisTM, the genome interpretation software as a service offering, and CoralTM, a biomarker discovery service, Cypher Genomics can improve health care and reduce costs by facilitating improved diagnostic accuracy and earlier interventions, optimizing therapeutic approaches and reducing adverse drug reactions. Cypher Genomics is located in San Diego, California.