Variant Analysis Helps Mt Sinai and the Center for Applied Genomics Advance Rare Disease Studies

children'shospital mountsinai

We are very pleased to announce two separate collaborations with leading research institutions, the Mount Sinai Genetic Testing Laboratory and the Icahn Institute for Genomics and Multiscale Biology and the Center for Applied Genomics (CAG) at the Children’s Hospital of Philadelphia (CHOP).  Each has adopted Ingenuity Variant Analysis for use in projects focused on the study and diagnosis of rare childhood diseases.

According to the National Organization for Rare Diseases, approximately 6,800 diseases are defined as rare. About 80 percent of rare diseases are genetic in origin and it is estimated that about half of all rare diseases affect children. But for many of them, the underlying genetic drivers are unknown

Identifying specific disease-causing variants from large-scale whole genome and exome studies, as well as from targeted panels, is difficult and time-consuming due to the large number of variants within these data sets and the inherent complexity of creating associations within human biological systems.

The Genetic Testing Lab and Icahn Institute chose Ingenuity Variant Analysis because of its accuracy and ease of use for clinical and laboratory geneticists and other professionals investigating links between known mutations and rare diseases, according to Eric Schadt, Ph.D., Director of the Icahn Institute for Genomics and Multiscale Biology.

“In our efforts to provide answers to families who may have spent years on a frustrating and painful diagnostic odyssey, this ability to dramatically accelerate the process of getting to a medically relevant insight is invaluable,” Dr. Schadt said in our announcement of the collaboration. “Our mission is to bring to bear as much information as possible to help each patient. The combination of Ingenuity Variant Analysis and the Ingenuity Knowledge Base is an essential part of achieving that goal.”

In addition to the translational genomics applications, research scientists and medical students at the Icahn Institute will also use Variant Analysis to perform detailed analyses of their own genomes.

Led by Hakon Hakonarson, M.D., Ph.D., Director of CAG and CHOP Associate Professor, CAG’s primary goal is to translate basic research findings into medical innovations. Ultimately, the center’s objective is to discover genetic markers that can accurately diagnose patient subsets with genetic abnormalities that guide physicians to the most appropriate therapies for them.

“The search and biological interpretation of causal variants in NGS data is the critical bottleneck in large scale NGS studies aimed at understanding rare diseases in children,” said Dr. Hakonarson.  ”We have integrated Ingenuity Variant Analysis into our bioinformatics pipeline to make the search for the rare events more streamlined and improve our ability to rapidly identify high-impact variants from thousands of rare disease patients.“

We are very pleased to be working with Drs. Schadt and Hakonarson as they roll out Variant Analysis for everything from the interrogation of next-generation sequencing data and physician-ordered genome tests to training a new generation of genome-savvy clinicians.