Skip to main content
Premium Trial:

Request an Annual Quote

Gene42, SeqOne Partner for Rare Disease Diagnosis

NEW YORK (GenomeWeb) – Startups in Canada and France are combining their genomic analysis and machine learning technology in pursuit of faster, more accurate diagnoses of rare conditions.

Toronto-based Gene42, maker of software that supports precision medicine programs, is partnering with SeqOne, a French developer of a genome analysis platform, to augment gene sequences with phenotypic data from clinical encounters. This collaboration, the companies said today, will address the estimated 80 percent of rare diseases with genetic causes.

Gene42 makes PhenoTips, software that helps clinicians capture and standardize phenotypic information at the point of care. SeqOne's platform can run phenotypes through its machine learning engine to help pinpoint the gene responsible for an otherwise undiagnosed condition.

"The collaboration between SeqOne and PhenoTips creates the opportunity to accurately diagnose more patients in a shorter period of time," SeqOne CEO Nicolas Philippe said in a statement. His company is a spinout of AxLR SATT, a tech incubator in Montpellier, France.

"Capturing the doctor's medical observations in a standardized way makes it much easier to interpret the patient’s genome," added Gene42 CEO Orion Buske.

The companies said that they ran a pilot study in France in which the combination of PhenoTips and SeqOne "significantly" improved diagnostic yield and shortened interpretation time in a group of patients with rare diseases. They did not provide any data, but said they were organizing a larger and broader study to confirm the results.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.