Skip to main content
Premium Trial:

Request an Annual Quote

Metabolon, Baylor Partner to Screen for Inborn Metabolic Disorders

NEW YORK (GenomeWeb) – Metabolon said today it has struck an agreement with Baylor College of Medicine to provide Global Metabolomics-Assisted Pathway Screening (MAPS) services for patients who may have inborn errors of metabolism (IEMs).

Under the exclusive agreement, Metabolon will provide its metabolomics platform to identify IEMs that otherwise would require multiple tests and to define biochemical pathway errors that are not currently detected by routine clinical or genetic testing. The Research Triangle Park, NC-based company will provide the resulting data to Baylor's Department of Molecular and Human Genetics where it will be interpreted and assessed.

"Baylor and clinicians around the world are currently screening patients using two, five, or even 10 biochemical tests that often require shipment to many different labs to determine whether a patient might have a metabolic disease," Baylor Professor Arthur Beaudet said in a statement. "Global MAPS will provide us with a single test that can assist in the diagnosis of a broad range of disorders and recognize new IEMs never before described."

IEMs are inherited metabolic disorders that prevent the body from converting one chemical compound into another, or for transporting compounds in or out of cells or between cellular compartments, processes that are necessary for bodily functions. There are several hundred recognized IEMs, although state public health programs only screen for around 40 disorders or less. A rapid and accurate diagnosis of an IEM can help physicians prescribe the right diet or medication and can help prevent brain and organ damage or even death, Metabolon said.

Metabolon CEO John Ryals said metabolomics is "particularly well-suited" for testing for IEMs. "Our ability to zero in on patient-specific metabolic disturbance and identify biomarkers might help physicians make a diagnosis more rapidly and also guide long-term clinical management with follow-up monitoring."

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

Sequencing Analysis Examines Gene Regulatory Networks of Honeybee Soldier, Forager Brains

Researchers in Nature Ecology & Evolution find gene regulatory network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.