Skip to main content

Genome Therapeutics, Creighton University Uncover Genetic Link to Osteoporosis

NEW YORK, Dec. 20 — Researchers at Genome Therapeutics and Creighton University, in Omaha, Neb., have identified a mutation that may suggest new treatments for osteoporosis.


Their research, which describes a mutation in the LRP5 gene that leads to increased bone mass, is described in a study in the January issue of the American Journal of Human Genetics.


Researchers discovered the mutation through DNA analysis of a family with extraordinarily dense bones. All family members with the high bone mass trait had the same mutation: a single-point change in the LRP5 gene on chromosome 11 that corresponds to lipoprotein receptor-related protein 5.


LRP5 has previously been shown to play a role in skeletal integrity, and other mutations in the gene lead to bone brittleness. Researchers at the university and the company hope to exploit this knowledge to develop a new class of treatments for osteoporosis that could actively build bone mass.


Osteoporosis, or thinning and weakening of bones, is chronic and is said to affect 10 million people in the United States annually. One in two women and one in eight men over 50 will have an osteoporosis-related fracture, according to the National Osteoporosis Foundation. However, current treatments for this common condition are limited to slowing bone loss.


Genome Therapeutics and Creighton University launched their research alliance in 1997, whereby the company gained access to families with the high bone mass trait that university scientists had identified. Creighton, based in has a center for research into osteoporosis.


Genome Therapeutics also has a research alliance with Wyeth-Ayerst for drug development for osteoporosis prevention and treatment. The genomics company has already received a milestone payment for its work identifying this gene.

The Scan

US Supports Patent Waivers

NPR reports that the Biden Administration has announced its support for waiving intellectual property protections for SARS-CoV-2 vaccines.

Vaccines Versus Variants

Two studies find the Pfizer-BioNTech SARS-CoV-2 vaccine to be effective against viral variants, and Moderna reports on booster shots to combat variants.

CRISPR for What Ails You

The Wall Street Journal writes that CRISPR-based therapies could someday be used to treat common conditions like heart attacks.

Nature Papers Review Integration of Single-Cell Assay Data, Present Approach to Detect Rare Variants

In Nature this week: review of ways to integrate data from single-cell assays, and more.