Logo

Extreme Genomics, Not Unlike Extreme Skateboarding

May 12, 2009

A Tech Review blog post discusses the work of Richard Lifton, who studies human outliers, so-called "extreme phenotypes" -- including a man with extremely high bone density. Lifton found a link to bone density with a mutation in the LDL-related receptor protein 5 gene and, now, a drug targeting part of that molecular pathway is in clinical testing to treat osteoporosis.

Breaking News
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.