Many different types of cells in the body have a tiny projection known as a primary cilium. These cilia act like little signaling hub that can capture information about a cell’s environment and relay it to the cell, ultimately coordinating some cellular responses. The functions of cilia are well known in a few cases, such as in development, where they are crucial to the regulation of certain processes; or in some disorders called ciliopathies, in which genetic mutations lead to ciliary dysfunction and human disease.

The discovery of two new genetic disorders comes from a study delivered through the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Center (BRC) and The University of Manchester and could provide answers for several thousands of people with neurodevelopmental conditions around the world.

Since the breakthrough, 18-year-old Rose Anderson from Stretford in Manchester has received a diagnosis of one of the newly discovered conditions.

Rose has been known to the team at the Manchester Center for Genomic Medicine at Manchester University NHS Foundation Trust (MFT) for nearly her whole life, although a precise diagnosis for her seizures and developmental delay has proved difficult to find.

With grim prognosis hanging overhead, doctors and scientists at universities and institutions across the U.S. worked tirelessly to develop the world’s first custom gene-editing therapy to save the life of a newborn.

A study led by biomedical scientists at the University of California, Riverside School of Medicine shows how a genetic mutation associated with Crohn’s disease can worsen iron deficiency and anemia—one of the most common complications experienced by patients with inflammatory bowel disease, or IBD.

While IBD—a group of chronic inflammatory disorders that includes Crohn’s disease and ulcerative colitis—primarily affects the intestines, it can have effects beyond the gut. Iron deficient anemia is the most prevalent of these effects, contributing to chronic fatigue and reduced quality of life, particularly during disease flare-ups.

The study, performed on serum samples from IBD patients, reports that patients carrying a loss-of-function mutation in the gene PTPN2 (protein tyrosine phosphatase non-receptor type 2) exhibit significant disruption in blood proteins that regulate iron levels. This mutation is found in 14–16% of the general population and 19–20% of the IBD population. A loss-of-function mutation is a genetic change that reduces or eliminates the normal function of a gene or its product, a protein.