Gene CEP76 sheds light on cause of rare ciliopathy disorders

A Northwestern Medicine-led study has identified mutations in the gene CEP76 as a new cause of ciliopathies, shedding light on a complex group of disorders that affect multiple body systems, according ...

Extremely Rare White Iberian Lynx Caught on Camera by Amateur Photographer

An amateur photographer in Spain has captured captured a rare photo of a white Iberian lynx. Researchers believe it was a 4-year-old female named Satureja, who does not have albinism.
Open Access Government

Hidden DNA mutations in healthy people may reveal how cancer starts

Scientists using TwinsUK data and ultra‑precise DNA sequencing have uncovered rare DNA mutations in healthy tissue that could ...

A New Startup Wants to Edit Human Embryos

Seven years after the first gene-edited babies were revealed, biotech startup Manhattan Genomics is reviving the idea of ...
AZoLifeSciences on MSN

Mutation in NAMPT Gene Found to Cause Rare Neurological Disease

An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown genetic disease that affects movement and muscle control.

New rare genetic disease affecting motor neuron and muscle control identified

An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown ...

Genetic code reveals how mutations disrupt mRNA and cause disease

An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.
The Santa Fe New Mexican

Rare genetic mutation that brings threat of brain bleeding unusually common in New Mexico

Email notifications are only sent once a day, and only if there are new matching items. For Sakura Tafoya, it started with a header. The Santa Fe girl and her family were playing soccer on a fall day ...
ascopubs.org

Artificial Intelligence–Based Model Exploiting Hematoxylin and Eosin Images to Predict Rare Gene Mutations in Patients With Lung Adenocarcinoma

Accurately identifying gene mutations in lung cancer is crucial for treatment, while molecular diagnostic methods are time-consuming and complex. This study aims to develop an advanced deep learning ...
AOL

Deer with rare genetic mutation spotted in East Providence

EAST PROVIDENCE, R.I. (WPRI) — A white deer with patches of brown fur was spotted near the East Bay Bike Path. Photos provided to 12 News show the deer with mostly white fur standing on the other side ...
precisionmedicineonline

Mass General Researchers Move Toward Human Testing of CRISPR Therapy for Rare Vascular Disease

NEW YORK – Researchers at Mass General Brigham for the first time are advancing a CRISPR gene-editing treatment toward testing in individuals with a very rare vascular disorder. The research team, ...
Nanowerk

CRISPR tool detects rare cancer mutations in blood with high precision

A CRISPR system detects rare cancer mutations in blood with single-nucleotide precision, outperforming ddPCR through engineered RNA guides and isothermal amplification. (Nanowerk Spotlight) Hidden ...