By Ruth SoRelle, M.P.H. Genetic or Mendelian mutation in a gene is often the cause of disease, but the symptoms of that disorder may stem from the burden of rare genetic variation – minute changes in the genetic material that make up a gene and occur in only a few people. The report from … Continue reading
Monthly Archives: August 2015
Rare gene variant associated with middle ear infections
By Ruth SoRelle, M.P.H. The persistent earache can begin in infancy and even persist into adulthood, resulting in many sleepless nights and a lot of pain. An international consortium led by those at Baylor College of Medicine may have taken the first step on the road to understanding why only some people get frequent painful … Continue reading
A matter of health — Staying the course in science
By Ruth SoRelle, M.P.H. More than 20 years ago, Dr. Huda Y. Zoghbi of Baylor College of Medicine and Dr. Harry Orr of the University of Minnesota were closing in on the gene for a particularly deadly neurodegenerative disease called spinocerebellar ataxia 1. The excitement in their laboratories was palpable as they literally “walked” the genome … Continue reading
Image of the month — DNA unwinds
DNA unwinds from Chromosome 20 at the 20q13 locus. SALL4 plays important roles in hematopoiesis (formation of blood cells) and leukemogenesis (initiating the blood cancer leukemia), including at the stem cell level. Illustration by Scott Holmes, CMI (DNA structure PDB ID:1BNA) Continue reading
Male brain heeds message of female sex hormone
By Dipali Pathak The estrogen receptor can be critical in preventing weight gain in female mammals and there also is strong evidence that the same receptor is important for body weight control in males. However, very little is known about where this receptor acts in the male brain. In a report published today in the Journal … Continue reading
Too much N-Ras promotes aggressive breast cancer
By Ruth SoRelle, M.P.H. Usually, scientists consider the gene N-Ras a cancer causer only when it is mutated, but researchers led by those at Baylor College of Medicine say that when N-Ras is found in a particularly aggressive form of the disease called basal-like breast cancer, it is too much of the “normal” (wild-type) protein … Continue reading