Familial Dysautonomia, a devastating disorder, has been linked to mutations in the IKBKAP gene. The gene's disruption leads to poor development and degeneration of sensory and autonomic nervous systems, resulting in symptoms such as abnormal sweating and insensitivity to pain.
A study by Dr. Dallas Swallow and colleagues found that the lactase gene was shaped by two evolutionary periods: one before and one after fresh milk became available. The researchers discovered that genetic diversity in non-African populations is lower than in Africans, suggesting a loss of genetic variation due to random fluctuations ...
The Antioquian population in Colombia exhibits a high degree of European genetic influence, predominantly from southern Spain. This is reflected in the Y chromosome data, which show that 94% of males are of European descent.
Researchers found that mutations in the ABCR gene cause a wide range of eye problems, including Stargardt disease and retinitis pigmentosa. The study suggests that a single therapy designed to replace ABCR activity could alleviate or prevent retinal degeneration.
Studies found human evolution led to a decrease in high-risk genetic variants associated with these diseases, instead increasing protective e2 and e3 variants. Analysis suggests advantageous mutations may have driven this shift.
Researchers have identified a bone morphogenetic protein receptor II gene mutation as the cause of familial primary pulmonary hypertension, a progressive condition characterized by constriction of blood vessels. The discovery could lead to earlier diagnosis and more effective treatments for both familial and sporadic forms of PPH.
A recent study published in The American Journal of Human Genetics has found a major genetic component to TB susceptibility, specifically in a group of aboriginal Canadians. Individuals with at least one high-risk copy of the NRAMP1 gene are ten times more likely to develop TB than those without it.
Researchers localized autism and developmental language disorder to the same position in the human genome, suggesting a genetic relationship between the disorders. The findings also explain why language difficulties are more prevalent in siblings and parents of individuals with autism.
Researchers discovered a new gene, neurofilament light, associated with Charcot-Marie-Tooth disease, which affects peripheral nerves and leads to progressive weakness. The defect is linked to demyelination, resulting in axonal loss and muscle denervation, also seen in other neurological disorders like Parkinson's and Alzheimer's diseases.
Researchers have discovered a new mechanism for genetic duplication, where duplicated regions are inserted into distant chromosomal sites. This new form of duplication implies that the human genome has more ways of rearranging itself than previously thought.
Researchers have identified three recurrent BRCA1 mutations in Polish breast-ovarian cancer families, suggesting founder mutations. These mutations, 5382insC, C61G, and 4153delA, account for 82% of the study's findings, enabling more efficient screening and diagnosis.
Scholz et al. study reveals significant genomic differences between Neandertal and human fossils, suggesting separate evolutionary histories. The researchers used a novel method to assess cross-hybridization of fossil DNA, allowing them to distinguish two well-defined Neandertal fossils from modern humans.