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Advance in tuberous sclerosis brain science

A new study in mice reveals that the timing of gene mutation during thalamus development significantly affects TSC-like behavioral symptoms and disease severity. The research highlights the importance of the thalamus in brain function and suggests a potential target for future treatments.

SourceBrown University·JournalNeuron·DateMay 9, 2013

Newborn baby screening for fragile X syndrome

A large-scale study on newborn screening for fragile X syndrome reveals the high prevalence of the premutation allele among carriers. The research identifies one in 209 females and one in 430 males with the premutation, highlighting the need for better understanding of its impact on families and systems.

SourceBMC (BioMed Central)·JournalGenome Medicine·DateDec 20, 2012

Study reports validation and clinical application of the first point-of-care genetic test in medicine, regarding use of antiplatelet therapy following coronary interventions

A new point-of-care genetic test identifies CYP2C19*2 allele, a common variant associated with increased risk of major adverse events. The test enables personalized dual antiplatelet treatment, reducing complications and improving outcomes for patients after coronary interventions.

SourceThe Lancet_DELETED·JournalThe Lancet·DateMar 28, 2012

Psychosocially hazardous neighborhoods associated with worse cognitive function in some older adults

A study found that older adults with the APOE ε4 allele who reside in psychosocially hazardous neighborhoods exhibit poorer cognitive performance in various domains, including processing speed and executive function. The presence of APOE ε4 alleles in African American populations also showed a significant impact on cognitive function.

SourceJAMA Network·JournalArchives of General Psychiatry·DateMar 7, 2011

Economic status, genetics together influence psychopathic traits

Researchers found that children with a specific serotonin transporter gene variant are more likely to exhibit psychopathic traits if they grow up poor. These traits include lack of empathy, arrogance, and deceitfulness. The study suggests that socioeconomic environment influences the expression of this genetic trait.

SourceUniversity of Illinois at Urbana-Champaign, News Bureau·JournalJournal of Abnormal Psychology·DateAug 5, 2010

Rwandan genocide survivors provide new insights into resilience and PTSD

A study of Rwandan genocide survivors found that genetic variations in the catechol-O-methyltransferase (COMT) gene affect PTSD risk. Survivors with certain genetic markers showed increased resilience to stress-related problems, while others were more vulnerable. The findings provide new insights into the complex relationship between t...

SourceElsevier·JournalBiological Psychiatry·DateFeb 25, 2010

Genes and smoking play role in rheumatoid arthritis

A new study found that all HLA-DRB1 shared epitope alleles strongly interact with smoking in conferring an increased risk of ACPA-positive RA. Smoking is identified as the main risk factor for developing rheumatoid arthritis, with a strong gene-environment interaction observed.

SourceWiley·JournalArthritis & Rheumatism·DateJun 1, 2009

Native Americans descended from a single ancestral group, DNA study confirms

A DNA study confirms that Native Americans and Greenlanders share a common ancestral population, with the '9-repeat allele' present in all Native American populations and absent in other Asian groups. This evidence supports the single ancestral population theory, ruling out multiple mutations and natural selection hypotheses.

SourceUniversity of California - Davis·JournalMolecular Biology and Evolution·DateApr 28, 2009

Researchers take first look at the genetic dynamics of inbreeding depression

Researchers found that a significant amount of inbreeding depression is due to key genes affecting other genes, particularly those involved in metabolism and stress. The study also identified distinct gene expression changes across different chromosome regions, suggesting a complex interplay between genetic mechanisms.

Genome communication

Paramutations, a process where one copy of a gene can alter the expression of another, have been found in plants and may be important for introducing changes under environmental stress. Researchers studying paramutations in maize identified genes and mechanisms involved in this epigenetic process.

The HLA-DRB1 gene and premature death in rheumatoid arthritis

Researchers identified the HLA-DRB1 gene as a predictor of premature death from cardiovascular disease in inflammatory arthritis patients. The study found that having two copies of the shared epitope allele increased the risk of death from all causes and cardiovascular disease, particularly among current smokers.

SourceWiley·JournalArthritis & Rheumatism·DateJan 31, 2008

Genetic variant is associated with higher rate of premature delivery in African-American women

A genetic variant in the SERPINH1 gene has been identified as a potential cause of premature delivery in African-American women. The variant reduces collagen production, making membranes more prone to rupture. This discovery may help physicians identify high-risk patients and prevent serious pregnancy complications.

SourceVirginia Commonwealth University·JournalProceedings of the National Academy of Sciences·DateAug 21, 2006