the glocalized network in theragenomic and personalized medicine and the genetics of individual patients safety of drugs
February 26, 2020 – Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability.The average IQ in males is under 55, while about two thirds of females are intellectually disabled. Physical features may include a long and narrow …
The first genetic test to aid in the diagnosis of Fragile X Syndrome Read more »
February 06, 2020 – Some of the first biological evidence of the incongruence transgender individuals experience, because their brain indicates they are one sex and their body another, may have been found in estrogen receptor pathways in the brain of …
Brain, Body Incongruence in Transgenders: Gene Variants Provide Some Insights Read more »
February 01, 2020 – Soccer headers might be more risky for APOE4 genotype carriers – this is the headline of a very recent Reuters Health article appearing in Medscape. Thus, soccer players with apolipoprotein E4 (APOE4) genotype may want to …
Soccer Headers Might Be More Risky for APOE4 Genotype Carriers Read more »
January 26, 2020 – An effort to map thousends of genomes across Asia has certainly the potential to find novel gene variants affecting disease and responses to drugs, and to reveal the complex origins of Asian populations. In a pilot …
January 26, 2020 – Common belief holds that differences in genes (i.e., allelic variants) in combination with differing frequencies of such allelic variants in populations of different ethnic background may explain the differences in the frequency and/or severity of overt …
Degree of African ancestry may influence gene expression levels Read more »
November 03, 2019 – Cystic fibrosis (CF) is a lethal, inherited genetic disease affecting more than 70,000 people worldwide. It is usually diagnosed in childhood and causes abnormal buildup of thick mucus in the lungs and digestive tract that leads …
In Caribbeans cystic fibrosis (CF) is driven by very rare CFTR mutations Read more »
October 27, 2019 – Genetic tests sold online and in shops are en vogue. More and more patients strive for it, and they (the patients) are getting back results. Results, the normal patient has no chance to understand. Not even …
After an over the counter genetic test: Would you make serious health decisions? Read more »
September 18, 2019 – This post is an edited version of parts of a paper that appeared in the Journal of Personalised Medicine (JPM) a week ago und which addresses one of the important topics in connection with the themes of …
Clinical evidence and implementation challenges for pharmacogenomic testing Read more »
September 06, 2019 – Wakefulness varies largely among human individuals. Barring individuals suffering from diseases such as narcolepsy that may heavily dictate an individual’s daily sleep and wakefulness pattern, there are individuals in the general population who needs a lot of …
Staying wakeful for the day: A second short sleep gene identified Read more »
August 13, 2019 – Onasemnogene abeparvovec-xioi (Zolgensma) is an adeno-associated virus vector-based gene therapy indicated for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 …
Onasemnogene abeparvovec-xioi (Zolgensma): Approval strategy with manipulated data? Read more »