Allelic Variant

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HSD3B1 Genotype Predicts Prostate Cancer Outcomes

Posted on February 28, 2020 by by

Joseph Gut - thasso Posted in Allelic Variant, Genetic Background, Genetic Predisposition, New Research, Thasso Post, Theragenomic Medicine No Comments ↓

February 28, 2020 – A very recent report elucidates the possible prospective power of the knowledge about the genetic background of patients when concerned with certain clinical endpoints (disease states) and associated genes.

The researchers in the present study analyzed outcomes in white men enrolled in the E3805 CHAARTED clinical trial according to HSD3B1 genotype,

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Tags: Adrenal-Permissive Allele, Adrenal-Restrictive Allele, Allelic Variant, Castration-Resistant Prostate Cancer (CRPC), Dehydroepiandrosterone (DHEA), Dihydrotestosterone (DHT), HSD3B1 Gene, HSD3B1(1245A) Allele, HSD3B1(1245C) Allele, Prospective Outcome, Prostate Cancer

Genetic variants of the NUDT15 gene drive toxicity in leukemia therapy

Posted on February 27, 2020 by by

Joseph Gut - thasso Posted in Allelic Variant, Genetic Background, Genetic Predisposition, New Research, Thasso Post, Theragenomic Medicine No Comments ↓

February 27, 2020 – Thiopurines are important antimetabolite drugs, which make up a critical part of curative treatment for ALL. Genetic variations can directly influence drug toxicity and effectiveness of thiopurines. Researchers at St. Jude and elsewhere previously identified NUDT15 variants as a major genetic cause of toxicity during thiopurine therapy,

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Tags: Allelic Variant, Genetic Variation, Leukemia Therapy, NUDT15 Allelic Variant, NUDT15 Gene, Thasso Post, Theragenomic Medicine, Thiopurine, Toxicity Of Leukemia Therapy

The first genetic test to aid in the diagnosis of Fragile X Syndrome

Posted on February 26, 2020 by by

Joseph Gut - thasso Posted in Allelic Variant, Genetic Background, Regulatory Approval, Thasso Post, Theragenomic Medicine No Comments ↓

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 face,

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Tags: American Food & Drug Administration (FDA), AmplideX Fragile X Dx and Carrier Screen Kit, CGG Triplet Repeat, FMR1 gene, Fragile X syndrome (FXS), Genetic Test, Inborn Error, Inherited Developmental Delay, Intellectual Disability (ID), Thasso Post, Theragenomic Medicine

Brain, Body Incongruence in Transgenders: Gene Variants Provide Some Insights

Posted on February 6, 2020 by by

Joseph Gut - thasso Posted in Allelic Variant, Genetic Background, New Research, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

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 30 transgender individuals.

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Tags: AKR1C3 Gene, Allelic Variant, Androgen, BOK Gene, CDH8 Gene, CDK12 Gene, CTNNA2 Gene, DNER Gene, DSCAML1 Gene, EFHD2 Gene, EGF Gene, Estrogen, Gender Dysphoria, Genetic Variant, GRIN1 Gene, Incongruence, KCNK3 Gene, MAP4K3 Gene, Masculinization, PIK3CA Gene, PPARGC1B Gene, RIMS3 Gene, RIMS4 Gene, SPHK1 Gene, SYNPO Gene, Thasso Post, Theragenomic Medizine, TNN Gene, Transgender

Soccer Headers Might Be More Risky for APOE4 Genotype Carriers

Posted on February 1, 2020 by by

Joseph Gut - thasso Posted in Allelic Variant, Genetic Background, Genetic Predisposition, Genetic Susceptibility, In The Press, New Research, Thasso Post, Theragenomic Medicine No Comments ↓

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 limit how many headers they do,

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Tags: Allelic Variant, APOE4 Gene, APOE4 Genotype, Chronic Traumatic Encephalopathy (CTE), Genetic Predisposition, Genetic Risk Factor, Neurodegeneration, Risk Gene, Thasso Post, Theragenomic Medicine

The diversity of Asian genomes

Posted on January 26, 2020 by by

Joseph Gut - thasso Posted in Allelic Variant, Ethnicity, Genetic Background, Genetic Predisposition, Genetic Susceptibility, New Research, Thasso Post, Theragenomic Medicine, Theragenomics 1 Comment ↓

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 study,

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Tags: Allelic Variant, Asian Origin, Asian Population, Ethnicity, Gene Variant, Genetic Diversity, Thasso Post, Theragenomic Medicine

Degree of African ancestry may influence gene expression levels

Posted on January 26, 2020 by by

Joseph Gut - thasso Posted in Allelic Variant, Ethnicity, Gene Expression, Genetic Susceptibility, New Research, Thasso Post, Theragenomic Medicine No Comments ↓

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 diseases in different ethnic groups and/or populations.

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Tags: African American Descent, African Ancestry, Allelic Variant, APOL1, CYP2C19, mRNA, Thasso Post, Theragenomic Medicine, Transcriptional Bursting, VGEF

In Caribbeans cystic fibrosis (CF) is driven by very rare CFTR mutations

Posted on November 3, 2019 by by

Joseph Gut - thasso Posted in Allelic Variant, Ethnicity, Genetic Predisposition, Genetic Susceptibility, Personalized Medicine, Thasso Post, Theragenomic Medicine No Comments ↓

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 to trouble breathing,

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Tags: Caribbean Descent, Caucasian Descent, CFTR Allelic Variant, CFTR Gene, CFTR Gene Mutations, Cystic Fibrosis (CF), Ethnic Health Inequality, p.Phe508del, Thasso Post, Theragenomic Medizine

After an over the counter genetic test: Would you make serious health decisions?

Posted on October 27, 2019 by by

Joseph Gut - thasso Posted in Allelic Variant, Genetic Background, Genetic Predisposition, Genetic Susceptibility, Thasso Post, Theragenomic Medicine No Comments ↓

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 most of treating physicians are capable to interpret in favour of their patients.

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Tags: Clinical Phenotype, Compound Heterozytoges, Confounding Factors, Direct To Consumer Genetic Testing (DTCGT), Direct To Consumer Theragenomic Testing (DTCTT), False Negative Results, False Positive Results, Genotype, Molecular Phenotype, Pharmacogenomics, Thasso Post, Theragenomic Medicine, Theragenomics, Transcriptional Bursting

Clinical evidence and implementation challenges for pharmacogenomic testing

Posted on September 18, 2019 by by

Joseph Gut - thasso Posted in Allelic Variant, Genetic Background, Genetic Predisposition, Genetic Susceptibility, Personalized Medicine, Personomics, Pharmacogenetics, Thasso Post, Theragenomic Medicine No Comments ↓

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 personalised medicine,

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