Genetic Predisposition

Blog Archives

Clinical evidence and implementation challenges for pharmacogenomic testing

Posted on September 18, 2019 by by

thassodotcom 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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Tags: All of Us Project, Canadian Association of Genetic Counsellors, Clinical Pharmacogenetics Implementation Consortium (CPIC), Direct To Consumer Genetic Testing (DTCGT), Dutch Pharmacogenetics Working Group (DPWG), Genetic Testing, Next Generation Sequencing (NGS), Pharmacogenomics, PharmGKB, PREDICT Program, Right Dose, Right Drug, Right Time Protocol (RIGHT Protocol), Thasso Post, Theragenomic Medicine, Ubiquitous Pharmacogenomics Project (UPGX), US National Society of Genetic Counselors

Staying wakeful for the day: A second short sleep gene identified

Posted on September 6, 2019 by by

thassodotcom Posted in Allelic Variant, Genetic Predisposition, New Research, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

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 sleep and there are those who seemingly never sleep and still feel fit and good at performing their daily tasks.

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Tags: ADRB1 Gene, DEC2 Gene, Genetic Mutation, Nacrolepsie, Short Sleep, Short Sleep Gene, Thasso Post, Theragenomic Medicine, Transcriptional Repressor, Wakefulness, β1-Adrenergic Receptor

Variables of prospective response rates of PD-1/PD-L1 based therapies across cancers

Posted on August 28, 2019 by by

thassodotcom Posted in Genetic Background, Genetic Predisposition, New Research, On The Horizon, Personalized Medicine, Thasso Post, Theragenomic Medicine No Comments ↓

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Tags: Colitis, Fatal Toxic Event, Hepatitis, Immune-Related Adverse Events (irAEs), Ipilimumab [Yervoy], Myocarditis, Neurotoxic Effects, Overall Response Rate (ORR), Pembrolizumab [Keytruda], Pneumonitis, Programmed Cell Death 1 Protein (PD-1), Programmed Cell Death 1 Protein Ligand 1 (PD-L1), Thasso Post, Theragenomic Medicine, These, Tumor Agnostic Therapy

Black people with natural blonde hair – Everything is possible in genetics

Posted on August 7, 2019 by by

thassodotcom Posted in Allelic Variant, Ethnicity, Genetic Predisposition, New Research, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

August 07, 2019 – Blonde hair is a rare human phenotype found almost exclusively in Europe and Oceania. Human pigmentation varies considerably within and among populations and is a function of both variation in exposure to ultraviolet radiation (UVR) and the type and quantity of melanin produced in melanocytes and keratinocytes.

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Tags: African Ancestry, Allelic Variant, Autosomal Recessive, Blonde Hair, Genetic Predisposition, Genetic Variant, Genome Wide Association Study (GWA), Genotyp [Homozygot], Inheritance, Melanesian People, Melanin, Oceania, Solomon Islands, Thasso Post, Theragenomics Medicine, Tyrosinase-Related Protein 1, TYRP1 Gene, Years Before Present (YBP)

ZRANB3 in African Populations: New Type 2 Diabetes risk locus identified

Posted on August 3, 2019 by by

thassodotcom Posted in Ethnicity, Genetic Background, Genetic Predisposition, Genetic Susceptibility, Personalized Medicine, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

August 03, 2019 – Africa is considered the original cradle of all humanity, to which all humans can trace their genetic origin. This may be very interesting in the context of diseases that are due to genetic predispositions both in todays African populations and in all the populations descendant of African origin worldwide.

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Tags: 1000 Genomes Project (1KGP), African Population, Genome Aggregation Database (GnomAD), Risk Locus, T2D, Thasso Post, Theragenomic Medicine, Type 2 Diabetes, ZRANB3 Gene

Risk loci for post-traumatic stress disorder (PTSD)

Posted on August 1, 2019 by by

thassodotcom Posted in Allelic Variant, Ethnicity, Genetic Background, Genetic Predisposition, New Research, Thasso Post, Theragenomic Medicine No Comments ↓

August 01, 2019 – Post-Traumatic Stress Disorder (PTSD) is a mental disorder that can develop after a person is exposed to a traumatic event, such as sexual assault, warfare, traffic collisions, or other threats on a person’s life. Symptoms may include disturbing thoughts,

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Tags: African American, Ethnicity, European American, Phenotype, Post-Traumatic Stress Disorder (PTSD), Risk Locus, Thasso Post, Theragenomics Medicine, Transcriptomic Profile

Genetic aspects of globesity: Glocalized or not?

Posted on June 25, 2019 by by

thassodotcom Posted in Allelic Variant, Gene Expression, Genetic Background, Genetic Predisposition, Genetic Susceptibility, New Research, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

June 25, 2019 – The global obesity epidemic is so far-reaching it now has an overarching name: globesity (obviously derived from global obesity). Very interesting questions arise in this context such as are there glocalized (global and or local) factors involved in this epidemic.

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Tags: Allelic Variant, Congenital Leptin Deficiency, Fat Controller, Globesity, Glocalization, LEP Gene, Leptin, Metreleptin [Myalept], Recessive Genetic Disorder, Thasso Post, Theragenomic Medicine

Status of genetics behind male infertility

Posted on June 20, 2019 by by

thassodotcom Posted in Genetic Background, Genetic Predisposition, Genetic Susceptibility, New Research, Personalized Medicine, Thasso Post, Theragenomic Medicine No Comments ↓

June 20, 2019 – Male infertility is a serious treat in very many relations. While a priori, male infertility does not affect the physical health of the afflicted, it may very much affect the psychological health of the individual, and that of couples too.

In recent years,

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Tags: Acrosome Biogenesis, CFAP43 Gene, CFAP44 Gene, DNAH1 Gene, DPY19L2 Gene, Endocrine Disruptor, Male Infertility, Multiple Morphological Anomalies of the Flagellum (MMAF Syndrome), RBMXL2 Gene, SPINK2 Gene, Thasso Post, Theragenomics Medicine

Where portrait photos meet genetics and AI

Posted on June 13, 2019 by by

thassodotcom Posted in Clinical Development, Digital Health, Genetic Background, Genetic Predisposition, In The Press, Neue Forschung, On The Horizon, Thasso Post, Theragenomic Medicine No Comments ↓

June 13, 2019 – This is simply fascinating stuff. Researchers are testing neural networks that automatically combine portrait photos with genetic and phenotypic patient data in order to obtain definitive diagnosis of hereditary rare diseases, all with the help of artificial intelligence (AI).

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Tags: Artificial Intelligence (AI), DeepGestalt, DeepPhenotyping, Face2Gene, Facial Abnormalities, Hereditary Rare Disease, Intellectual Disability (ID), Kabuki Syndrome, Mabry Syndrome, Mucopolysaccharidosis (MPS), Neural Network, Rare Disease, Thasso Post, Theragenomics Medicine

Gene therapy: Zolgensma to treat spinal muscular atrophy

Posted on May 29, 2019 by by

thassodotcom Posted in Children, Genetic Predisposition, New Drug Approval, Personalized Medicine, Targeted Therapy, Thasso Post, Theragenomic Medicine No Comments ↓

May 29, 2019 – Spinal muscular atrophy (SMA) is a group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting. The severity of symptoms and age of onset varies by the type. Some types are apparent at or before birth while others are not apparent until adulthood.

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