Theragenomic Medicine

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Onasemnogene abeparvovec-xioi (Zolgensma): Approval strategy with manipulated data?

Posted on August 13, 2019 by by

thassodotcom Posted in Allelic Variant, Gene Therapy, Genetic Background, In The Press, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

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 (SMN1) gene.

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Tags: American Food & Drug Administration (FDA), Gene Replacement Therapy, Gene Therapy, Onasemnogene Abeparvovec-xioi (Zolgensma), SMN1 Gene, Spinal Muscular Atrophy (SMA), Survival Motor Neuron 1 Gene (SMN1), Thasso Post, Theragenomic Medicine

Cystic fibrosis: CFTR-gene editing may cure this genetic disease

Posted on August 13, 2019 by by

thassodotcom Posted in Congenital, Gene Editing, Gene Therapy, Genetic Background, New Research, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

August 13, 2019 – A very significant research article by the title “Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing” has just appeared in the open access Journal Nature Communications. This work provide hope to patients with cystic fibrosis (CF) that in the nearer future CF may be curable,

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Tags: 3272–26A>G CTFR Gene Mutation, 3849+10kbC>T CFTR Gene Mutation, CFTR Gene, CFTRΔF508, CRISPR-Cas9, Cystic Fibrosis (CF), Gene Correction, Gene Editing, Gene Mutation, Gene Splicing, Gene Therapy Clinical Trials, Thasso Post, Theragenomic Medizine

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

The phenotype broker: Blockchain and patient phenotype

Posted on July 26, 2019 by by

thassodotcom Posted in New Research, On The Horizon, Personalized Medicine, Personomics, Targeted Therapy, Thasso Post, Theragenomic Medicine No Comments ↓

July 26, 2019 – “Blockchains for secure digitized medicine”. This is the title of a very interesting and important article in the Journal of Personalised Medine (JPM) as of May 28, 2019.

Blockchain as an emerging technology (particularly around the hype on Bitcoins) has been gaining in popularity,

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Tags: Allelic Variants, Apomediary Patient, Bitcoin, Blockchain, Digital Medicine, Electronic Medical Records (EMR), Free Health Data Market (FHDM), Genetic Variants, Genetics, Genotypes, Journal of Personalised Medine (JPM), Patient Phenotype, Personalized Medicine, Phenotype, Phenotype Broker, Thasso Post, Theragenomic Medicine, Third Trusted Party (TTP)

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

Tofacitinib (Xeljanz): Dangers of blood clots in the lungs and of death

Posted on June 8, 2019 by by

thassodotcom Posted in Adverse Drug Reaction [ADR], New Safety Information, Thasso Post, Theragenomic Medicine No Comments ↓

June 08, 2019 – For some time now, Tofacitinib (Xeljanz) receives intense attention in the media, with regulatory authorities, and patients and treating physicians alike because of serious concerns of increased risk of blood clots in the lungs and increased mortality in patients treated for ulcerative colitis at the 10-mg twice-daily dose of Tofacitinib (Xeljanz).

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