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Therapies that promote progressive multifocal leukoencephalopathy (PML)

Posted on August 23, 2019 by by

August 23, 2019 – Progressive multifocal leukoencephalopathy (PML) is a rare and often fatal viral disease characterized by progressive damage or inflammation of the white matter of the brain at multiple locations (i.e., multifocal). It is caused by the JC virus,

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

Posted on August 13, 2019 by by

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

Posted on August 13, 2019 by by

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

Posted on August 7, 2019 by by

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

Posted on August 3, 2019 by by

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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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Risk loci for post-traumatic stress disorder (PTSD)

Posted on August 1, 2019 by by

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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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The phenotype broker: Blockchain and patient phenotype

Posted on July 26, 2019 by by

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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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Genetic aspects of globesity: Glocalized or not?

Posted on June 25, 2019 by by

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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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Status of genetics behind male infertility

Posted on June 20, 2019 by by

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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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Where portrait photos meet genetics and AI

Posted on June 13, 2019 by by

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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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