Therapies that promote progressive multifocal leukoencephalopathy (PML)

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?

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

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

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

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)

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

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?

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

In recent years,

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Where portrait photos meet genetics and AI

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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  • Researchers find genetic links to child obesity across diverse ethnic groups August 22, 2019
    An international team of researchers who analyzed data across multiple ethnicities has produced the largest genetic study to date associated with common childhood obesity. The Early Growth Genetics (EGG) Consortium discovered a robust new signal, fine-mapped previously reported genetic variants, and added to evidence that genetic influences on obesity operate across the lifespan.
  • Researchers develop model to personalize radiation treatment August 22, 2019
    A personalized approach to cancer treatment has become more common over the last several decades, with numerous targeted drugs approved to treat particular tumor types with specific mutations or patterns. However, this same personalized strategy has not translated to radiation therapy, and a one-size-fits-all approach for most patients is still common practice. Moffitt Cancer Center […]
  • How our genes and environment influence BMI and height August 22, 2019
    Environmental conditions influence our body mass index (BMI) by increasing or decreasing the effect of inherited genetic variations, University of Queensland researchers have discovered.
  • Genetic testing and family tree research are revealing painful family secrets, research says August 22, 2019
    Genealogical research and genetic testing are revealing skeletons in family closets and causing rifts among members, a new study shows.
  • Researchers use single-cell sequencing to get a better look at human embryo implantation August 22, 2019
    A team of researchers affiliated with multiple institutions in China has used single-cell sequencing to learn more about the human embryo during implantation in the uterus. In their paper published in the journal Nature, the group describes sequencing thousands of human embryo cells from before, during and after implantation, and what they learned from it.
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