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Archive for the ‘genetics’ category: Page 91

Aug 29, 2023

Base Editing Beats Other Genome Editing Strategies for Treating Sickle Cell Disease

Posted by in categories: bioengineering, biotech/medical, genetics

The findings suggest that adenosine base editing raised the expression of fetal hemoglobin to higher, more stable, and more uniform levels than other genome editing technologies that use CRISPR/Cas9 nuclease in human hematopoietic stem cells.


“Ultimately, we showed that not all genetic approaches are equal,” said Jonathan Yen, PhD, genome engineering group director at St. Jude Children’s Research Hospital. “Base editors may be able to create more potent and precise edits than other technologies. But we must do more safety testing and optimization.”

SCD and beta-thalassemia are blood disorders caused by mutations in the gene encoding hemoglobin affecting millions of people. Restoring gene expression of an alternative hemoglobin subunit active in a developing fetus has previously shown therapeutic benefit in SCD and beta-thalassemia patients. The researchers wanted to find and optimize genomic technology to edit the fetal hemoglobin gene.

Continue reading “Base Editing Beats Other Genome Editing Strategies for Treating Sickle Cell Disease” »

Aug 28, 2023

Naked mole-rat’s ‘longevity’ gene extends lifespan and health of mice

Posted by in categories: biotech/medical, genetics, life extension

Scientists from the University of Rochester have had the naked mole-rat (Heterocephalus glaber) in their crosshairs for some time, previously identifying how their unique cellular aging mechanisms lay the foundation for their long lifespans – up to 41 years, during which the females also remain fertile – and resistance to age-related diseases.

The modification directly led to the improved overall health of the aging mice and an approximate 4.4% increase in median lifespan.


They weigh about an ounce, spend their lives underground in sub-Saharan Africa and are unlikely to be making the shortlist for any cute animal calendars, but the naked mole-rat continues to show scientists it has incredible age-resistant biology beneath its pale, wrinkly skin.

Continue reading “Naked mole-rat’s ‘longevity’ gene extends lifespan and health of mice” »

Aug 28, 2023

Human Cells Have “Memory” Wiped In Major Regenerative Medicine Breakthrough

Posted by in categories: biotech/medical, genetics, life extension

Scientists have found a way to reprogram human cells so that they mimic the highly plastic embryonic stem cells that have so much promise for use in regenerative medicine. By essentially wiping the cell’s “memory”, the team have created so-called induced pluripotent stem (iPS) cells, which could be used to regenerate or repair diseased tissue and organs.

IPS cells are a type of pluripotent cell that can be obtained by reprogramming mature human adult cells (“somatic” cells) into an embryonic stem cell-like state. This means that they have the capacity to differentiate into any cell of the body. They were first demonstrated in 2006, and have myriad potential biomedical and therapeutic uses, including disease modeling, drug screening, and cell-based therapies.

Despite this promise, researchers have continually hit a stumbling block that has prevented iPS cells from realizing their potential. “A persistent problem with the conventional reprograming process is that iPS cells can retain an epigenetic memory of their original somatic state, as well as other epigenetic abnormalities,” Professor Ryan Lister, lead author of a paper presenting the latest breakthrough, said in a statement.

Aug 27, 2023

The Identity Of E5 Revealed | Reduced Epigenetic Age By More Than 50%

Posted by in categories: biotech/medical, genetics, life extension, media & arts

So past the 7 minute mark we see a competing interest may have stumbled upon the same thing so Katcher and gang are starting a company to commercialize E5.


Here we review a preprint from Dr Katcher and Dr Horvath giving more detail on the experiments which showed a 54% epigenetic rejuvenation in rats and reveals the source of E5 and the processing involved.

Continue reading “The Identity Of E5 Revealed | Reduced Epigenetic Age By More Than 50%” »

Aug 27, 2023

Aging is Now Optional w/ David Sinclair | EP #60

Posted by in categories: biotech/medical, chemistry, genetics, life extension, neuroscience

Get my new Longevity Practices book for free: https://www.diamandis.com/longevity.

In this episode, filmed during Abundance360, Peter and David discuss David’s groundbreaking research on reversing aging through epigenetic changes, emphasizing that aging is not just damage to the body but a loss of information. They talk about age reversal as a possibility, rejuvenating brains, and regaining lost memories.

Continue reading “Aging is Now Optional w/ David Sinclair | EP #60” »

Aug 26, 2023

A new ape from Türkiye and the radiation of late Miocene hominines

Posted by in category: genetics

The origin of the hominines is among the most hotly debated topics in paleoanthropology. The traditional view, ever since Darwin, holds that hominines and hominins originate in Africa, where the earliest hominins are found and where all extant non-human hominines live. More recently a European origin has been proposed, based on the phylogenetic analysis of late Miocene apes from Europe and Central Anatolia1,2,3 The fossils described here attest to a lengthy history of hominines in Europe, with multiple taxa in the eastern Mediterranean known for at least 2.3 Ma4,5,6,7 Our phylogenetic analysis, based on the new specimens described here and a large sample of other fossil and extant hominoids (Supplementary Note 1, Tables 1, 2), supports previous research confirming the hominine status of the eastern Mediterranean apes2,3,8,9,10,11,12,13,14,15,16,17,18,19,20 Our most parsimonious phylogenetic results suggest that hominines in the eastern Mediterranean evolved from dryopithecins in central and western Europe, though there are alternative interpretations21,22,23,24. Either way, the oldest known hominines are European. They may have dispersed into Europe from ancestors in Africa, only to become extinct22 However, the more likely and more parsimonious interpretation is that hominines evolved over a lengthy period in Europe and dispersed into Africa before 7 Ma.

For some time, the only known late Miocene ape from Anatolia was Ankarapithecus, which is alternatively described as a stem hominid or a pongine25,26,27, but not a hominine. It is easily distinguished from Our anopithecus and Graecopithecus from Greece and Bulgaria25,26,27 In 2007, a new species of Our anopithecus was described from Çorakyerler in central Anatolia28. Since then, thousands of vertebrate fossils have been recovered at Çorakyerler, including a well-preserved ape partial cranium29 (Fig. 1) The O. turkae holotype, a fragmented palate, was originally distinguished from O. macedoniensis in its shorter premaxilla, narrower palate, morphologically similar (homomorphic) upper premolars (as opposed to P3 being more triangular than P4), smaller male canines and possibly larger size28. However, recovery of the new cranium and our reanalysis of the published material requires a reassessment of this conclusion and justifies the naming of a new genus of Miocene hominine.

Aug 26, 2023

‘New’ ALS gene destabilizes neuron’s structure and chokes off its nucleus

Posted by in categories: biotech/medical, genetics, neuroscience

The viral ALS Ice Bucket Challenge a few years ago raised major funding that resulted in the discovery of new genes connected to the disease. One of those genes is NEK1, in which mutations have been linked to as much as 2% of all ALS cases, making it one of the top-known causes of the disease.

But it wasn’t known how the mutated gene disrupts the function of the motor neuron and causes it to degenerate and die.

Northwestern Medicine scientists have discovered for the first time how this mutated gene leads to ALS (amyotrophic lateral sclerosis).

Aug 25, 2023

Epilepsy Patients may have elevated Risk of Cardiac Arrhythmias

Posted by in categories: biotech/medical, genetics

A recent study found increased cardiac arrhythmia risk to stay long term in individuals with epilepsy, specially in people who use carbamazepine and valproic acid. The findings of the study were published in European Heart Journal.

Using UK Biobank data, the research also explores the potential roles of genetics and antiseizure medications (ASMs) in this complex relationship. Encompassing 329,432 participants, the study included 2,699 with epilepsy, was initiated between 2006 and 2010. Using advanced statistical techniques like Cox proportional hazards models and competing risk models, the researchers aimed to determine the association between epilepsy history and the incidence of cardiac arrhythmias over an extended period.

Individuals with epilepsy displayed a staggering 36% increased risk of experiencing any form of cardiac arrhythmia compared to those without the condition. This risk extended to specific arrhythmia subtypes, including atrial fibrillation, where a 26% increased risk was identified. More alarmingly, the risk of other cardiac arrhythmias was found to be 56% higher in epilepsy patients.

Aug 25, 2023

Cancer’s origin story features predictable plot line, Stanford Medicine researchers find

Posted by in categories: biotech/medical, genetics

Human cells evolving in the laboratory undergo a series of predictable, sequential genetic changes that lead to pre-cancer. Blocking these changes may allow intervention before cancer occurs.

Aug 25, 2023

Screening during IVF for inherited diseases greatly reduces costs of care

Posted by in categories: biotech/medical, genetics, health

For prospective parents who are carriers of many inherited diseases, using in vitro fertilization along with genetic testing would significantly lower health care expenditures, according to researchers at Stanford Medicine.

Preimplantation genetic diagnostic testing during IVF, or PGD-IVF, is being used to screen for single-gene defect conditions such as cystic fibrosis, sickle cell disease and Tay-Sachs disease, along with nearly 400 others.

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