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I was at HudsonAlpha’s spinoff clinic for rare diseases, the Smith Family Clinic for Genomic Medicine. Most people don’t know this, but the second largest biomedical research campus in the USA and the fourth in the entire world is in Alabama. Long-read genome sequencing is essential for aging research because it is able to detect methylation and acetylation very conveniently, as well as major structural changes to the genome that are associated with both rare disease AND aging. This is an explanation of how long-read sequencing is able to fill in sequence gaps caused by Illumina short-read technology.

In 2020, Chromosome X and 8 were finished end-to-end with long-read sequencing, for the first time. And now in 2021, a complete gapless human genome is on the horizon. The Human Genome Project may finally, truly become complete.


February 3, 2021 (Huntsville, Ala.) – Researchers at the HudsonAlpha Institute for Biotechnology used a new, cutting-edge genomic sequencing technology to help physicians make diagnoses for two pediatric patients who had been on long diagnostic journeys.

Limitations of traditional sequencing in neurodevelopmental disease diagnosis

Neurodevelopmental diseases, many of which are genetic in nature, affect one to three percent of children and cause a range of physical and intellectual disabilities. Identifying the genetic variants, or changes in DNA, that lead to these diseases can provide a precise diagnosis, guide treatment approaches, and give families the answer to their years-long medical mystery.

Big fan of long-read sequencing. It helped diagnose my rare disease when conventional sequencing failed.

What’s the Difference between Short-Read Sequencing and Long-Read Sequencing? Like their names suggest, short-read sequencing looks at DNA in short snippets (100−350 base pairs) while long-read sequencing measures long fragments of DNA (tens of thousands of base pairs). Why does that matter? Well, when trying to characterize a human genome that has two copies (one maternal and one paternal), each 3.2 billion base pairs in length — having longer snippets of DNA means you: Need fewer snippets to make up the length of the whole genome and have no gaps where the sequence is unknown Can more easily map how one region of the genome is connected to another region Have the ability to phase or determine which copy of a gene, maternal or paternal, a mutation occurs in.


PacBio long-read sequencing provides the most comprehensive view of genomes, transcriptomes, and epigenomes.

An Australian mammal thought to have been wiped out over 150 years ago can now be crossed off our list of extinct animals, following a new study.

Researchers compared DNA samples fromeight extinct Australian rodents, as well as 42 of their living relatives, to look at the decline of native species since the arrival of Europeans in Australia.

The study showed the extinctGould’s was indistinguishable from the Shark Bay mouse, still found on several small islands off the coast of Western Australia.

Summary: Study finds amyloid-beta plaques may not be the cause of memory loss associated with Alzheimer’s disease, but instead a consequence of the disease. Regardless of the levels of amyloid plaques, researchers found individuals with high levels of amyloid peptide were cognitively normal. Higher levels of soluble amyloid beta peptide were also linked to people having a larger hippocampus.

Source: University of Cincinnati.

Experts estimate more than 6 million Americans are living with Alzheimer’s dementia. But a recent study, led by the University of Cincinnati, sheds new light on the disease and a highly debated new drug therapy.

In this video, Drs Irina and Mike Conboy talk about the procedure of Neutral Blood Exchange. How it is done and how much blood of the blood is exchanged.

Our guests today are Drs. Irina and Michael Conboy of the Department of Bioengineering at the University of California Berkeley. their discovery of the rejuvenating effects of young blood through parabiosis in a seminal paper published in Nature in 2005 paved the way for a thriving field of rejuvenation biology. The Conboy lab currently focuses on broad rejuvenation of tissue maintenance and repair, stem cell niche engineering, elucidating the mechanisms underlying muscle stem cell aging, directed organogenesis, and making CRISPR a therapeutic reality.

Papers mentioned in this video.
Plasma dilution improves cognition and attenuates neuroinflammation in old mice.
https://pubmed.ncbi.nlm.nih.gov/33191466/
Rejuvenation of three germ layers tissues by exchanging old blood plasma with saline-albumin.
https://pubmed.ncbi.nlm.nih.gov/32474458/
Rejuvenation of aged progenitor cells by exposure to a young systemic environment.
https://pubmed.ncbi.nlm.nih.gov/15716955/

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#BoodPlasmaDilution #Conboy #Rejuvenation #IrinaConboy #UCBerkeley #Tissue #NBE #CRISPR #youngbloodplasma #stemcell #organogenesis #ConboyLab #aging #longevity #anti-aging #Healthspan #modernhealthspan

Scientists develop the first CRISPR-Cas9-based gene drive in plants which may breed crops better able to withstand drought and disease.


Scientists have discovered a unique form of cell messaging occurring in the human brain that’s not been seen before. Excitingly, the discovery hints that our brains might be even more powerful units of computation than we realized.

Early last year, researchers from institutes in Germany and Greece reported a mechanism in the brain’s outer cortical cells that produces a novel ‘graded’ signal all on its own, one that could provide individual neurons with another way to carry out their logical functions.

By measuring the electrical activity in sections of tissue removed during surgery on epileptic patients and analysing their structure using fluorescent microscopy, the neurologists found individual cells in the cortex used not just the usual sodium ions to ‘fire’, but calcium as well.

Sanofi will apply Google’s artificial intelligence (AI) and cloud computing capabilities toward developing new drugs, through a collaboration whose value was not disclosed.

The companies said they have agreed to create a virtual Innovation Lab to “radically” transform how future medicines and health services are developed and delivered.

Sanofi has articulated three goals for the collaboration with Google: better understand patients and diseases, increase Sanofi’s operational efficiency, and improve the experience of Sanofi patients and customers.

For the first time, CRISPR-Cas9-based gene drive technology has been developed in plants. Enabling the inheritance of both copies of a target gene from a single parent could greatly reduce the generations needed for plant breeding. Establishing this genome editing technology in plants may allow for breeding resilient crops that are better able to withstand drought and disease.

#GenomeEditing #AgBio #CRISPR #Cas9


Gene drives have been established in insects, including fruit flies and mosquitoes, and mammals such as mice. Now, for the first time, the CRISPR-Cas9-based technology that disrupts Mendelian inheritance and allows for selective acquisition of target genes has been developed in plants. Establishing this genome editing technology in plants may allow for breeding resilient crops that are better able to withstand drought and disease.

The research is published in Nature Communications in the paper, “Selective inheritance of target genes from only one parent of sexually reproduced F1 progeny in Arabidopsis.”

“This work defies the genetic constraints of sexual reproduction that an offspring inherits 50% of their genetic materials from each parent,” said Yunde Zhao, PhD, professor of cell and developmental biology at the University of California, San Diego (UCSD). “This work enables inheritance of both copies of the desired genes from only a single parent. The findings can greatly reduce the generations needed for plant breeding.”

Scientists have revealed a fascinating new design for an incredibly tiny, inflatable spinal cord implant, suited for treating severe chronic back pain that doesn’t respond to medication.

The inflatable electronic device is part of a spinal cord stimulator (SCS) setup, a type of well-established therapy that delivers mild electric currents to a person’s spinal cord via implanted electrodes. That current is sent by a small, implanted pulse generator device, and the whole thing reduces pain because the electrical pulses help to mask pain signals traveling to the brain via the spinal cord.

If that all sounds rather invasive, that’s because it is. But this new device, designed by a team led by scientists from the University of Cambridge in the UK, could help to change that — with less invasive surgery requirements.