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Category: genetics – Page 291

The researchers also showed that they could restore normal cognitive function in mice with these genetic mutations by artificially turning down hyperactivity in neurons of the AD thalamus. The approach they used, chemogenetics, is not yet approved for use in humans. However, it may be possible to target this circuit in other ways, the researchers say.

Summary: Certain genes that are mutated or missing in those with schizophrenia and autism cause similar dysfunction in neural networks within the thalamus.

Source: MIT

Many neurodevelopmental disorders share similar symptoms, such as learning disabilities or attention deficits. A new study from MIT has uncovered a common neural mechanism for a type of cognitive impairment seen in some people with autism and schizophrenia, even though the genetic variations that produce the impairments are different for each condition.

In a study of mice, the researchers found that certain genes that are mutated or missing in some people with those disorders cause similar dysfunctions in a neural circuit in the thalamus. If scientists could develop drugs that target this circuit, they could be used to treat people who have different disorders with common behavioral symptoms, the researchers say.

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Researchers have finally sequenced the complete human genome, filling the gaps in the Human Genome Project’s (HGP) historic first draft.

“Having been part of the original Human Genome Project in 2001, and especially focused on the difficult regions, it’s really satisfying for me to see this done even though it took 20 years,” researcher Evan Eichler, a genome scientist from the University of Washington in Seattle, told New Scientist.

The human genome: A genome is like a genetic instruction manual — it contains all the information an organism needs to grow and function. The human genome is written in DNA, and while your exact genome is unique to you, about 99.9% of it is identical across all people.

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#mendelslawofindependentassortment #Genetics #genes #molecularbiology #biology #biotech #recombinants #Genetic

This video explains the mendel’s law of independent assortment.

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Not sure how interesting this will be to people who know a lot on aging/longevity research.

A team of researchers at Brigham and Women’s Hospital and Harvard Medical School have found evidence of mouse and human germline cells resetting their biological age. In their paper published in the journal Science Advances, the group describes their study of the aging process in germline cells and what they found by doing so.

As animals grow older, all of the cells in their body replicate themselves repeatedly. As the process continues, errors in replicating and other external factors (such as exposure to pollutants) lead to gradual decay in cell quality, which is all part of the natural aging process. In this new effort, the researchers have found evidence showing that have a mechanism for resetting this process, allowing offspring to reset their aging clocks.

Germline cells pass on from parent to offspring during the reproductive process. For many years, scientists have wondered why these cells do not inherit the age of their parents. And for many years, they assumed that the cells were ageless, but recent work has shown that they do, in fact, age. So that raised the question of how offspring are able to begin their lives with fresh cells.

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Researchers from Brigham and Women’s Hospital have engineered yeast used in baking, wine-making and brewing to treat inflammatory bowel disease (IBD). The bacteria has been modified to secrete an anti-inflammatory molecule in response to signs of gut inflammation and has proven effective in preclinical tests.

Our gut microbiome is increasingly implicated in everything from cancer to neurodegenerative disease but it is still unclear exactly how we can translate these novel findings into clinical treatments. Fecal transplants are probably the most primitive microbiome-modifying treatment we have developed, while probiotics simply rely on upping specific levels of naturally occurring bacteria.

Perhaps the most futurist microbiome therapy under investigation is the idea of genetically engineered probiotics. Here researchers modify bacteria to either eat up molecules we don’t want in our body or secrete molecules we know have positive therapeutic effects.

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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.

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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.

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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.

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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.”

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