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Archive for the ‘genetics’ category: Page 10

Feb 2, 2024

Gene Editing Technology Approved in US for Sickle Cell Disease

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

A gene editing tool using a system known as CRISPR-Cas9 has recently been approved by the U.S. Food and Drug Administration (FDA) for sickle cell disease. The drug is known as Casgevy and the media has hailed this treatment as a ‘cure’ for sickle cell anemia patients. While it is still unclear if the drug completely cures these patients, clinical trials show exciting efficacy.

Sickle cell disease is a genetic blood disorder affecting thousands of US citizens. Many of these patients are African American and Hispanic. In sickle cell disease, hemoglobin, a protein in red blood cells that helps carry oxygen throughout the body, is mutated. As a result, blood cells change shape in the form of a sickle, giving the disease its name. Unfortunately, the mutated cells cause disruption of blood flow and prevent other blood cells from delivering oxygen to the body. This disease is extremely rare and can lower the quality of life in patients. Previously, there were limited treatments options including transfusions and medications for pain management. However, Casgevy provides a new option to help treat the patient and relieve pain for over a year after a single treatment.

One-time treatment using Casgevy improved life quality for sickle cell patients. A single-arm trial was conducted at multiple health centers in adults and adolescents. These patients were screened for two vaso-occlusive crises (VOCs) which are described as severely painful events due to a lack of oxygen delivery from sickle cell blood cells blocking blood flow. The primary measure of success in the trial was the number of VOCs after treatment. In total, 44 patients received Casgevy and 33 were able to follow up and be evaluated. Of the 33 patients that made it through the trial, 29 of them did not experience any VOCs for 12 months. This is a 93.5% success rate based on the number of patients that were analyzed. All 44 patients were able to successfully undergo treatment without any graft rejection. In addition, researchers concluded that this treatment was not only effective, but safe with few side effects.

Feb 1, 2024

Why human brain cells grow so slowly

Posted by in categories: genetics, neuroscience

Some human neurons take years to reach maturity; an epigenetic ‘brake’ could be responsible.

Jan 31, 2024

Cancer epigenetic research accelerated by new sequencing technologies

Posted by in categories: biotech/medical, genetics

Epigenomic analyses suggest promising new approaches for monitoring and treating cancer. What are the analyses uncovering, and how close are they to improving patient outcomes?

Jan 28, 2024

CRISPR off-switches: A path towards safer genome engineering?

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

Using CRISPR, an immune system bacteria use to protect themselves from viruses, scientists have harnessed the power to edit genetic information within cells. In fact, the first CRISPR-based therapeutic was recently approved by the FDA to treat sickle cell disease in December 2023. That therapy is based on a highly studied system known as the CRISPR-Cas9 genetic scissor.

However, a newer and unique platform with the potential to make large-sized DNA removals, called Type I CRISPR or CRISPR-Cas3, waits in the wings for potential therapeutic use.

A new study from Yan Zhang, Ph.D., Assistant Professor in the Department of Biological Chemistry at the University of Michigan Medical School, and her collaborators at Cornell University develops off-switches useful for improving the safety of the Type I-C/Cas3 gene editor. The study, “Exploiting Activation and Inactivation Mechanisms in Type I-C CRISPR-Cas3 for 3 Genome Editing Applications,” is published in the journal Molecular Cell.

Jan 28, 2024

Blood Test #1 in 2024: What’s My Biological Age?

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

Join us on Patreon! https://www.patreon.com/MichaelLustgartenPhDDiscount Links: Epigenetic, Telomere Testing: https://trudiagnostic.com/?irclickid=U-s3Ii2r7x

Jan 27, 2024

Healthy eating and activity reverse aging marker in kids with obesity, study finds

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

A genetic marker linked to premature aging was reversed in children with obesity during a six-month diet and exercise program, according to a recent study led by the Stanford School of Medicine.

Children’s telomeres—protective molecular “caps” on the chromosomes—were longer during the weight management program, then were shorter again in the year after the program ended, the study found. The research was published last month in Pediatric Obesity.

Like the solid segment at the end of a shoelace, telomeres protect the ends of chromosomes from fraying. In all people, telomeres gradually shorten with aging. Various conditions, including obesity, cause premature shortening of the telomeres.

Jan 27, 2024

Optimizing Gene Editing with PARP1 CRISPR Plasmids

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

Gene editing is revolutionizing the understanding of health and disease, providing researchers with vast opportunities to advance the development of novel treatment approaches. Traditionally, researchers used various methods to introduce double strand breaks (DSBs) into the genome, including transactivator-like effectors, meganucleases, and zinc finger nucleases. While useful, these techniques are limited in that they are time and labor intensive, less efficient, and can have unintended effects. In contrast, the clustered regularly interspaced short palindromic repeat (CRISPR)-associated protein-9 (Cas9) system (CRISPR/Cas9) is among the most sensitive and efficient methods for creating DNA DSBs, making it the leading gene editing technology.

CRISPR/Cas9 is a naturally occurring immune protective process that bacteria use to destroy foreign genetic material.1 Researchers repurposed the CRISPR/Cas9 system for genetic engineering applications in mammalian cells, exploiting the molecular processes that introduce DSBs in specific sections of DNA, which are then repaired to turn certain genes on or off, or to correct genomic errors with extraordinary precision.2,3 This technology’s applications are far reaching, from cell culture and animal models to translational research that focuses on correcting genetic mutations in diseases such as cancer, hemophilia, and sickle cell disease.4

Researchers exploit plasmids, the small, closed circular DNA strands native to bacteria, as delivery vehicles in CRISPR/Cas9 gene editing protocols. Plasmids shuttle the CRISPR/Cas9 gene editing components to target cells and can be manipulated to control gene editing activity, including targeting multiple genes at a time. Plasmids can also deliver gene repair instructions and machinery. For example, poly (ADP-ribose) polymerase 1 (PARP1) is an enzyme that drives DNA repair and transcription.5 It is a critical aspect of CRISPR/Cas9 gene editing technology in part because it helps repair the DSBs created by the CRISPR/Cas9 system. PARP1 CRISPR plasmids can edit, knockout, or upregulate PARP1 gene expression depending on the specific instructions encoded in the plasmid.

Jan 26, 2024

Experimental Gene Therapy Enables Hearing in Five Children Born Deaf

Posted by in categories: biotech/medical, genetics

Study co-led by HMS scientist corrects gene mutation involved in inner ear function.

Jan 26, 2024

New tool improves the search for genes that cause diseases

Posted by in categories: biotech/medical, genetics

A new statistical tool developed by researchers at the University of Chicago improves the ability to find genetic variants that cause disease. The tool, described in a new paper published January 26, 2024, in Nature Genetics, combines data from genome-wide association studies (GWAS) and predictions of genetic expression to limit the number of false positives and more accurately identify causal genes and variants for a disease.

GWAS is a commonly used approach to identify genes associated with a range of human traits, including most . Researchers compare genome sequences of a large group of people with a specific disease, for example, with another set of sequences from healthy individuals. The differences identified in the disease group could point to genetic variants that increase risk for that disease and warrant further study.

Most human diseases are not caused by a single genetic variation, however. Instead, they are the result of a complex interaction of multiple genes, environmental factors, and host of other variables. As a result, GWAS often identifies many variants across many regions in the genome that are associated with a disease.

Jan 26, 2024

Chinese Lab Created New Coronavirus, 100% Mortality Rate in Human Transgenetic Mice

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

According to a paper submitted for peer review on January 4th, 2024, Lethal Infection of Human ACE2-Transgenic Mice Caused by SARS-CoV-2-related Pangolin Coronavirus GX_P2V(short_3UTR), a new lab-created coronavirus has the potential to kill 100% of those infected with the virus within 8 days of infection.

The mice were genetically modified to express the human ACE2 receptor. This is the receptor responsible for allowing coronavirus to gain cellular entry. The lab infected mice with a coronavirus engineered from a strain found in pangolins. Pangolins are medium-sized animals growing to 12 — 30 inches in length and have the appearance of a scale-plated anteater.

Researchers monitored the mice for signs of infection by recording body weight, taking tissue samples, and monitoring for other symptoms. By the third day post-infection, tissue samples from the infected mice had a significant amount of viral RNA in the brain, eye, lung, and nasal tissue.

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