A newly discovered RNA-guided gene-editing system, called TIGR, is smaller and more precise than CRISPR, making it a promising tool for gene therapy.
Category: genetics
Apertura Gene Therapy Supports the Broad Institute in Development of Gene Therapy for Prion Disease Using Engineered AAV Capsid Targeting TfR1 for CNS Delivery
Posted in biotech/medical, engineering, genetics, neuroscience | Leave a Comment on Apertura Gene Therapy Supports the Broad Institute in Development of Gene Therapy for Prion Disease Using Engineered AAV Capsid Targeting TfR1 for CNS Delivery
Two remarkable innovations coming together to tackle prion disease: AAVs that leverage human receptors to cross the blood-brain-barrier + a way of epigenetically silencing the gene encoding prions. I recall reading those cited papers and both are amazing!
BOSTON and NEW YORK, Feb. 28, 2025 /PRNewswire/ — Apertura Gene Therapy, a biotechnology company focused on innovative gene therapy solutions, supports the Broad Institute of MIT and Harvard, and the Whitehead Institute in advancing a gene therapy approach for the treatment of prion disease. The project is led by the Vallabh-Minikel lab at the Broad Institute which is focused on finding a cure for prion disease, and their approach leverages two cutting-edge technologies developed at the Institutes of both the Broad and Whitehead: the CHARM platform designed in Dr. Jonathan Weismann’s lab, and TfR1 capsid, an engineered AAV designed in the lab of Dr. Ben Deverman, Director of Vector Engineering at the Broad Institute and scientific founder of Apertura.
Prion disease is a rare, fatal, neurodegenerative disorder caused by misfolded proteins. The new gene therapy aims to address the root cause by using CHARM (Coupled Histone tail for Autoinhibition Release of Methyltransferase) to target and silence the gene that codes for the disease-causing protein1. This payload will be combined with Apertura’s TfR1 capsid, an adeno-associated virus (AAV) capsid engineered to efficiently cross the blood-brain barrier by binding to the human TfR1 receptor, which facilitates iron transport into brain cells2. Together, these technologies represent a transformative approach to tackling CNS diseases.
“We are thrilled to see the progress being made in the development of this innovative therapy for prion disease,” said Dr. Sonia Vallabh, co-leader of the group at the Broad working on preventative therapies for prion disease. “The collaborative efforts between Apertura, the Broad Institute and the Whitehead mark a significant milestone toward addressing unmet needs in neurodegenerative disorders.”
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This is the prophesied follow-up to my fastpunch through humanism, covering some 20th century reactions to humanist thought. I hypothesize that we’re at something of a standoff between humanism and posthumanism, as our political and educational institutions are struggling to terms with changing technical contexts.
If you like the work there’s more at https://spoti.fi/3f0OIXD and / plasticpills.
Addendum: Sometimes posthumanism is confused with transhumanism, which I had planned to cover in this video but it was getting too long. Transhumanism is often humanistic in that it privileges the same capacities that humanism does–intellect, memory, progress, consciousness–and proposes that our bodies can be technologically or genetically augmented to improve these capacities in new stages of human develepment– uploading our consciousness into the cloud or staving off mortality. Posthumanists, by and large, tend to de-emphasize the supposed value of those ends in the first place, although there is some overlap.
Thanks for watching!
Researchers studying a protein linked to a rare, severe disease have made a discovery that sheds light on how cells meet their energy needs during a severe metabolic crisis. The findings could lead to new treatments for the disease and open new avenues of research for other conditions involving impaired fat metabolism.
When scientists at the Centre for Genomic Regulation (CRG) in Barcelona first identified a handful of protein-coding genes called TANGO in 2006, they had no idea that one of them, TANGO2, would eventually be linked to a life-threatening disorder in children. In 2016, the researchers found that mutations in TANGO2 cause a rare disease now officially recognized as TANGO2 Deficiency Disorder (TDD).
There are about 110 known patients with TDD worldwide, though there are thought to be an estimated six to nine thousand undiagnosed patients in total.
A study led by UMass Chan Medical School researchers has demonstrated that a gene therapy to correct a mutation that causes maple syrup urine disease (MSUD) prevented newborn death, normalized growth, restored coordinated expression of the affected genes and stabilized biomarkers in a calf as well as in mice.
“Simply put, we believe the gene therapy demonstrated in both animal species, especially in the cow, very well showcases the therapeutic potential for MSUD, in part because the diseased cow, without treatment, has a very similar metabolic profile as the patients,” said Dan Wang, Ph.D., assistant professor of genetic & cellular medicine.
Dr. Wang is co-principal investigator with Heather Gray-Edwards, DVM, Ph.D., assistant professor of genetic & cellular medicine; Guangping Gao, Ph.D., the Penelope Booth Rockwell Chair in Biomedical Research, director of the Horae Gene Therapy Center, director of the Li Weibo Institute for Rare Diseases Research and chair and professor of genetic & cellular medicine; and Kevin Strauss, MD, adjunct professor of pediatrics and head of therapeutic development at the Clinic for Special Children in Gordonville, Pennsylvania.
A rare genetic disease that ravages some but spares others has baffled researchers — until now.
Researchers found that a genetic variant, HAQ-STING, acts as a shield against COPA Syndrome, a discovery that could lead to life-changing gene therapies. For families long plagued by the disease, the revelation was both an explanation and a beacon of hope.
A breakthrough in understanding COPA syndrome.
A new algorithm, Evo 2, trained on roughly 128,000 genomes—9.3 trillion DNA letter pairs—spanning all of life’s domains, is now the largest generative AI model for biology to date. Built by scientists at the Arc Institute, Stanford University, and Nvidia, Evo 2 can write whole chromosomes and small genomes from scratch.
It also learned how DNA mutations affect proteins, RNA, and overall health, shining light on “non-coding” regions, in particular. These mysterious sections of DNA don’t make proteins but often control gene activity and are linked to diseases.
The team has released Evo 2’s software code and model parameters to the scientific community for further exploration. Researchers can also access the tool through a user-friendly web interface. With Evo 2 as a foundation, scientists may develop more specific AI models. These could predict how mutations affect a protein’s function, how genes operate differently across cell types, or even help researchers design new genomes for synthetic biology.
New therapies for managing aging could emerge from research into a new gene, which scientists have identified as a key driver of degeneration.
Age-related diseases are strongly linked to inflammation which, when chronic, albeit low-grade, contributes to conditions such as cardiovascular disease, diabetes, neurodegeneration, and sarcopenia, significantly impacting health and longevity.
In a study published in Nature Communications, Dr. Ildus Akhmetov, a geneticist at Liverpool John Moores University’s School of Sport and Exercise Sciences, along with colleagues from Italy, Switzerland, and the Netherlands, uncovered groundbreaking insights into the role of the Ectodysplasin A2 Receptor (EDA2R) in this process.
New therapies for managing ageing could emerge from research into a new gene, which scientists have identified as a key driver of degeneration.
Age-related diseases are strongly linked to inflammation which when chronic, albeit low-grade, contributes to conditions such as cardiovascular disease, diabetes, neurodegeneration, and sarcopenia, significantly impacting health and longevity.
In a study published in Nature Communications, Dr Ildus Akhmetov, a geneticist at Liverpool John Moores University’s School of Sport and Exercise Sciences, along with colleagues from Italy, Switzerland, and the Netherlands, uncovered groundbreaking insights into the role of the Ectodysplasin A2 Receptor (EDA2R) in this process.