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Category: biotech/medical – Page 19

CRISPR Technology: Transforming the Future of Medicine and Diagnostics

Among the many promising possibilities of using CRISPR-based therapeutics, their translational use in monogenic human genetic diseases has the potential to provide long-term therapy after a single treatment. Genetic disorders can be treated with the help of CRISPR by editing the defective (disease-causing) gene or by editing the enhancer or regulator of the defective gene. Numerous studies, which are summarized in the table below (Table ), have shown promising results by using these two approaches.

3. Examples of CRISPR-Based Therapeuticsfor the Treatment of Genetic Disorders.

DiseaseCRISPR targetapproachmajor outcome of the studyreferenceDuchenne muscular dystrophydystrophin gene (DMD)single or multiplexed sgRNAs were developedto restore thedystrophin reading frame by targeting the mutational hotspot at exons45–55 and introducing shifts within exons or deleting one ormore exonsdystrophin expression is restored in vitroOusterout et al. Huntington’sdiseaseHuntingtin gene (HTT)HTT 5′ UTR was targetedimpropermaturation of the transcript and reducing the expressionof the disease-causing alleleKolli et al.a dual sgRNA approachwas used in vitro toexcise a 44kb promoter region upstream of a mutant HTT gene to silence its expressionexpression of the Huntington’sdisease-causing variant wasablatedShin et al.glaucomamyocilin gene (MYOC)Knocked down the expression of mutant MYOC in a mouse model of primary open-angle glaucomareductionof ER stress, lower intraocular pressure, and thepreventability of further glaucomatous damage in mouse eyes was observed. The authors also demonstrated the feasibility of utilizing CRISPR/Cas9in human eyes with glaucomaJain et al.hereditary tyrosinemiatype Ifumarylacetoacetate hydrolase gene (FAH)HDR-mediated point mutation correction in mouse hepatocytes.a significant proportion of alleles were correctedVanLith et al. Leber congenital amaurosis type 10 (LCA10)centrosomalprotein 290 gene (CEP290)AAV5-basedtherapy (EDIT-101) encapsulates Staphylococcusaureus Cas9 (SaCas9) and two sgRNAs targeting genomic locationsupstream and downstream of the intronic CEP290 pointmutation. The two sgRNAs enable cutting around the mutation to induceits removal or inversionnormal splicing of CEP290 pre-mRNA was restoredMaeder et al. Noonan syndromeleucine zipper like post translational regulator 1 gene (LZTR1)intron 16 of LZTR1 was targetedthe gene editing process could overcomethe disease phenotypeassociated with Noonan syndrome-associated cardiomyopathy in iPSC-derivedcardiomyocytes in vitroHanses et al. Angelman syndromeUBE3A-ATS Inc. RNAUBE3A-ATS Inc. RNA was targetedin cultured human neurons andin a mouse model of the diseasetargeting of UBE3A-ATSablated its function, leading to expressionof the paternal UBE3A gene and rescuing the diseasephenotypeWolter et al.congenital muscular dystrophy type 1A (MDC1A)laminin subunit alpha 1 gene (LAMA1)CRISPR activator mediated gene upregulation3.6-foldupregulation of LAMA1 was observedKemaladevi et al.genetic deafnesstransmembrane channel like 1gene (TMC1)non-homologous end joining(NHEJ)-mediated mutant Tmc alleledisruptiondeafness was prevented in mouse models upto one year postinjectionGyörgy et al.

Iatrogenic Cerebral Amyloid Angiopathy After Cardiac SurgeryTwo Case Reports

Authors describe 2 cases of likely iatrogenic cerebral amyloid angiopathy after cadaveric dura mater use for cardiac surgery during infancy. Both are remarkable for their early age at onset, lack of genetic risk factor, and demonstration of brain amyloidosis.

To alert on the risk of interhuman transmission of β-amyloid (Aβ) pathology leading to cerebral amyloid angiopathy (CAA) after non-neurosurgical procedures, here cardiovascular procedures, using cadaveric dura mater (DM) patches.

Unlocking secrets of human development: How early nerve cell choices shape the peripheral nervous system

Millions of neurons branch throughout our bodies, keeping them in close communication with our brains. This peripheral network begins to take shape long before birth, as the cells of a growing embryo move into position and adopt their specialized roles. This crucial stage of human development can’t be monitored directly, but by examining genetic clues that linger in adult cells, scientists have now gained surprising insights into the developmental origins of the peripheral nervous system.

Researchers led by Xiaoxu Yang, Ph.D., at University of Utah Health, and Keng Ioi Vong, Ph.D., and Joseph Gleeson, M.D., at the University of California San Diego, have discovered that within the first few weeks of development, some of an embryo’s cells have already been selected to take on particular roles in the peripheral nervous system. Their findings, recently reported in the journal Nature, overturn longstanding assumptions in biology.

Their discovery could change the way scientists think about treatments for a variety of childhood diseases that begin in the cells of the peripheral nervous system.

Multiple myeloma cells adapt after immunotherapy, helping explain why many patients relapse

Multiple myeloma is the second most common blood cancer in adults. It starts in the white blood cells that are responsible for creating antibodies that help the body fight infections. Once the myeloma cells begin to multiply, it makes it harder for the blood cells to function properly. There are effective treatments for multiple myeloma, including immunotherapies that can significantly extend survival; however, in some, the cancer cells become treatment resistant.

A University of Calgary study led by members of the Arnie Charbonneau Cancer Institute, published in Nature Medicine, takes a closer look at why patients often relapse after immunotherapy by studying how the myeloma cells adapt to treatment. By understanding how the cancer builds resistance, future treatments can be designed to take this into account with the goal of preventing another relapse.

“Multiple myeloma tumor cells are highly adaptable under therapeutic pressure,” says Dr. Holly Lee, MD, Ph.D., a clinical assistant professor at the Cumming School of Medicine and first author on the study. “A treatment could be incredibly effective, bringing disease bulk down from about 100% to about 1% to 2% but all it took was that one to two percent of the cells that were left to adapt and cause this relapse in patients.”

ForSight says it completed first fully robotic cataract surgery

ForSight Robotics said it has completed what it described as the world’s first fully robot-assisted cataract surgery in a human patient, using its proprietary JASPER platform in a procedure the company says could mark a major step toward expanding access to eye surgery worldwide.

The Israel-based surgical robotics company said the operation was performed by Dr. Alexey Rapoport, with Dr. Robert Edward T. Ang of the Asian Eye Institute in Manila serving as principal investigator.

According to the company, the procedure was the first cataract surgery in a human patient to be completed from start to finish with robotic assistance and without the use of general anesthesia, which it said aligns with the standard practice for modern cataract procedures. The company said earlier ophthalmic robotic procedures had been limited to partial tasks during cataract surgery and had been performed under general anesthesia.

Taking a closer look at immune ‘memory’ could spur progress in the fight against lethal illnesses

The average human has about 1.8 trillion immune cells. These cells patrol the body for bacteria, viruses, cancers, and other threats. Vaccines enhance this security system by teaching our immune cells to target specific pathogens. According to the World Health Organization, vaccine-induced immunity saves about six lives every minute. But how long does this protective immune “memory” last?

According to Shane Crotty, Ph.D., Professor and Chief Scientific Officer at La Jolla Institute for Immunology (LJI), we still have much to learn about immune memory.

“There are actually not many studies of human immune memory due to vaccines,” says Crotty. “Scientists traditionally don’t track immune memory past one year after vaccination—or even six months after vaccination—and that’s a bit of a problem.”

Translational prospectives for deep brain stimulation and low-intensity focused ultrasound neuromodulation: IFCN Handbook chapter

[IFCN Handbook chapter: DBS and focused ultrasound neuromodulation] Neumann & Darmani: “In the present book chapter we review emergent innovations that have recently surfaced or are imminent to make the leap, improving the treatment of patients with brain disorders.”

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MS Risk Upped Significantly With EBV Mononucleosis

Laboratory-confirmed Epstein-Barr virus-positive infectious mononucleosis (EBV-mono) was linked to a more than threefold higher risk for multiple sclerosis (MS) than not having EBV-mono, a new retrospective study showed.

“Mononucleosis is a relatively uncommon illness, but developing strategies to prevent infection with the virus that causes this disease could help us to lower the number of MS cases in the future,” lead study investigator Jennifer L. St. Sauver, PhD, Mayo Clinic, Rochester, Minnesota, said in a press release.

Epstein-Barr virus-positive infectious mononucleosis (EBV-mono) is associated with a threefold higher multiple sclerosis risk than not having EBV-mono, new research shows.

Heart Rate Variability Moderates the Association Between Trait Anxiety and Sympathetic Nerve Activity in Humans

A new study challenges the long-standing view that Alzheimer’s is driven primarily by amyloid plaques, instead pointing to a subtle but critical competition inside neurons.

New research led by the University of California, Riverside, suggests Alzheimer’s disease may not be driven solely by plaque buildup in the brain, as widely believed. Instead, it may result from one protein disrupting the normal function of another.

For years, scientists have focused on amyloid beta (a-beta) as the main cause of Alzheimer’s. Clusters of this protein are commonly found in patients, and genetic mutations that raise a-beta levels are known to trigger early-onset Alzheimer’s.

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