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Mechanism of Genome Editing Tools and Their Application on Genetic Inheritance Disorders.
Glob Med Genet
December 2024
Institute of Green Manufacturing Technology, Korea University, Seoul, Republic of Korea.
In the fields of medicine and bioscience, gene editing is increasingly recognized as a promising therapeutic approach for treating pathogenic variants in humans and other living organisms. With advancements in technology and knowledge, it is now understood that most genetic defects are caused by single-base pair variants. The ability to substitute genes using genome editing tools enables scientists and doctors to cure genetic diseases and disorders.
View Article and Find Full Text PDFNovel gene therapies for sickle cell disease, Duchenne muscular dystrophy, and hemophilia A.
JAAPA
November 2024
Laura Solano is a genetics professor in the biomedical sciences master's program at A.T. Still University and practices clinically at Pediatric Associates in Fort Worth, Tex. The author has disclosed no potential conflicts of interest, financial or otherwise.
This article discusses novel genetic therapies for sickle cell disease, Duchenne muscular dystrophy, and hemophilia A. Gene therapies have the potential to deliver more targeted and effective approaches to treatment, especially for rare diseases for which the availability of approved therapies is limited. This article describes the first FDA-approved CRISPR/Cas9 treatment and the treatment protocols, indications, warnings, precautions, cost, and contraindications of four novel genetic therapies.
View Article and Find Full Text PDFPfizer Marks Phase III Success in Hemophilia A, then Layoffs after Failure in DMD.
Hum Gene Ther
September 2024
Genetic Engineering & Biotechnology News Mary Ann Liebert, Inc., publishers 140 Huguenot Street New Rochelle, NY 10801.
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage.
Prenat Diagn
August 2024
Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Objective: To establish a haplotype-based noninvasive prenatal testing (NIPT) workflow for single-gene recessive disorders that adapt to dizygotic (DZ) twin pregnancies.
Method: Twin pregnancies at risk of Duchenne muscular dystrophy, Becker muscular dystrophy, hemophilia B, spinal muscular atrophy, phenylketonuria, and nonsyndromic hearing loss were recruited. For subsequent analysis, capture sequencing targeting highly heterozygotic single nucleotide polymorphism sites was conducted.
Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.
BioTech (Basel)
January 2024
Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI 48824, USA.
Gene therapy holds promise as a life-changing option for individuals with genetic variants that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA), cerebral adrenoleukodystrophy, β-Thalassemia, hemophilia A/B, retinal dystrophy, and Duchenne Muscular Dystrophy have generated buzz around the ability to change the course of genetic syndromes. However, this excitement risks over-expansion into areas of genetic disease that may not fit the current state of gene therapy.
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