The US Food and Drug Administration (FDA) has approved viltolarsen (Viltepso; NS Pharma) for the treatment of patients with Duchenne muscular dystrophy amenable to exon 53 skipping, making it only the second FDA-approved therapy for this specific DMD gene mutation.

The agent from NS Pharma, delivered via weekly intravenous infusion, was granted accelerated approval via its priority review, fast track, orphan drug, and rare disease designations after its new drug application was accepted earlier this year. In March, NS Pharma launched an expanded access program for qualified patients.

The approval was granted based on findings from a phase 2 clinical trial (NCT02740972) and long-term extension study, details of which were recently published in JAMA Neurology. Among 16 participants age 4 to 9, significant drug-induced dystrophin production was observed in both viltolarsen dose cohorts (40 mg/kg per week: mean, 5.7% [range, 3.2–10.3] of normal; 80 mg/kg per week: mean, 5.9% [range, 1.1–14.4] of normal), with 15 (94%) patients achieving dystrophin levels greater than 2% of normal and 14 of 16 (88%) achieving levels greater than 3% of normal.

While satellite imaging lets researchers observe the outer life of plankton populations, the complex genetics in microscopic marine life have made looking inward more challenging. According to a new study published in Nature Methods, researchers from the University of East Anglia were able to deliver and express foreign DNA in 13 species that have never before transformed. They were also able to evaluate the potential cause of non-transformation in 17 other species; in turn, laying the foundation for an expanded understanding of genomes discovered in plankton.

The sheer variety of plankton potential — from antibacterial compounds to antiviral and antifungal solutions — makes this a worthwhile endeavor. If scientists can create reliable methods to modify phytoplankton, it should be possible to reduce their toxic impact, better control their bloom cycle and even increase the photosynthetic output — all critical in the fight to keep our oceans blue and our terra firma green.

As noted by Science Magainze, the international research team used a variety of methods to modify plankton DNA. For some species, shooting tiny gold or tungsten particles covered with DNA through cell walls produced the best result. For others, jolts of electricity made cell walls “leaky” and allowed new DNA to seep through. Specific protist successes included modification of a fish-killing toxic plankton species, and one that infects both mollusks and amphibians. While these discoveries don’t present a complete understanding of the genetics in microscopic marine life, they provide a key testing protocol: By modifying genetic structure and then observing how plankton react, teams could uncover ways to boost antibiotic resistance or lower infectious impact. According to lead UK study author Thomas Mock, “These insights will improve our understanding about their role in the oceans, and they are invaluable for biotechnological applications such as building factories for biofuel or the production of bioactive compounds.”

Before the first oncogene mutations were discovered in human cancer in the early 1980s, the 1970s provided the first data suggesting alterations in the genetic material of tumors. In this context, the prestigious journal Nature published in 1975 the existence of a specific alteration in the transformed cell: an RNA responsible for carrying an amino acid to build proteins (transfer RNA) was missing a piece, the enigmatic nucleotide ‘Y.’

After that outstanding observation, virtually no developments were made for forty-five years on the causes and consequences of not having the correct base in RNA.

In an article published in Proceedings of the National Academy of Sciences (PNAS) by the group of Dr. Manel Esteller, Director of the Josep Carreras Leukaemia Research Institute, ICREA Research Professor and Professor of Genetics at the University of Barcelona has solved this mystery by observing that in cancer cells the protein that generates the nucleotide Y is epigenetically inactivated, causing small but highly aggressive tumors.

Hereditary hearing loss is one of the most common disabilities among newborns, affecting approximately 1 in 1000 live-born babies. Most forms of hereditary hearing loss are nonsyndromic; 80% of affected newborns have hearing loss that is inherited in an autosomal recessive pattern, and in the remaining 20%, inheritance shows a dominant pattern.¹

Many forms of hereditary hearing loss are caused by mutations in genes that affect the formation and function of cochlear hair cells — highly specialized sensory cells that play an important role in the detection and processing of sound.¹ The hair cell has bundles of hair-like projections, called stereocilia, on its apical surface ( Fig. 1 ). The deflection of these bundles by sound results in the opening of mechanotransduction ion channels, which are located at the tips of the stereocilia, and consequently, in the depolarization of the hair-cell membrane. Mutations that affect the protein transmembrane channel-like 1 (TMC1), an integral component of the mechanotransduction complex, cause autosomal dominant and autosomal recessive forms of hearing loss.² Correction of the dominant form of hearing loss in a mouse model of Tmc1 (termed “Beethoven”) was recently reported by Gao and colleagues.³

Circa 2019 :3

Scientists at Harvard Medical School and Boston Children’s Hospital have used a novel gene-editing approach to salvage the hearing of mice with genetic hearing loss and succeeded in doing so without any apparent off-target effects as a result of the treatment.