Optimizing regulatory frameworks for gene therapies in rare diseases: Challenges and solutions.

The advent of genetic medicines and advanced diagnostics has revolutionized the treatment landscape for rare diseases and, with over 10,000 identified conditions affecting millions globally, has the potential to improve many lives. Despite this progress, only 5% of rare diseases have FDA-approved therapies, highlighting a significant unmet need. This article examines the critical need for optimizing the regulatory environment to support the development and approval of gene therapies for rare and ultrarare diseases, which often face unique challenges due to their complexity in the midst of a rapidly evolving field.

Comparison of the mid-infrared spectra and prediction equations developed from morning and evening milk samples from twice-a-day milked dairy cows.

Mid-infrared spectroscopy is a technology used globally for quantifying the concentration of fat, protein, lactose and other constituents in the milk samples of both individual animals and bulk tank milk. Differences in the milk components and yield of cows are known to exist between morning and evening milk; nonetheless, differences in the spectra originating from the same cow from morning and evening milkings have never been investigated. Data was obtained from 2,602 dairy cows from 7 research farms in Ireland.

Gut microbiota genome features associated with brain injury in extremely premature infants.

Severe brain damage is common among premature infants, and the gut microbiota has been implicated in its pathology. Although the order of colonizing bacteria is well described, the mechanisms underlying aberrant assembly of the gut microbiota remain elusive. Here, we employed long-read nanopore sequencing to assess abundances of microbial species and their functional genomic potential in stool samples from a cohort of 30 extremely premature infants.

Sire mating advice framework for cattle to recommend which beef bull to mate to individual dairy females.

A decision support tool or system is a computerized information system used to support decision-making in a business; one central component to profitable dairy cattle production systems is the appropriate mating of bulls and females. While tools have been described to aid mating decisions between dairy bulls and dairy females, or between beef bulls and beef females, there is a void of such tools that recommend which beef bull to mate to individual dairy females. The objective of the present study was to develop and validate a framework, founded on linear programming, to aid herd-level mating decisions where the bull-female mating is tailored based on complementarity and compatibility of both mates; consideration in the process was given to the genetic merit of both mates for a series of traits as well as the life history of the female herself.