Systemic lupus erythematosus (SLE) remains a major clinical challenge due to its broad phenotypic variability, unpredictable disease trajectory, and inconsistent therapeutic responses. The limitations of conventional diagnostic and prognostic tools underscore the need for more precise, data-driven approaches to support clinical decision-making. Artificial intelligence-based methods, including machine learning (ML) have emerged as powerful technologies capable of analyzing complex, high-dimensional data to reveal hidden patterns and enhance disease understanding. These methods are particularly well-suited for tackling the multifactorial nature of SLE and have demonstrated utility in improving diagnostic accuracy, classifying disease subtypes, and guiding personalized treatment strategies. This review offers a clinician-oriented overview of foundational ML approaches and their practical applications in SLE, highlighting how these tools might be incorporated into clinical workflows to support more timely, accurate, and individualized care.

The SET nuclear proto-oncogene (SET; MIM# 600960) is a recently identified cause of autosomal dominant mental retardation-58 (MRD58), characterized by intellectual disability (ID), developmental delay, and variable additional clinical features. This report details two novel cases of MRD58 caused by de novo mutations in the SET gene (one in-frame deletion and one frameshift mutation), broadening the known phenotypic spectrum. Patient 1, a 3-year-old girl, presented with global developmental delay (GDD), seizures, right thumb polydactyly, pes planus and strabismus. Patient 2, a boy aged 1 year and 10 months, exhibited severe GDD, hypotonia, squared skull, and pes planus without seizures. Trio whole-exome sequencing identified novel likely pathogenic SET variants: c.292_294del (p.Thr98del) in Patient 1 and c.491_494del (p.Pro164LeufsTer15) in Patient 2. A review of 14 previously reported cases highlights ID and speech delay as universal features, with motor delay, facial dysmorphism, and skeletal anomalies being common; seizures appear less frequent. These cases underscore MRD58's variable expressivity and emphasize speech/language impairment as a core, persistent deficit. The report aims to enhance clinical recognition and understanding of this rare neurodevelopmental disorder.

Stem cell therapy is being explored for several rare neurological conditions in humans given their potential immunomodulatory, reparative, and regenerative capabilities. Existing standard treatments for most neuroinflammatory and neurodegenerative disorders are primarily palliative, focusing on symptom management rather than addressing underlying disease pathology. The genetic and pathophysiological parallels between many human and animal neurological diseases suggest that companion animals may serve as valuable translational models to drive stem cell research forward. Several rare human neurological conditions with companion animal (particularly canine) correlates include fulminant multiple sclerosis (MS), myasthenia gravis, amyotrophic lateral sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Dravet and Lennox-Gastaut Syndromes, Globoid Cell Leukodystrophy/Krabbe Disease, viral encephalitis, and glioblastoma multiforme (GBM). Validating the safety and feasibility of stem cell transplantation in companion animal models has enabled the development and expansion of innovative therapies. Stem cell therapy may hold promise as a novel treatment option for some rare and aggressive human and companion animal neurological diseases with limited treatment options.