Research Centre for Medical Genetics

Electroretinography in assessing the effectiveness of Retinalamin in age-related macular degeneration

Positive results of clinical trials (CIs) on the use of Retinalamin in patients with various diseases of the optic nerve and retina have been documented in the literature. To improve the objectivity of the study results and minimize bias, we conducted a randomized controlled clin...

Case Report: Hermansky-Pudlak syndrome type 1 in the Russian Federation presenting with genotype-phenotype discordance

Background Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in the biogenesis of lysosome-related organelles (LROs) across multiple tissues. This condition typically presents with a triad of oculocutaneous albinism, platelet dysfunction, an...

Tourettic obsessive-compulsive disorder: A clinical-phenomenological dilemma at the intersection of neurology and psychiatry

In recent years, the notion of Tourettic obsessive-compulsive disorder (Tourettic OCD), viewed as a distinctive endophenotype of Gilles de la Tourette syndrome, has garnered increasing attention. Despite this growing interest, clinical observations of affected patients remain spa...

CFTR Functional Rescue and Heterogeneous Clinical Outcomes Following Elexacaftor/Tezacaftor/Ivacaftor Therapy in People with Cystic Fibrosis Carrying the W1282R Variant

The clinical response to elexacaftor/tezacaftor/ivacaftor (ETI) in people with cystic fibrosis carrying the rare cystic fibrosis transmembrane conductance regulator (CFTR) variant W1282R has not been well characterized. We retrospectively analyzed 12 people with cystic fibrosis t...

The “Dove Drawing” Appearance of the Ilium in Spondyloepiphyseal Dysplasia Congenita: A Proposed Radiographic Sign

Recognizable radiographic signs aid in the differential diagnosis of skeletal dysplasias. Spondyloepiphyseal dysplasia congenita (SEDC), a COL2A1-related disorder, presents with characteristic but sometimes subtle pelvic changes in early childhood. To propose a novel pelvic radio...

Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon

NHLRC2-associated FINCA disease is an ultra-rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in NHLRC2. Its mutational spectrum and genotype–phenotype correlations remain incompletely defined, and the contribution of non-coding variants is poo...