Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.

Objective: COASY, the gene encoding the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to two exceedingly rare autosomal recessive disorders, such as COASY protein-associated neurodegeneration (CoPAN), a form of neurodegeneration with brain iron accumulation (NBIA), and pontocerebellar hypoplasia type 12 (PCH12). We aimed to expand the phenotypic spectrum and gain insights into the pathogenesis of COASY-related disorders.

Methods: Patients were identified through targeted or exome sequencing.

Thirty-years of genetic counselling education in Europe: a growing professional area.

Genetic counselling education and training in Europe spans a continuum of 30 years. More master programs are opening due the demand for qualified genetic counselors. This report describes the evolution of training in Europe and the current state of genetic counselling training programs.

An European overview of genetic counselling supervision provision.

Genetic testing is becoming more commonplace in general and specialist health care, and should always be accompanied by genetic counselling, according to legislation in many European countries and recommendations by professional bodies. Personal and professional competence is necessary to provide safe and effective genetic counselling. Clinical and counselling supervision of genetics healthcare practitioners plays a key role in quality assurance, providing a safe environment not only for patients but for professionals too.

[Not Available].

[This corrects the article DOI: 10.1515/medgen-2022-2116.].