Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases

Miles D Thompson

doi:10.3390/genes15060715

Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases

Genes (Basel). 2024 May 31;15(6):715. doi: 10.3390/genes15060715.

Author

Miles D Thompson¹

Affiliation

¹ Krembil Brain Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, ON M5T 2S8, Canada.

Abstract

Genetic counseling and treatment options for rare developmental disabilities (DDs) have been revolutionized by the opportunities made possible by using massively parallel sequencing for diagnostic purposes [...].

Publication types

Editorial
Introductory Journal Article

MeSH terms

Developmental Disabilities / diagnosis
Developmental Disabilities / genetics
Developmental Disabilities / therapy
Genetic Counseling* / methods
Genetic Testing / methods
High-Throughput Nucleotide Sequencing / methods
Humans
Phenotype*
Rare Diseases* / diagnosis
Rare Diseases* / genetics
Rare Diseases* / therapy

Grants and funding

This research received no external funding.