Current Genetic Medicine Reports publishes expert review articles on the most significant recent developments in the field. International authorities in genetic medicine serve as Section Editors, choosing key topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. Coverage spans the subject, including such topics as cancer genetics, cardiovascular genetics, clinical genetics, cytogenetics, epigenetics, genetic counseling and clinical testing, genomics, neurogenetics/psychiatric genetics, pharmacogenomics and reproductive genetics/developmental genealogy. Current Genetic Medicine Reports elucidates diagnosis, management, susceptibility, therapeutic and biological mechanism implications relevant to associations between genetics and disease.
Current Genetic Medicine Reports
Description
Identifiers
e-ISSN | 2167-4876 |
DOI | 10.1007/40142.2167-4876 |
Publisher
Springer US
Additional information
Data set: Springer
Articles
Current Genetic Medicine Reports > 2019 > 7 > 3 > 145-152
Purpose of Review The study of the genetic basis of sudden cardiac death has been impacted by advances in sequencing technology, gene variant interpretation, and additional evaluation into the ideal clinical approach to assessing cause of death and the medical and psychological risks of surviving family members. This short review aims to summarize recent publications as well as provide context for...
Current Genetic Medicine Reports > 2019 > 7 > 3 > 153-161
Purpose of Review Biobank research brings together participants, their samples and data, and researchers to provide a productive and efficient resource that advances discovery, prevention, diagnosis, and treatment. This mini-review addresses the importance of governance issues regarding consent, privacy and confidentiality, data sharing, and return of results in biobanks that utilize genomic sequencing...
Current Genetic Medicine Reports > 2019 > 7 > 3 > 162-167
Purpose of Review Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in the SMN1 gene. It is relatively common worldwide, affecting approximately 1 in 11,000 live births, and about 1 in every 54 individuals is a carrier. The FDA-approved nusinersen (Spinraza) in December 2016 and onasmenogene abeparvovec (Zolgensma) in May 2019 for treatment of SMA after clinical...