Elamipretide Gets Orphan Drug Status for Friedreich Ataxia
Elamipretide has been shown to improve frataxin levels in Friedreich ataxia patient-derived cells, and improve motor and cardiac function in an animal model of Friedreich ataxia.
Genetic Disease
Friedreich Ataxia Impacts Growth and Weight Gain in Adult and Pediatric Patients
In a prospective natural history study, researchers tested the association between body mass index and height and clinical characteristics in Friedreich ataxia.
De Novo Variants in SPTLC1 Gene Associated With Juvenile ALS
Using exome sequencing, researchers shared results of family-based genetic study on the genetic variants associated with juvenile amyotrophic lateral sclerosis.
TP73 Gene Variants Tied to Risk for Sporadic Amyotrophic Lateral Sclerosis
Researchers used sequencing data to evaluate the pathogenicity of TP73 variations in amyotrophic lateral sclerosis.
Case Study: Early Onset Parkinson Disease Linked to PARK7 Mutation and UPD
This case study detailed a patient with Parkinson disease who inherited 2 identical pathogenic PARK7 variants from her father, resulting in uniparental isodisomy of chromosome 1.
Can the Genetic Overlap of ADHD and Autism Guide Better Treatment?
Study researchers investigated the genetic overlap between ADHD and autism to determine if shared gene variants may provide insight into treatment targets.
WHO Calls for Global Registry of Human Genome Editing
The WHO issued new recommendations on human genome editing that include a call for a global registry to track “any form of genetic manipulation”.
Gene Therapy Candidate Fast Tracked for GM1 Gangliosidosis
LYS-GM101 is a gene therapy designed to replace the gene mutation and restore the production of the beta-galactosidase enzyme.
New Gene Variants Identified That May Raise Risk for ALS
Variants in TP73 are associated with risk for amyotrophic lateral sclerosis (ALS), according to a study published online.
Genetic Variants Linked to Lacunar Stroke and White Matter Hyperintensity
Study researchers sought to identify novel associations of loci with lacunar stroke and provide mechanistic insights into this disease.
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