One in three people with cystic fibrosis may experience nephrolithiasis during their life
1. Nearly one in three people with cystic fibrosis experienced nephrolithiasis during their lifetime. 2. The degree of exocrine pancreatic ...
Tag: genetics
Australian couple-based genetic screening program feasible and accepted
1. In this prospective cohort study, genetic screening among Australian reproductive couples was widely accepted and associated with low decisional ...
Genomic sequencing identifies variants linked to congenital diarrhea and enteropathies
1. In this cross-sectional study, nearly half of the infants with congenital diarrhea and enteropathies (CODEs) had identifiable causal variants, ...
![Maternal cell-free DNA sequencing superior to standard aneuploidy screening [CARE Study]](https://www.2minutemedicine.com/wp-content/uploads/2014/02/47-karyotype-350x250.jpg)
Australian couple-based genetic screening program feasible and accepted
1. In this prospective cohort study, genetic screening among Australian reproductive couples was widely accepted and associated with low decisional ...
Cases of neurodevelopmental disorders caused by mutated lncRNA CHASERR
1. Three unrelated children were found to have a de novo deletion in the long non-coding RNA (lncRNA) CHASERR, which ...
The Scan by 2 Minute Medicine®: Concussion Protocol, Monstrous Mosquitoes, Eye Transplants and Taking on 23andMe:
The Scan by 2 Minute Medicine® is a pop-culture medical newsletter and exclusive benefit for 2 Minute Medicine Plus subscribers. ...
Brigatinib decreases the size of NF2-related progressive tumors
1. In this randomized controlled trial, brigatinib reduced the size of progressively growing tumors in patients with neurofibromatosis type 2-related ...
Taysha Gene Therapies: TSHA-102 Gene Therapy Improves Quality of Life in Patients with Rett Syndrome
A patient who received TSHA-102 had durable improvements in motor skills, communication, and socialization. TSHA-102 was well tolerated with no ...
Gene editing improves photoreceptor function in CEP290-associated retinal degeneration
1. In this randomized controlled trial, among patients with centrosomal protein 290 (CEP290)-associated retinal degeneration, subretinal injection of EDIT-101 resulted ...
Genome sequencing may offer diagnostic utility beyond exome sequencing at acceptable cost
1. In this cohort study of families with suspected Mendelian disorders for whom preliminary genetic testing had not revealed a ...
