Publications by authors named "G Kupchik"
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders.
View Article and Find Full Text PDFKARS1 encodes a lysyl-transfer RNA synthetase (LysRS) that links lysine to its cognate transfer RNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi-allelic pathogenic variants in KARS1 have been associated to sensorineural hearing and visual loss, neuropathy, seizures, and leukodystrophy.
View Article and Find Full Text PDFArticle Synopsis
- Deletions on chromosome 15q14 can cause cleft palate and are often linked with intellectual disabilities, facial abnormalities, and heart defects, with MEIS2 gene haploinsufficiency being a potential reason for these issues.
- Researchers studied 23 new patients, gathering data on 9 with MEIS2 sequence variants and 14 with microdeletions, primarily using whole-exome sequencing.
- Patients displayed not only cleft palate and heart issues but also specific facial features, and those with larger deletions showed more severe intellectual disabilities, suggesting a different genetic factor affecting development near MEIS2.
Objective: The goal was to investigate the prevalence of renal and urinary tract anomalies (RUTAs) in a Down syndrome (DS) population.
Methods: Data were obtained from the New York State Congenital Malformation Registry (NYS-CMR) in this retrospective cohort study. The occurrence of RUTAs was assessed for children with and without DS who were born in NYS between 1992 and 2004.
Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.
View Article and Find Full Text PDF