Publications by authors named "J E Motelow"
Article Synopsis
- The study focuses on early preterm infants who are small for gestational age (SGA) and examines the role of genetic disorders in their high rates of morbidity and mortality.
- Researchers conducted a retrospective analysis of infants born between 2000-2020, comparing the prevalence of genetic disorders in SGA infants (with and without congenital anomalies) to those who were appropriate for gestational age (AGA).
- Findings revealed that genetic disorders were identified in a small percentage of SGA infants, with trisomies 13, 18, and 21 being the most common, highlighting the need for further research on genetic factors contributing to their health outcomes.
Childhood interstitial lung disease (chILD) secondary to pulmonary surfactant deficiency is a devastating chronic lung disease in children. Clinical presentation includes mild to severe respiratory failure and fibrosis. There is no specific treatment, except lung transplantation, which is hampered by a severe shortage of donor organs, especially for young patients.
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- ALS is a neurodegenerative disease affecting over 300,000 people globally, with a notable genetic component; about 15% of diagnosed individuals have a genetic variant related to the disease.
- The study used an extensive cohort (6,970 ALS patients, 166 PLS patients, and 22,524 controls) to conduct rare variant burden testing, aiming to identify new genetic targets for ALS and PLS treatments.
- Significant associations were found with known ALS-related genes (SOD1, TARDBP, TBK1), along with a novel gene (ALKBH3) that appears protective against ALS, highlighting progressive insights into the genetic landscape of the disease.
Accurate estimation of population allele frequency (AF) is crucial for gene discovery and genetic diagnostics. However, determining AF for frameshift-inducing small insertions and deletions (indels) faces challenges due to discrepancies in mapping and variant calling methods. Here, we propose an innovative approach to assess indel AF.
View Article and Find Full Text PDFBackground: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 30,000 people in the United States. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individuals diagnosed with ALS have a known genetic variant that contributes to their disease.
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