Publications by authors named "Hannah Macpherson"
Background: The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.
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- Mutations in a specific gene are linked to Gaucher disease and significantly increase the risk for Parkinson's disease, but studying this gene is challenging due to its similar pseudogene.
- By using long-read RNA sequencing, researchers were able to differentiate and quantify expression levels between the gene and its pseudogene, finding previously unrecognized transcripts.
- The study revealed that many transcripts from both genes do not have the known lysosomal functions, indicating they may have other roles in the brain, which could change how we understand their impact on health and disease.
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- Pick's disease is a rare form of frontotemporal dementia characterized by Pick bodies in the brain, which are linked to the MAPT gene and its haplotypes, H1 and H2.
- The study aimed to investigate how the MAPT H2 haplotype influences the risk, age of onset, and duration of Pick's disease.
- Data was collected from 338 individuals with confirmed Pick's disease across multiple sites, and associations of MAPT variants with the disease were analyzed using statistical models.
Background: Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant ataxia with invariable sensory neuropathy originally described in a family with Swedish ancestry residing in Utah more than 25 years ago. Despite tight linkage to the 16q22 region, the molecular diagnosis has since remained elusive.
Objectives: Inspired by pathogenic structural variation implicated in other 16q-ataxias with linkage to the same locus, we revisited the index SCA4 cases from the Utah family using novel technologies to investigate structural variation within the candidate region.
Article Synopsis
- - Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a rare neurodegenerative disease linked to genetic mutations, particularly biallelic AAGGG repeat expansions in the RFC1 gene.
- - A study analyzed whole genome sequencing data from almost 10,000 individuals and discovered three new repeat variations related to CANVAS, alongside confirming the pathogenic nature of larger AAAGG expansions.
- - The research highlights the need for careful genetic testing in CANVAS patients, especially for those carrying specific repeat configurations, to ensure accurate diagnosis and family counseling.
Background: Pick's disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal and temporal brain lobes. PiD is characterised by the presence of Pick bodies which are formed from aggregated, hyperphosphorylated, 3-repeat tau proteins, encoded by the gene.
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- Over 1,000 unexplained pediatric hepatitis cases have been identified globally, with a study focusing on 38 cases and various control groups to understand potential viral causes.
- High levels of adeno-associated virus 2 (AAV2) DNA were found in most cases, while low levels of adenovirus and human herpesvirus 6B were also detected; however, AAV2 appeared infrequently in healthy controls even when they were immunocompromised.
- The study suggests that abnormal replication of AAV2, potentially influenced by other viruses like HAdV and HHV-6B, may be responsible for immune-related liver disease in susceptible children.
As the primary genetic determinant of immune recognition of self and non-self, the hyperpolymorphic HLA genes play key roles in disease association and transplantation. The large, variably sized HLA class II genes have historically been less well characterized than the shorter HLA class I genes. Here, we have used Pacific Biosciences Single Molecule Real-Time (SMRT®) DNA sequencing to perform four-field resolution HLA typing of HLA-DRB1/3/4/5, -DQA1, -DQB1, -DPA1 and -DPB1 from a panel of 181 B-lymphoblastoid cell lines from the International HLA and Immunogenetics Workshops.
View Article and Find Full Text PDFHLA-DQB1*06:358 differs from HLA-DQB1*06:09:01:01 by two single nucleotide substitutions: 2949 C>T and 3001 A>T.
View Article and Find Full Text PDFHLA-DRB1*01:01:01:02 is the first reported intronic variant of DRB1*01:01:01, differing by a single nucleotide substitution.
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