Publications by authors named "Bertrand Fin"
Autism is characterized by atypical social communication and stereotyped behaviors. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are detected in 1-2% of patients with autism and intellectual disability, but the mechanisms underpinning the symptoms remain largely unknown. Here, we characterized the behavior of mice from 3 to 12 months of age.
View Article and Find Full Text PDFCharacterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis.
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- Autosomal Dominant Hypercholesterolemia (ADH) is a genetic condition linked to mutations in specific genes, and the study focused on identifying new candidate genes in a French family with varying ADH risk.
- Researchers used advanced genetic techniques to find multiple mutations in known and unknown genes, discovering a set of variants connected with the ADH trait among patients.
- Despite identifying several genetic variants, the findings indicate that no single variant causes elevated LDL cholesterol; rather, a combination of these variants seems necessary to express the ADH phenotype.
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- A study in a French hospital network evaluated the effectiveness of accelerated trio-genome sequencing (GS) for quickly diagnosing rare genetic diseases in newborns and infants admitted to intensive care units.
- Over 14 months, the study found that trio-GS provided a molecular diagnosis for 49% of participants, with an increased rate of 57% after reanalysis, illustrating its potential in urgent medical contexts.
- The research highlighted the need for implementing corrective measures and adjustments to streamline the process, emphasizing that while accelerated GS is valuable, a faster, albeit costlier, option should also be available for extremely urgent cases.
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- Late-onset Alzheimer's disease (LOAD) is the most common type of dementia and is influenced by genetics.
- Researchers studied a lot of people (94,437) to find specific genes that may increase the risk of developing LOAD, confirming 20 known ones and discovering 5 new ones.
- They also found that certain genetic traits related to the immune system and how the brain processes proteins are linked to a higher risk of LOAD, suggesting there are more rare genes yet to be identified that could also play a role.
Next-generation sequencing (NGS) studies are becoming routinely used for the detection of novel and clinically actionable DNA variants at a pangenomic scale. Such analyses are now used in the clinical practice to enable precision medicine. Formalin-fixed paraffin-embedded (FFPE) tissues are still one of the most abundant source of cancer clinical specimen, unfortunately this method of preparation is known to degrade DNA and therefore compromise subsequent analysis.
View Article and Find Full Text PDFAt the dawn of the second millennium, the expansion of the Indian Ocean trading network aligned with the emergence of an outward-oriented community along the East African coast to create a cosmopolitan cultural and trading zone known as the Swahili Corridor. On the basis of analyses of new genome-wide genotyping data and uniparental data in 276 individuals from coastal Kenya and the Comoros islands, along with large-scale genetic datasets from the Indian Ocean rim, we reconstruct historical population dynamics to show that the Swahili Corridor is largely an eastern Bantu genetic continuum. Limited gene flows from the Middle East can be seen in Swahili and Comorian populations at dates corresponding to historically documented contacts.
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