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Bardet-Biedl syndrome News | Kisho

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Not rare diseases news,
news about your rare disease.

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A recent study identifies multi-omics signatures associated with Alström and Bardet-Biedl syndromes through integrated oral microbiome and metabolome profiling. This research could pave the way for new diagnostic and therapeutic strategies for these rare diseases.

A recent study published in PubMed details the clinical, genetic, and endocrine features of Bardet-Biedl Syndrome across pediatric and adult cohorts. This research enhances understanding of the disease's manifestations and may inform future therapeutic strategies.

A recent study published in PubMed explores health-related quality of life, executive functioning, and eating behaviors in adults with Bardet-Biedl syndrome. This research provides insights into the daily challenges faced by this patient population.

A recent case series published in PubMed highlights Bardet-Biedl syndrome in two sibling pairs, contributing to the understanding of this rare genetic disorder. The findings may provide insights into familial patterns and genetic counseling for affected families.

A study published in PubMed details the genotypic spectrum and clinical features of Bardet-Biedl syndrome in India, based on a single-center cohort. This research contributes to the understanding of the disease's genetic diversity and clinical presentation in the region.

A study identifies dual mutations in CEP290 and GLI3 in an infant presenting with Leber congenital amaurosis and postaxial polydactyly, resembling Bardet-Biedl syndrome. This research enhances understanding of genetic contributions to these rare conditions.

A novel protein truncating mutation in the TTC8 gene has been identified as the cause of Bardet-Biedl Syndrome in a Pakistani family. This discovery adds to the understanding of genetic factors contributing to BBS.

Not rare diseases news,news about your rare disease.