Junction: Hepatology

gene therapy

New Gene Therapy Approach Holds Potential Therapeutic Value in LAL-D

Researchers from France developed a gene therapy approach based on hematopoietic stem cells for the erythroid-specific expression of lysosomal acid lipase (LAL) enzyme in the blood as a potential curative treatment for LAL deficiency (LAL-D). The LAL enzyme is essential for the hydrolysis of cholesteryl ester and triglyceride in the lysosome. So its deficiency leads…


Rapid Whole Genome Sequencing Facilitates Early Treatment of LAL-D

Rapid whole-genome sequencing (rWGS) should become part of the assessment tools as a possibility of diagnosing pediatric patients with lysosomal acid lipase deficiency (LAL-D) who require intensive care unit (ICU) admission, according to a study recently published in Genome Medicine. “A middle ground approach between the expedited analysis in this and other rWGS studies would…


Study Finds Potential Regulators of JAGGED1 Expression in ALGS

Researchers identified 3 transcription factors that are upstream of JAGGED1, an important protein for liver development and physiology, and published their findings in BMC Research Notes. This is an important finding because in diseases like Alagille syndrome (ALGS), where there is a mutation in the gene coding for JAGGED1 in most cases, bile ducts do…


Researchers Clarify the Metabolic Role of TAZ Protein in ALGS

The TAZ protein may play a role in metabolic adaptations to chronic cholestasis and may be important in Alagille syndrome (ALGS), according to a new study published in the FASED Journal. This may have potential implications for the clinical regulation of hypercholesterolemia and long-term liver health. TAZ is a paralog of Yes-associated protein 1 (YAP1),…


People With Rare Diseases Report Facing Stigma, Poor Quality of Life

People with rare diseases who live in the United States have a poor health-related quality of life and experience significant stigma, according to a study published in the Orphanet Journal of Rare Diseases. A rare disease in the United States can be defined as any disease in which the prevalence is less than 200,000 cases.…

medicine physician

Clinicians: Long-Term ERT Leads to Variable Improvements in LAL-D

The long-term use of sebelipase alfa (Kanuma®), an enzyme replacement therapy (ERT), resulted in overall improvements for patients with lysosomal acid lipase deficiency (LAL-D) but with significant interpatient variability, according to an invited commentary published in the Journal of Pediatric Gastroenterology and Nutrition. The commentary discusses the results and impact of a previously published study…

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