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Floating-Harbor Syndrome (FHS)

The absence of modifying treatments of Floating-Harbor syndrome (FHS) makes managing the condition extremely challenging on a clinical level. From diagnosis to therapy, Protheragen aims to tackle the many complexities associated with FHS to deliver better and more effective solutions. With us as your trusted collaborator in FHS therapeutic research, we ensure that all aspects of your scientific inquiry are addressed through our multifaceted, high-quality, integrated services.

Introduction to Floating-Harbor Syndrome (FHS)

Floating-Harbor syndrome (FHS) is an ultra-rare condition that is inherited in an autosomal dominant fashion. It is marked by specific facial morphological abnormalities, extreme short stature, pronounced speech and language difficulties, and a markedly delayed skeletal maturation. Initially described in 1973, it is estimated that fewer than 1 in 1,000,000 people are affected by FHS, underscoring the need for research and treatments focused on rare diseases.

Fig.1 A diagram showing potential pathogenetic mechanisms underlying the Floating-Harbor syndrome (FHS). (Turkunova M E, et al., 2022)

Pathogenesis of Floating-Harbor Syndrome (FHS)

Floating-Harbor syndrome (FHS) is associated with heterozygous truncating mutations within the SRCAP gene which is responsible for a chromatin remodeling protein critical in transcriptional regulation. These loss-of-function mutations, mostly found in exon 34, disrupt SRCAP's interaction with CREBBP/EP300 histone acetyltransferases which results into incorrect epigenetic modification. This disruption causes impairment in the transcribed gene regulation systems necessary in skeletal growth, craniofacial development, and neurocognition.

Therapeutic Development for Floating-Harbor Syndrome (FHS)

Drug Names	Mechanism of Action	Targets	Research Phase
Somatropin	Mimics endogenous growth hormone, stimulating IGF-1 production to promote linear growth.	Growth hormone receptor (GHR)	Approved
Vorinostat	Blocks histone deacetylases (HDACs), restoring chromatin accessibility and gene expression altered by SRCAP dysfunction.	HDAC proteins	Preclinical

Disclaimer: Protheragen focuses on providing preclinical research service s . This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

As a preclinical research service provider for Floating-Harbor syndrome (FHS), Protheragen provides end-to-end diagnostic and therapeutic development solutions. We excel in building physiologically relevant models, including in vitro models, animal models, and specialized blood-brain barrier (BBB) models, to enable comprehensive biomarker discovery, target validation, and CNS drug efficacy optimization.

Therapeutic Development Services

By Molecule Types

By Mechanism of Action

Disease Model Development Services

In Vitro Model Development

Microfluidic Model Development

Animal Model Development

SRCAP Conditional Knockout Model: Knock out the SRCAP gene in specific tissues, such as the nervous system and skeletal system.
SRCAP Knock-in Model: Introduce the same SRCAP point mutation as in human FHS.

At Protheragen, we are committed to validating and optimizing therapies for Floating-Harbor syndrome (FHS) through comprehensive pharmacodynamics (PD), pharmacokinetics (PK) and toxicology research services to ensure their successful regulatory approval. If you are interested in our services, please feel free to contact usfor more details and quotation information of related services.

Reference

Turkunova M E, Barbitoff Y A, Serebryakova E A, et al. Molecular genetics and pathogenesis of the floating harbor syndrome: case report of long-term growth hormone treatment and a literature review[J]. Frontiers in genetics, 2022, 13: 846101.

For research use only. Not intended for any clinical use.