Solutions

Online Inquiry

* Your Name

* Phone Number

* E-mail Address

* Services Interested

Project Description

Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Bardet-Biedl Syndrome (BBS)

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder. As a research service provider, Protheragen is at the forefront of advancing diagnostic and therapeutic solutions for Bardet-Biedl Syndrome.

Overview of Bardet-Biedl Syndrome (BBS)

A case in point of a pleiotropic syndrome is the bardet-biedl syndrome which affects a multitude of organ systems. Obesity, polydactyly, renal defects, and eye issues such as retinal dystrophy are some cardinal features of the syndrome and so are male and female genital malformations as well as learning disabilities. Among Bedouins in Kuwait and Newfoundland, the numbers are alarmingly higher than 1 in 100, 000 cases which is the general estimate for Europe and North America.

The proportion of mutations in each Bardet-Biedl syndrome (BBS) gene.

Fig.1 Contribution of each Bardet-Biedl syndrome (BBS) gene to total mutational load. (Khan S. A., et al., 2016)

To this date, there have been over 21 different genes that were said to cause the syndrome namely the BBS1-BBS21. These account for roughly 80% of the diagnosed syndromes. The most frequent mutations occur in the northern European and North American populations in the BBS1 and BBS10 genes, which account for 51% and 20% of these genotypes.

Diagnostics Development for Bardet-Biedl Syndrome

Genetic Testing and Molecular Diagnosis

The basis of BBS diagnosis relies on genetic testing which has advanced with the development of next generation sequencing (NGS) technologies. The inclusion of all known BBS genes in targeted sequencing panels has become routine practice, achieving diagnostic confirmation in approximately 80% of suspected cases. Novel genes and variants are being identified through the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) especially in cases of diagnostic uncertainty or atypical presentations. For example, recent studies have expanded the genetic spectrum of BBS by identifying mutations in C8ORF37 and IFT172.

Therapeutics Development for Bardet-Biedl Syndrome

AAV-based Gene Therapy
The subretinal injection of AAV2-BBS1 vectors into animal models showed improved BBSome formation and retinal function, which rescued many aspects of the condition.
Exon Skipping Therapy
This approach has been successfully applied in other genetic disorders such as Duchenne muscular dystrophy. In BBS, exon skipping could be particularly beneficial for patients with frame-shifting mutations.

Readthrough Therapy
Preclinical studies have provided evidence supporting the efficacy of protein readthrough therapy in restoring protein function in some ciliopathies such as retinitis pigmentosa and primary ciliary dyskinesia, indicating that it may also be useful for BBS.
Genome Editing
Successful correction of the DNA mutations in some of the ciliopathy models like primary ciliary dyskinesia has been demonstrated at the preclinical stage.

Table 1. Other therapeutics for Bardet-Biedl syndrome. (Forsythe E., et al., 2018)

Therapeutics		Preclinical Studies	Clinical Research
Targeted Therapies	Setmelanotide
Drug Repurposing	Rapamycin
Pharmacogenomic Profiling	BBS pharmacogenomics panel

Disclaimer: Protheragen focuses on providing preclinical research service. 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

Protheragen is committed to providing a one-stop solution for Bardet-Biedl syndrome diagnostics and therapeutics. Our comprehensive approach integrates the most advanced genetic testing, functional analysis, preclinical research, and cutting-edge therapeutic development strategies.

Diagnostics Development

Karyotype Analysis Service
Omics Analysis Service
Biomarker Development Service
Artificial Intelligence Service
Customized Diagnostics Development

Therapeutic Development

Small Molecule Drug
Cell Therapy
Gene Therapy
Therapeutic Antibody
Therapeutic Peptide
Therapeutic Protein
Customized Therapy Development

Disease Models

Bbs1^M390R/M390R Mouse Models
Bbs8 Knockout Mouse Models
Zebrafish Bbs Gene Editing Models
Non-Human Primate Bbs7 Mutation Models

Recognizing the need for comprehensive research to address the various aspects of Bardet-Biedl syndrome, Protheragen offers a comprehensive suite of preclinical research services. If you are interested in our services, please feel free to contact us.

References

Khan, S. A., et al. "Genetics of human Bardet-Biedl syndrome, an updates." Clinical genetics 90.1 (2016): 3-15.
Forsythe, Elizabeth, et al. "Managing Bardet-Biedl syndrome—now and in the future." Frontiers in pediatrics 6 (2018): 23.