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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.

Syndromic Microphthalmia

Syndromic microphthalmia is a complex developmental disorder resulting from syndromic microphthalmia development. Consisting of systemic microphthalmia (small eye) or even anophthalmia (absent eye), it is a rare disorder that is usually accompanied by other systemic abnormalities. Protheragen is one of the leaders in developing therapeutics for syndromic microphthalmia due to our full-service offering in molecular diagnostics, preclinical studies, and custom therapeutics.

Overview of Syndromic Microphthalmia

Syndromic microphthalmia describes an array of conditions which include abnormal development of the eye in addition to other systemic features. These splits are quite broad and portray the divergent genetic causes of the condition. Commonly associated anomalies are craniofacial, limb, and organ systems as well as intellectual disability. The genetic basis of syndromic microphthalmia has long been known, with several candidate genes having been recognized as critical for its pathogenesis. These genes such as SMOC1, STRA6, BMP4, and NAA10 are essential for the development of the embryo, especially for the eye and other organ systems.

Fig.1 Impact of the genetic variant in syndromic congenital microphthalmia canine model. (Murgiano L., et al., 2024)

Diagnostics Development for Syndromic Microphthalmia

Genetic Testing and Next-Generation Sequencing
For syndromic microphthalmia, causative mutations in a set of already defined disease-associated genes are usually identified through genetic testing. Next-generation sequencing (NGS) has transformed the field by allowing researchers to interrogate many genes at the same time, thus ensuring a higher yield of diagnosis. For instance, targeted NGS panels that capture the SMOC1, STRA6, BMP4, and NAA10 genes have been designed for microphthalmia.

Whole-Exome Sequencing and Whole-Genome Sequencing
With regards to the absence of a causal mutation from the comprehensive targeted NGS panel, WES or WGS sequencing may be used. WES targets the coding portion of the genome, whereas WGS encompasses the complete genome.As for new findings, there have been recently reported WES studies that have uncovered novel mutations in a NAA10 gene which add to the known genetic diversity of syndromic microphthalmia.

Therapeutics Development for Syndromic Microphthalmia

Recent attempts at drug therapy development for syndromic microphthalmia have been met with challenges owing to the genetic and phenotypic variance characterizing the condition. Nonetheless, breakthroughs in molecular biological understanding of the eye developmental processes provide tools for more precise drug design. For instance, there is ongoing research on small molecule inhibitors of the BMP signaling pathway that is known to be perturbed in some types of syndromic microphthalmia. Furthermore, given the pivotal role of the STRA6 gene in retinol (vitamin A) transport, drugs which augment retinol metabolism might be of therapeutic benefit for certain microphthalmia syndromes.

Our Services

Protheragen is focused on moving forward with the research and development of therapies for syndromic microphthalmia. We integrate diagnostic molecular, preclinical research, and therapeutic development. By leveraging cutting-edge technologies and a multidisciplinary approach, Protheragen aims to provide innovative solutions for this complex and challenging condition.

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

Bmp4 Knockout Mouse Models
Naa10 Knockout Mouse Models
Strabismus (strab) Zebrafish Models
Smoc1 Knockout Mouse Models
Induced Pluripotent Stem Cells (iPSCs)

Protheragen's preclinical research services are designed to support the development of novel therapies for syndromic microphthalmia. Our team of experts utilizes advanced animal models and in vitro systems to study the molecular mechanisms underlying the condition and to evaluate the efficacy of potential therapeutic agents. If you are interested in our services, please feel free to contact us.

Reference

Murgiano, Leonardo, et al. "A naturally occurring canine model of syndromic congenital microphthalmia." G3 Genes| Genomes| Genetics 14.6 (2024).