New York, NY  -- New York Blood Center (NYBC) announced Dec. 14 that researcher Dr. Sara Lustigman, head of the Laboratory of Molecular Parasitology at NYBC’s Lindsley F. Kimball Research Institute, led the first-ever effort to generate a high-quality genome assembly of Onchocerca volvulus (O. volvulus), the filarial parasite that causes onchocerciasis, also known as river blindness. The findings were published in the journal Nature Microbiology.

Onchocerca volvulusPhotomicrograph (glycerine mount) of the microfilarial pathogen Onchocerca volvulus in its larval form.Image credit: CDC/Ladene Newton, Wikimedia CommonsIn addition, Dr. Lustigman collaborated on a second research initiative, published in the latest edition of the journal mBio, offering unprecedented insight into the global transcriptional profile (the transcriptome) and the protein profile (the proteome) of each stage of O. volvulus’ life cycle, along with the proteome of its bacterial endosymbiont, Wolbachia.

River blindness, known scientifically as onchocerciasis, is a skin and eye disease transmitted by the Onchocerca volvulus (O. volvulus) parasite that may cause permanent blindness. According to the World Health Organization (WHO), an estimated 18 million people are still infected with O. volvulus; 99% of infected people live in 30 sub-Sahara African countries. The disease also exists in some foci in Venezuela and Brazil, and in Yemen. Onchocerciasis was the first neglected tropical disease (NTD) targeted for control in 1974 by WHO and is now one of the NTD’s targeted for elimination.

The discoveries made by Dr. Lustigman and her colleagues are the culmination of an almost 30-year endeavor to develop a lasting method to eliminate river blindness through novel chemotherapeutic (drug) or immunological (vaccine) means.

“These groundbreaking genome and associated data-set advancements put us one step closer to developing new and urgently needed interventions against river blindness,” Dr. Lustigman said. “Using newly repurposed drugs or novel vaccines will help complete the tremendous task of eliminating onchocerciasis, which the World Health Organization has faced for the past 40 years.” 

The current strategy for elimination of O. volvulus focuses on controlling transmission through ivermectin-based mass drug administration programs that have largely eliminated onchocerciasis in the Americas and have made significant progress in some regions of Africa. But Onchocerciasis cannot be eliminated through mass drug administration of ivermectin alone—making the development of novel drug therapies, diagnostics and vaccines imperative.

Dr. Lustigman, led and co-authored the study in Nature Microbiology entitled “The Genome of Onchocerca volvulus, Agent of River Blindness.” In collaboration with medical researchers from various institutions—including the National Institutes of Health’s National Institute of Allergy and Infectious Diseases, Wellcome Trust Sanger Institute, and New York University—the study reveals the full genome of O. volvulus and its Wolbachia endosymbiont and the presence of unique genes in O. volvulus that have relatively few similarities to other parasites and may therefore have novel functions. The result is the highest-quality sequence assembly for any parasitic roundworm (nematode) to date—which will now serve as an invaluable resource for the development of new and urgently needed interventions against onchocerciasis and other filarial parasites.

In the second study, published in mBio entitled, “Stage-Specific Transcriptome and Proteome Analyses of the Filarial Parasite Onchocerca volvulus and Its Wolbachia Endosymbiont,” Dr. Lustigman and collaborators were able to comprehensively profile the stage-specific transcriptomes and proteomes of O. volvulus and its Wolbachia endosymbiont. The new datasets present novel insights into the unique biology of O. volvulus and the molecular interplay with its endosymbiont. Researchers were able to identify stage-specific pathways important to the parasite’s adaptation to its human host during its early development. Moreover, it enabled the use of an immunomic approach for the identification of novel diagnostic biomarkers of O. volvulus infection and new prophylactic or therapeutic vaccine candidates.  

“NYBC takes great pride in the developments made by our Laboratory of Molecular Parasitology and its highly-dedicated team,” said Christopher D. Hillyer, MD, President and CEO of NYBC. “Making life-saving contributions to the many people who lack access to the available resources is central to NYBC’s mission. Today, we are delighted to share two landmark milestones towards achieving our purpose.” 

“NYBC continues to innovate through its commitment to research and ultimately, to alleviating human suffering,” said Howard P. Milstein, Chairman of NYBC. “Dr. Lustigman and colleagues from renowned institutions around the world exemplify this unwavering dedication to eliminating diseases that continue to pose a threat to our global community.”