Global Experts Advancing Bardet-Biedl Syndrome Research

Global Experts Advancing Bardet-Biedl Syndrome Research

Meet the Scientists and Physicians Pushing the Boundaries of Understanding Bardet-Biedl Syndrome

Bardet-Biedl Syndrome (BBS) is a rare and complex genetic disorder that affects many systems in the body, including vision, kidneys, weight regulation, and learning. Fortunately, a growing global network of researchers and clinicians are working tirelessly to improve diagnosis, treatment, and quality of life for those living with BBS. Below is a  list of experts who have contributed significantly to BBS research and care.  This is not an all-inclusive list, but a great starting point to list out all the amazing researchers working on BBS:

Experts in Bardet-Biedl Syndrome

• Professor Philip L. Beales, MD – UK Director of the Cilia Disorders Laboratory at University College London and a pioneer in identifying BBS-related genes. Founder of the UK's multidisciplinary BBS clinics.
• Dr. Elizabeth Forsythe, PhD – UK Clinical researcher and collaborator with Prof. Beales, focused on patient-centered outcomes and clinical care strategies for BBS.
• Dr. Helen May-Simera, PhD – UK Specializes in the study of cilia biology, helping to uncover how BBS mutations affect cellular structure and development.
• Dr. Jesse R. Richards, DO – Oklahoma, USA Obesity medicine specialist involved in clinical trials using MC4R and GLP-1 agonists for obesity treatment in BBS patients. Director at OU Health.
• Dr. Arlene V. Drack, MD – Iowa, USA Pediatric ophthalmic geneticist developing gene therapies for inherited retinal diseases, including BBS10. Based at the University of Iowa.
• Dr. Martha Neuringer, PhD – Oregon, USA Neuroscientist at OHSU working with nonhuman primate models of BBS to understand retinal degeneration and test potential treatments.
• Dr. Erica E. Davis, PhD – Illinois, USA Geneticist at Northwestern University contributing to rare disease gene discovery platforms and the genetics of pediatric ciliopathies including BBS.
• Dr. Jeremy Pomeroy, PhD – Wisconsin, USA Researcher at Marshfield Clinic’s Center of Excellence for BBS, studying the impact of physical activity, obesity, and sleep in individuals with BBS.
• Professor Jean-Louis Mandel, MD, PhD – France International leader in human genetics and gene discovery, with significant contributions to intellectual disability and BBS research.
• Dr. Ohad Birk, MD, PhD – Israel Discovered multiple BBS-related gene mutations in Middle Eastern populations. Expert in rare autosomal recessive disorders.
• Dr. Susan J. Moore, MD – Canada Led a 22-year longitudinal study of BBS patients in Newfoundland, significantly shaping understanding of the syndrome’s clinical progression.
• Dr. Haws, MD – Wisconsin, USA Retired nephrologist involved in BBS patient care and co-director of early research programs through Marshfield Clinic.
• Dr. Nicholas Katsanis, PhD – USA Known for discovering several BBS genes and defining their molecular pathways; foundational figure in BBS genetics research.
• Dr. Anne M. Slavotinek, MD, PhD – USA Geneticist with publications on MKKS gene mutations and their relationship to BBS subtypes.
• Dr. Ada Hamosh, MD, MPH – USA Developer of the OMIM database and contributor to the clinical classification of rare disorders including BBS.
• Dr. Nara Sobreira, MD, PhD – USA Champion of collaborative gene discovery through platforms like GeneMatcher, accelerating rare disease identification including BBS.
• Dr. Fowzan Alkuraya, MD – Saudi Arabia Identified numerous novel disease genes in consanguineous families, including those involved in ciliopathies like BBS.
• Dr. Jennifer Posey, MD, PhD – USA Researcher at Baylor College of Medicine with expertise in novel disease gene discovery and clinical genomics of BBS.
• Dr. David Adams, PhD – USA NIH scientist working in the Undiagnosed Diseases Program. His research includes BBS-related genetic identification through exome sequencing.
• Dr. Valérie Cormier-Daire, MD, PhD – France Expert in skeletal ciliopathies with overlap into syndromes like BBS; has developed diagnostic protocols for multisystem disorders.

Collaborative Research Efforts

In addition to these individual experts, collaborative initiatives like the European BBS Clinical Consensus Panel and institutions such as the Marshfield Clinic Research Institute and NIH Rare Disease Centers are building registries, developing treatment guidelines, and supporting international clinical trials.

Why This Work Matters

As a rare disease, BBS depends on the dedication of researchers and clinicians who are willing to dive deep into its genetic complexity. Their work not only improves outcomes for BBS patients—it also leads to insights into other syndromic and ciliopathic conditions that share overlapping pathways.

Join the Movement

At A Race Against Blindness, we proudly support the global community of experts working to uncover the mysteries of Bardet-Biedl Syndrome. Help us raise awareness, fund critical research, and build a future where rare no longer means forgotten.