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Since 2019, the INADcure Foundation has collaborated with Dr. Hugo Bellen and Dr. Guang Lin at the Bellen Lab, located within Baylor College of Medicine. This partnership has been pivotal in advancing our understanding of INAD. Through grant-funded research, considerable strides have been made in unraveling the molecular function and underlying mechanisms of this disease. Their investigations have explored potential therapeutic strategies, including modulating retromer, sphingolipid, and endolysosomal pathways in fibroblasts of INAD patients and developing AAV-based gene therapy approaches for INAD in mice models. These efforts resulted in a 2023 publication titled “Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14),” making their findings and insights accessible to the wider scientific community and underscoring the importance of this collaborative work in the ongoing effort to find a cure for INAD.

Photo of Hugo Bellen, DVM, PH.D. Professor Baylor College of Medicine/Neurological Research Institute

Hugo Bellen, DVM, PH.D.

Baylor College of Medicine/Neurological Research Institute

LET’S MEET: Dr. Bellen

Tell us a little bit about yourself.
I study rare disease mechanisms and try to implement the findings in common diseases.

Why did you choose your career?
Because I love doing science and helping patients.

When did you first decide you wanted to work with rare diseases? Please share what led to that decision.
2014: A paper in Cell using Drosophila to discover new genes (Shinya Yamamoto et al., 2014) led to the discovery of new human rare diseases.

Tell us a little about any current/previous work with other rare diseases. For example, have you ever been a part of a team that has worked on gene therapy/other drug development initiatives before, or has brought a potential treatment to a clinical trial? What has been one of your most rewarding experiences?
Using Drosophila to facilitate the diagnoses of rare human diseases is an area of research that has developed rapidly in the past 10 years. Technical developments in sequencing human genomes using whole exome (WES) or whole genome sequencing (WGS) have completely changed the landscape of human genetics. It is estimated that there are approximately 30 million people in the US and 400 million worldwide with a rare disease. Many of these patients undergo a diagnostic odyssey and remain undiagnosed for many years. By sequencing their genomes and those of their relatives, we can now discover genetic variations that are rare or ultra-rare. However, considering that there are many polymorphisms in the population, assessing which variant(s) is/are related to the observed symptoms remains a significant challenge. This is precisely where model organisms can contribute and Drosophila is now playing a prominent, strategic role.

The NIH launched the Undiagnosed Diseases Network (UDN) to solicit patients with undiagnosed diseases and try to determine their cause, which are typically genetic in origin. The patients who are enrolled are the most challenging cases in medicine. Twelve clinical sites, a sequencing center, a metabolomics core, and two Model Organisms Screening Centers (MOSC) are supported by the UDN to develop a diagnosis for as many of these patients as possible. To date, over 3,000 patients have applied, about 50% have been accepted, and about 30% of the accepted patients have been diagnosed by combining clinical phenotyping, WES or WGS of the proband and 2-3 members of the family, and performing functional studies in worms, flies, or zebrafish. The MOSC Drosophila Core has played a prominent role in this venture and has provided critical data for more than 40 human genetic diseases. We have also collaborated with the Centers for Mendelian Genomics to assess variant function using Drosophila and facilitate the discovery of new human disease-causing genes.

Why did you choose to work with the INADcure Foundation?
Because we wanted to figure out the molecular mechanisms underlying INAD.

What recent breakthroughs have gotten you most excited for the future of rare disease?
The development of technologies in flies that allow us to humanize flies.

What is your favorite part of the work you do?
Mentoring students and postdoctoral fellows to solve neurological-related diseases using the flies.

What do you do to relax (or have fun)?

If you could have a lifetime supply of anything, what would it be?
Unlimited funding to do research.

Last (or Best) book read?

If you could have one superpower, what would it be?
Cure rare and common diseases.

Help us on our mission of finding a cure for INAD/PLAN.