2024 International Lowe Syndrome Symposium


October 29, 2024
10:00 AM


October 30, 2024
5:00 PM

Purdue University


The International Lowe Syndrome Symposium is being planned to take place at Purdue University in October 2024. The primary objective of this symposium is to convene an interdisciplinary and international community, including scientists, medical professionals, clinicians, Lowe Syndrome patients, their families, and relevant organizations. This collaborative platform aims to advance research, increase awareness, and improve clinical outcomes related to Lowe Syndrome. This symposium is organized by R. Claudio Aguilar from Purdue University's Department of Biological Sciences, in collaboration with Thomas G Sors, the Director of Scientific Strategy and Relations of the Purdue Institute of Inflammation, Immunology and Infectious Disease.  Partnering with the Lowe Syndrome Association, the Lowe Syndrome Trust, Purdue Institute for Integrative Neuroscience, Institute for Drug Discovery and Institute of Inflammation, Immunology and Infectious Disease, reflects our collective determination to improve the lives of those affected by this rare genetic disorder and bring about broad awareness for sustained improvements in clinical outcomes.
Overview: The International Lowe Syndrome Symposium is designed to unite an interdisciplinary community of global scientists, medical professionals, clinicians, Lowe Syndrome patients, their families, and relevant organizations. Our primary goal is to establish a collaborative platform that advances research, awareness, and clinical outcomes related to Lowe Syndrome. 


  1. Scientific Collaboration and Exploration: This symposium will serve as a hub for the exchange of technical knowledge and insights among international researchers, clinicians, and medical professionals. It will provide a platform for in-depth discussions on Lowe Syndrome's etiology, clinical manifestations, and potential therapeutic interventions.
  2. Diverse Representation: We are committed to promoting diversity, equity, and inclusion (DEI) throughout the symposium. We aim to engage individuals with diverse backgrounds, underrepresented groups, and clinicians from various specialties to enrich discussions and perspectives on Lowe Syndrome.
  3. Awareness and Education: By actively involving Lowe Syndrome patients, families, and patient advocacy groups such as the Lowe Syndrome Association, we intend to raise awareness of the disease. Educational sessions will address research findings in lay person terms, management strategies, and avenues for patient support.
  4. Clinician-Researcher Collaboration: The symposium will create a unique opportunity for clinicians and researchers to establish and strengthen collaborations. We aspire to bridge the gap between scientific discoveries and clinical applications, ultimately enhancing patient care.
  5. Support for Early Career Investigators: To nurture the next generation of researchers and clinicians, we will primarily use the R13 funding to support "Bring a Junior Colleague" awards. This initiative will foster knowledge transfer and community building between experienced professionals and early career investigators.

Activities and Programming: The symposium will span two days and include keynote presentations, plenary sessions, workshops, panel discussions, and poster sessions. Topics will encompass genetic variants, disease mechanisms, potential therapies, patient care, and improving the quality of life for Lowe Syndrome patients. In line with the NIH's emphasis on well-being, we will incorporate wellness-oriented programming, including mindfulness sessions, physical activities, and discussions on work-life balance.

Confirmed Speakers: We've successfully secured the participation of esteemed leaders in the field. Some of our confirmed speakers include:

Dr. Robert Nussbaum, currently serving as the Chief Medical Officer at Invitae, is a prominent figure in the field. Among his numerous accomplishments, he is renowned for identifying the OCRL1 gene mutation responsible for Lowe syndrome, establishing him as a leader in our research community.

Drs. Antonella DeMatteis from the University of Naples "Federico II," Italy, and Jennifer Gallop from the University of Cambridge, UK, are both exceptional scientists. Dr. DeMatteis is leading pioneering work on drug repurposing for Lowe syndrome and is initiating the first clinical trial for this condition. Dr. Gallop's research is also instrumental, particularly in revealing genetic modifiers that impact patient outcomes.

Dr. Raghu Padinjat from the National Centre for Biological Sciences in Bangalore, India, is contributing valuable insights into the intricate genetic factors that influence Lowe syndrome.

Dr. Eileen Brewer, a professor of pediatrics and an expert in renal services, specializes in Lowe syndrome. She is an advisor to the Lowe Syndrome Association and will not only share her research findings but also play a pivotal role in consolidating a network of clinicians dedicated to Lowe syndrome. This network will facilitate knowledge exchange regarding clinical manifestations, treatment strategies, and patient recruitment for forthcoming clinical trials.

Moreover, we have planned a satellite workshop focusing on vesicle trafficking and signaling. This area has emerged as pivotal in understanding Lowe syndrome. Importantly, this half-day event will be organized by graduate students under the guidance of Dr. Aguilar. It not only provides an educational opportunity but also allows these students to gain leadership experience. Furthermore, students will host a group of highly esteemed scientists in the field, fostering networking opportunities. It's worth mentioning that the Aguilar lab has successfully hosted similar one-day symposia in the past, further demonstrating our commitment to advancing the field.

With these accomplished speakers, workshops, and networking opportunities, we are confident that the Lowe Syndrome International Conference will be a significant step toward advancing our understanding of Lowe syndrome and fostering collaboration within the research community.

For more information contact:
Claudio Aguilar - claudio@purdue.edu
Tommy Sors - tsors@purdue.edu

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