Location :  SAlamander middleburg, Virginia

November 19 - 20, 2023

GRIDS 2023: From Asymptomatic to Severe, the Variability in Lysosomal Storage Disorders: Integrating the Basics with Current Clinical Practices.

Biomarkers and other genetic approaches in LSD

11:30 - 11:50 Novel diagnostic techniques in Lysosomal Disorders using glycomic profiling with mass spectrometry - Gustavo H. B. Maegawa, MD,  Univ of Columbia, NY, USA 

11:50 - 12:10 RNA based therapies for Lysosomal Storage Disorders (LSDs) - Andrea Dardis , Ph.D.,  Centre for Rare Diseases, Udine, Italy VIRTUAL

12:10 - 12:30 Misfolding of acid sphingomyelinase, associated with Niemann-Pick A/B, as a risk factor for the development of Parkinson disease - Mia Horowitz , Ph.D., Tel Aviv University, Tel Aviv, Israel

12:30 - 12:50 Q&A

12:50 - 13:50 LUNCH

Current Clinical Challenges in Lysosomal Disorders: Newborn screening and LSD in the neonatal period

14:00 - 14:20 Newborn Screening in Lysosomal Disorders from RUSP to Reality - Can Ficicioglu, MD, Ph.D., CHOP, Philadelphia, USA

14:20 - 14:40 Use of biochemical and genetic methods in Newborn Screening programs - Orna Staretz-Chacham, MD, Soroka Medical Centre Beersheva , Israel       VIRTUAL

14:40 - 15:00 Diversity and equity in Newborn Screening programs for family engagement and access to expert care - Debra Regier, MD, CNMC, Washington DC, USA

15:00 - 15:20 Current guidelines for the management of asymptomatic infants with Pompe disease diagnosed in neonatal period - David Kronn, MD, Univ of Valhalla,  New York, USA

15:20 - 15:40 Q&A

15:40 - 15:50 Coffee Break

The Application of Novel Technologies in LSD: Role of AI in Lysosomal Disorders Big data to Artificial intelligence and challenges:

15:50 - 16:10 The experience from the Spanish registries for predicting the complications in Gaucher disease - Pilar Giraldo, MD, Miguel Servet University Hospital, Zaragoza, Spain

16:10 - 16:30 Development of an advanced machine learning algorithm for early diagnosis of Gaucher disease - Shoshana Ravel-Vik, MD, ISZMC, Jerusalem, Israel

16:30 - 16:50 A new approach to identifying patients with Fabry disease using a machine learning algorithm - John L. Jeffries, MD, Univ of Tennessee, USA            VIRTUAL   

16:50 - 17:10 Q&A

17:10 - 17:15 Closing - Ozlem Goker-Alpan, MD

18:30 DINNER

Monday, November 20th, 2023

Next-generation therapies in LSDs

09:30 - 09:50 Developing therapies for diseases caused by the deficiencies of lysosomal sialidases (sialidosis, galactosialidosis) and N-acetyltransferases (mucopolysaccharidosis IIIC) - Alexey Pshezhetsky, Ph.D., McGill Univ . Canada

09:50 - 10:10 Delivering CRISPR to the brain - A new treatment strategy for Mucopolysaccharidoses - Guilherme Baldo. Ph.D., Hospital de Clinicas de Porto Alegre, Brazil

10:10 - 10:30 Small molecule therapies for primary and secondary sphingolipidosis - Caroline Hastings, MD , UCSF, California, USA

10:30 - 10:50 Q&A

Current Challenges in Lysosomal Disorders

10:50 - 11:10 Who is the candidate for Gene Therapy: Disease severity and phenotypes as determinants of therapeutic efficacy - Aimee Donald, Ph.D.,  Univ of Manchester, UK

11:10 - 11:30 Intrathecal vs. Trojan Horse approach in treating neuronopathis LSDs - Joseph Muenzer, MD, Ph.D., UNC, North Carolina, USA

11:30 - 11:50 The timing of initiation of ERT and disease outcomes for patients with MPS - Elizabeth R Jalazo, MD, UNC, North Carolina, USA

11:50 – 12:10 Egyptian GD 3 patients: A unique cohort typical and atypical presentations -Magy AbdelWahab, MD, Cairo University Pediatric Hospital, Cairo, Egypt VIRTUAL

12:10 - 12:30 Q&A

12:30 - 12:40 Closing - Ozlem Goker-Alpan, MD

12:45 - 13:30 Lunch box and depart