Researching Hope for ALG13-CDG
Current Research
Drug Repurposing Project with Perlara
The ALG13-CDG Drug Repurposing Project with Perlara has officially launched. The first phase of the project included the Avatar Characterization & Assay Optimization. The goal of the first phase was to establish a screenable phenotype- a robust and reproducible growth defect. This phenotype serves as a baseline for the screen. During this phase they assessed the growth of ALG13 yeast compared to healthy yeast; ALG13 yeast grew much slower. They determine the conditions that showed the biggest growth difference in a luminescent-based growth assay – temperature and growth time. Lastly, they optimized these growth conditions in screening plates. Once they completed the first phase they rolled right into phase two, Drug Repurposing Screen. The yeast drug repurposing screen for ALG13 was a success. They identified promising hits (compounds that improved yeast growth). The top hits align with what is know from ALG13 biology and brain organoid models, which makes the findings especially encouraging. The next step is to confirm the results through a follow-up dose response validation assay in yeast. This will allow them to confirm the screen results and narrow down the most promising repurposing candidates with confidence before moving toward further validation in ALG13 brain organoids or patient studies.
Our Mission
To raise money to participate in research opportunities that advance science in the CDG community and focus on finding a cure for ALG13-CDG.
Our Team
We have partnered with the nonprofit organization CDG Care to help raise money for scientific research for ALG13-CDG.
Research Grant
NIH Awards $5.4 Million to Multi-Institutional Consortium
to Investigate Neurological Symptoms in CDG
We are thrilled to share that a consortium of five research institutions, centered at the Icahn School of Medicine
at Mount Sinai, has been awarded a prestigious NIH Program Project Grant (P01) from the National Institute of
Neurological Disorders and Stroke (NINDS) titled “Investigation of Neural Pathogenic Mechanisms Associated
with Congenital Disorders of Glycosylation.” This five-year, $5.4 million initiative will focus on investigating how
the glycosylation defects in different CDGs impacts the cells in the brain and central nervous system— a
question of critical importance as nearly all CDG patients have some neurological symptoms but we still don’t
fully understand the reasons why these symptoms develop. This gap in our understanding is delaying the
identification and testing of new therapies.
This new NIH-funded program aims to fill that gap by taking advantage of the experimental strengths of three
different model systems – zebrafish, fruit flies and brain organoids or “mini-brains” that can be grown in the lab.
The Program consists of three highly integrated Research Projects that will use these different model systems
to make discoveries that will then be shared with the other groups. This sharing of information will greatly
accelerate the research. This cross-talk and integration is a key aspect of the P01 Program Project grant.
The effort is led by two Principal Investigators, Dr. Eva Morava-Kozicz at Icahn School of Medicine at Mount
Sinai and Dr. Richard Steet at the Greenwood Genetic Center (GGC), who bring combined strength in clinical
and basic science aspects of CDG. The Multi-omics Core of the Program, led by Dr. Akhilesh Pandey at the
Mayo Clinic, will bring state-of-the-art technologies like glycomics, glycoproteomics, and metabolomics to the
team, supporting each Research Project.
The three integrated Research Projects capitalize of the strengths of different model systems and the unique
research expertise of the investigators:
Research Project 1, led by Dr. Heather Flanagan-Steet at GGC, will use zebrafish models of PMM2-
CDG and PIGA-CDG to examine how glycosylation defects affect different cell types during brain
development.
Research Project 2, led by Dr. Clement Chow at the University of Utah School of Medicine, will utilize
Drosophila (fruit flies) models to explore different mutations and cell types drive neurological disease in
CDG. His work also aims to uncover how genetic background may alter disease progression.
Research Project 3, co-led by Dr. Tamas Kozicz at Mount Sinai and Dr. Steven Sloan at Emory
University, will apply human brain organoid models of PMM2-CDG and ALG13-CDG to investigate how
altered glycosylation and metabolism disrupt the circuits that transmit signals in the brain.
This collaborative and exciting research program brings together a powerhouse team of seven investigators
from five leading institutions, combining basic science, clinical expertise, and a broad collection of model
systems to accelerate our understanding of why the brain and central nervous system are so affected in CDG.
The investigators envision that discoveries made in the initial CDGs that will be studied here will inform our
understanding of multiple related CDGs and may open up opportunities to explore common modes of
treatment.
ALG13-CDG Resources
Specialized Medical Care
Dr. Eva Morava, Department of Genetics and Genomic Sciences, Division of Medical Genetics and Genomics at Mt. Sinai
Research Opportunities
Basic Information
Our Community
ALG13-CDG Walk & Roll for Scientific Research
For the entire month of October 2025 as a community we will be walking, biking, and strolling to raise awareness and donations for ALG13-CDG Research. Join us in October in your community by getting outside in your neighborhood, on the trail, or where ever you enjoy walking, biking, and strolling for ALG13-CDG Scientific Research.
PKT Hero (Precision Ketogenic Therapy)
Ten year old Siena controls her seizures with only the ketogenic diet.
CDG Hero
In June 2025 CDG Care announced sweet Rayleeigh, age 2, from the USA, who lives with ALG13-CDG, as their CDG Hero of the month.
Leah - ALG13 CDG Hero
Leah has given science more than science could ever give her.
Siena
Her fight and joy for life has given hope to many ALG13-CDG families.
ALG13-CDG News
Saving Siena
Susan Smiley - Height from Ocala Style Magazine helps educate the local community about ALG13-CDG and promote fundraising for ALG13-CDG scientific research.
Glycosylation, CDGs & Role of Sugars Beyond Energy Production
Dr Eva Morava talking in depth about Glycosylation and Congenital Disorders of Glycosylation.
Support CDG & Other Rare Diseases
May 16th is World CDG Awareness Day!
Please join in our efforts to raise CDG Awareness in your Community!
Update to Saving Siena
Ocala gazette has repubished Ocala Style Magazine's "Saving Siena" to include recent updates to fundraiser and research.