Understanding the science behind Schaaf-Yang Syndrome (SYS) can feel overwhelming—but you don’t need to be a scientist to make sense of it. Here’s a clear, family-friendly glossary of key terms you may encounter when learning about SYS, research, or your loved one’s care.
A
Antisense Oligonucleotide (ASO) – A therapy designed to block faulty genes.
Example: Scientists are exploring ASOs to reduce the harmful effects of MAGEL2 mutations in SYS.
B
Bench-to-Bedside – Turning discoveries made in the lab (“bench”) into treatments or care strategies for patients (“bedside”). Also known as translation.
Example: Discovering how MAGEL2 works in the lab can lead to therapies that help children with SYS.
C
Chromosome 15q11-13 – The specific location on chromosome 15 where the MAGEL2 gene is found.
Example: Mutations in this region are linked to SYS.
CRISPR – A gene-editing tool that can modify DNA.
Example: Researchers hope CRISPR could one day correct MAGEL2 mutations in SYS.
G
Genetic Mutation / Mutated – A change in a gene that can cause a condition like SYS.
Example: A mutated MAGEL2 gene can lead to SYS.
H
Hyperphagia – An unusually strong appetite or excessive eating.
Example: This symptom is sometimes seen in conditions related to PWS.
Hypotonia – Low muscle tone that can make muscles floppy and affect movement.
Example: Many babies with SYS are born with hypotonia, which may impact feeding and posture.
J
Joint Contractures – Stiff joints that have limited movement.
Example: Some children with SYS experience joint contractures, which can be managed with therapy.
M
MAGEL2 Gene – The gene associated with SYS. Mutations in MAGEL2 affect brain and body development.
Example: Understanding MAGEL2 helps researchers develop treatments.
Maternal/Paternal Copy – Everyone has two copies of most genes, one from each parent.
Example: SYS mutations occur on the paternal copy of MAGEL2.
Protein – Molecules made by genes that perform many important jobs in the body.
Example: A mutation in MAGEL2 can create a truncated protein that doesn’t work properly.
N
Neurodevelopment – The way the brain and nervous system grow and develop, shaping movement, learning, and behavior.
Example: SYS affects neurodevelopment, contributing to challenges with motor skills, speech, and social interaction.
Neurons – Brain cells that send messages controlling movement, learning, and emotions.
Example: Many SYS symptoms relate to neuron communication.
O
Oxytocin – A hormone that affects social bonding, feeding, and behavior.
Example: Researchers are studying whether oxytocin given in infancy could improve some SYS symptoms.
P
Postnatal – After birth.
Example: Some therapies, like oxytocin, are being studied for postnatal use.
R
Registry (SYS Registry) – A secure online platform where families share medical and daily life information to help researchers study SYS.
Example: Participating in the Registry helps track symptoms and therapies in real time.
S
Severity Score (SYS Severity Score) – A measure developed from family input to track which symptoms affect quality of life most.
Example: Families helped define the symptoms that matter most for this score.
SnoRNAs (Small Nucleolar RNAs) – Molecules in cells that can help control the activity of certain genes.
Example: Researchers are studying the snoRNAs that regulate MAGEL2 levels in the body.
T
Truncated – A protein that is cut short due to a genetic mutation, often making it nonfunctional.
Example: SYS mutations can create truncated MAGEL2 proteins that disrupt brain function.
V
VYKAT – A therapy approved for PWS-related conditions, now tracked in the Registry to understand real-world use.
Example: Families contribute information about VYKAT to help researchers understand its impact.
W
Whole Exome Sequencing – A genetic test that looks at parts of genes that contain instructions for building proteins.
Example: Many SYS mutations are identified through whole exome sequencing.
Tip for Families: You don’t need to memorize all the terms! Use this glossary as a reference whenever you read about SYS or participate in research. Each term connects to the bigger story of how your family’s experiences help drive discoveries, improve care, and bring hope for new treatments. And remember, you can always reach out to FPWR if you’d like clarification on any medical or scientific information. We’re here to help!
