Want to create interactive content? It’s easy in Genially!

Get started free

BIO 462 Final Draft Sanfilippo Syndrome

kate jaggi

Created on March 7, 2023

Kate Jaggi

Start designing with a free template

Discover more than 1500 professional designs like these:

Smart Presentation

Practical Presentation

Essential Presentation

Akihabara Presentation

Colorful Presentation

Modular Structure Presentation

Chromatic Presentation

Explore all templates

Transcript

Sanfilippo Syndrome

Mucopolysaccharidosis Type 3A (MPS3A)

Kate Jaggi

"Childhood Alzheimers"

Abby Grace Foundation

Summary

  • Autosomal recessive
  • Lysosomal storage disease
  • SGSH gene (chromosome 17q25)
  • Missing or defective N-heparin N sulfatase enzyme
  • 1 in 70,000 births

Childhood Alzheimers"

Summary

  • Autosomal recessive
  • Lysosomal storage disease
  • SGSH gene (chromosome 17q25)
  • Missing or defective N-heparin N sulfatase enzyme
  • 1 in 70,000 births
  • Progressive dementia
  • Hyperactive & aggressive behavior
  • Degenerative physical systems
  • Visceromegaly (large organs)
  • Respiratory infections (leading cause of death)
    • Life expectancy of 10-20 years

SYMPTOMS

Stages of Sanfilippo Syndrome

Stages of Sanfilippo Syndrome

ONSET OF CLINICAL FEATURES

  • 2-6 years
  • Early mental & motor delays
  • Loss of language
  • Difficult to diagnose
  • Autism similarity

Stages of Sanfilippo Syndrome

ONSET OF CLINICAL FEATURES

NEUROLOGICAL DEGENERATION

  • 2-6 years
  • Early mental & motor delays
  • Loss of language
  • Difficult to diagnose
  • Autism similarity
  • 5-10 years
  • Aggressive & hyperactive behavior
  • Irregular sleep
  • Seizures
  • Chewing
  • Significant dementia

Stages of Sanfilippo Syndrome

ONSET OF CLINICAL FEATURES

NEUROLOGICAL DEGENERATION

PALLIATIVE CARE & DEATH

  • 2-6 years
  • Early mental & motor delays
  • Loss of language
  • Difficult to diagnose
  • Autism similarity
  • 10-20 years
  • Loss of motor skills (walking, talking, feeding)
  • Growing stops
  • Nonverbal
  • Palliative care
  • 5-10 years
  • Aggressive & hyperactive behavior
  • Irregular sleep
  • Seizures
  • Chewing
  • Significant dementia

Children with Sanfilippo Syndrome

HAIDYN

LOGAN

OLIVIA

Haidyn, Logan, and Lev are children with Sanfilippo syndrome whose families advocate publicly to educate & raise funds for the treatment of MPS3A

Potential Future Therapies

Provide correct form of heparin N sulfatase

Potential Future Therapies

Get rid of heparin sulfate sugar

Introduce good copies of theSGSH gene

Potential Future Therapies

Correct misfolding in heparin N sulfatase

Potential Future Therapies

Regenerate & make correct heparin N sulfatase

Potential Future Therapies

Introduce good copies of the SGSH gene

Introduce good copies of the SGSH gene

Clinical Trials

  • Early clinical trial results (Feb. 2023):
    • Sustained engraftment of SGSH gene-corrected cells
    • Higher levels of heparin N sulfatase enzyme activity
    • Children (6-24 months) gaining skills

"These are encouraging results for children living with MPS-IIIA and their families, who currently have no effective treatment options."

Resources

  • https://www.mdpi.com/1422-0067/21/21/7819
  • https://kidshealth.org/en/parents/sanfilippo-syndrome.html#:~:text=Sanfilippo%20Syndrome%20Treated%3F-,There%20is%20no%20cure%20yet%20for%20Sanfilippo%20syndrome.,could%20be%20on%20the%20way.
  • https://www.sanfilippo.org.au/blog/development-of-gene-therapies-for-sanfilippo#:~:text=Sanfilippo%20involves%20changes%20to%20one,being%20explored%2C%20including%20gene%20therapy.
  • https://www.manchester.ac.uk/discover/news/early-results-of-gene-therapy-trial-for-childhood-dementia-show-promise/

Thank You