NextGen 2024: Genetics in SJIA Session Part 2

NextGen 2024: Genetics in SJIA Session Part 2

@SJIA_Foundation

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Science #sjiafoundation #sjia #curesjia #genetics

NextGen 2024: Genetics in SJIA Session Part 2

@SJIA_Foundation2 weeks ago

Recent discoveries in
genomics of sJIA
Mariana Correia Marques, MD
Lawrence Shulman Scholar in …

1/19

Disclosures
•None

2/19

What insights can we gain from genetics?
Disease
development
Disease
prognosis
Treatment
r…

3/19

Impact on genetics on the risk of
developing disease
Rare
variants
High impact
Common
vari…

4/19

Impact on genetics on the risk of
developing disease
Rare
variants
High impact
Common
vari…

5/19

Common variants – Candidate Gene Studies
Marques, Ombrello, Schulert, 2024, Expert Rev. Clin. Immu…

6/19

Common variants - GWAS
Ombrello et al, 2015, PNAS
Ombrello et al, 2017, ARD
Arthur et al, 2018, …

7/19

Impact on genetics on the risk of
developing disease
Rare
variants
High impact
Common
vari…

8/19

Rare / Low frequency variants
Marques et al, 2024, A&R
• Rare/ultra-rare variants in HLH genes
…

9/19

Impact on genetics on the risk of
developing disease
Rare
variants
High impact
Common
vari…

10/19

Manki et al, 2006, Allergol Int
Alansari et al, 2023, J Rheum Dis
• 12 girls 1 boy who met ILAR c…

11/19

What insights can we gain from genetics?
Disease
development
Disease
prognosis
Treatment
r…

12/19

Treatment response
IL1RN promoter
SNPs
IL1RA IL1RA
risk of sJIA response to anakinra

13/19

Treatment response
IL1RN promoter
SNPs
IL1RA IL1RA
risk of sJIA response to anakinra

14/19

Treatment response
IL1RN promoter
SNPs
IL1RA IL1RA
risk of sJIA response to anakinra

15/19

Treatment response
IL1RN promoter
SNPs
IL1RA IL1RA
risk of sJIA response to anakinra

16/19

What insights can we gain from genetics?
Disease
development
Disease
prognosis
Treatment
r…

17/19

Disease prognosis
HLH variants
associated with risk of
MAS
HLA-DRB1*15
associated with lung…

18/19

The NIAMS Still’s Disease Team
Dale Kobrin, MD
Rheumatology Fellow
Ly-Lan Bergeron, PA
Physicia…

19/19

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NextGen 2024: Genetics in SJIA Session Part 2

@SJIA_Foundation

Presentation from Dr. Mariana Marques: Recent discovery in genomics of SJIA

Science

#sjiafoundation #sjia #curesjia #genetics

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