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Great resource for Gaucher monitoring in the era of newborn screening from your lysosomal team ⁦⁦Lurie Children's⁩ Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease sciencedirect.com/science/articl…

Amazing organization and lots of advancement! ⁦Ras team present ⁦Lurie Children's⁩ 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy onlinelibrary.wiley.com/doi/10.1002/aj…

sciencedirect.com/science/articl… Free access for 50 days to our work!

1 Pepperoni = 1 publication = 1 whole pizza - get ready for quite a pizza party this coming October 2024 genetics division ⁦Lurie Children's⁩

Amazing work by the excellent team of Harry Pachajoa

The new era of genetics, genomics and metabolism Lurie Children's happy 2024!

Undiagnosed Disease team Lurie Children's going to new heights UDN

I had a lot of fun in Dominican Republic teaching genetics to a large group of pediatricians! It is also 10 years of working with rare disease children in DR with my friend Dr. Mena and the Fundacion Maria Laura! Lurie Children's

Very inspirational time with the SKS foundation patients, families, medical scientific board and speakers this past weekend in Chicago Lurie Children's Smith-Kingsmore Syndrome Foundation - thank you for letting us be part of your journey!

Setting International Standards for Diagnosing Pediatric Sepsis news.feinberg.northwestern.edu/2024/04/18/set… - amazing work L. Nelson Sanchez-Pinto, MD, MBI

Raising awareness in Amsterdam ⁦Smith-Kingsmore Syndrome Foundation⁩

Very exciting week at Lurie Genetics! A new metabolic physician and our first genetics resident trainee starting today! Also, the cubs won yesterday! Lurie Children's

Thrivewell Infusion The session "Harnessing Cross-Border Data for Breakthroughs in Early Diagnostics & Genetic Insights" is now underway at #NARDS. This panel highlights the importance of international collaboration in advancing early diagnostics and genetic research for rare diseases.

Great panels and discussions today at the North America Rare Disease Summit in Chicago #NARDS Bamberg Health Lurie Children's

Please donate to this wonderful organization Smith-Kingsmore Syndrome Foundation - I will be donating every month I go without a car (hope this winter is mild in Chicago) Lurie Children's

Another month pass biking (first 100 miles) for Smith-Kingsmore Syndrome Foundation in beautiful Chicago!

Continue biking for SKS! Smith-Kingsmore Syndrome Foundation

Three generations of Prada’s farmers :)

Honored to support patients and families on their genetic health journeys. Committed to enhancing access to genetic services for all. Grateful for the collaboration with JAMA Lurie Children's , and Northwestern Feinberg School of Medicine