Scientific & Medical Advice

Lorem ipsum dolor sit amet, consectetur adipiscing elit. Nunc iaculis leo in sollicitudin molllis.

Scientific & Medical Advice

Lorem ipsum dolor sit amet, consectetur adipiscing elit. Nunc iaculis leo in sollicitudin molllis.

Test

Aaron’s Story Aaron has been Aaron since our 20-week anatomic ultrasound. Soon after revealing that we were having a baby boy, our obstetrician explained that Aaron’s kidneys were not growing like they should be and referred us to a perinatologist immediately. We weren’t sure what was going to happen next, but my husband and I felt…

Continue reading

Scott Galasinski

Scott Galasinski, Ph.D. Rare Disease Therapeutics DevelopmentScott Galasinski has worked in both biotech and pharma, including Head of BioPharmaceuticals Business Development at AstraZeneca, Head of Ultra-rare gene therapies at Novartis (previously Avexis), Executive Director at Ultragenyx, and group leader for many teams at Abbvie (previously Abbott labs). He earned his Ph.D. at the University of Colorado,…

Continue reading

Jordan Whitlock

Dr. Jordan Whitlock , Ph.D. Pediatric Rare DiseasesDr. Jordan Whitlock specializes in pediatric rare diseases. She obtained her doctoral degree in Genetics, Genomics, and Bioinformatics from the University of Alabama at Birmingham. Her expertise lies in generating patient-specific genomic sequencing data and employing computational biology methods to investigate tissue- and cell-type-specific mechanisms that underlie SETBP1-associated…

Continue reading

Aleksandra Blagunovski

Aleksandra Blagunovski FundraisingParenthood did not have an easy start for us. Our son Martin had difficulties breathing at birth and we were immediately separated before we could even touch or hold him, so he could receive emergency medical care. We felt very alone for days, waiting for an update on Martin from the hospital, and…

Continue reading

Carina Olsen

Carina Olsen Social MediaOn February the 2nd 2018 Kasper and I became parents for the very first time. A beautiful little girl, Emma, with a lot of hair. When Emma was 3 months she was diagnosed with Schinzel-Giedion Syndrome. We had no idea what that meant for Emma and for us. The doctors could not…

Continue reading

Emma Hudson

Emma Hudson SecretaryMy husband and I are parents to Fraser and Jude. We live near Wakefield in Yorkshire, England. Jude was born in 2018 and diagnosed with Schinzel-Giedion Syndrome shortly after birth following the onset of seizures and the appearance of a malignant sacral tumour. Jude passed away in March 2022 at the age of…

Continue reading

Newsletter Signup

Sign-up to receive family stories and updates on our research projects and fundraising campaigns.

Scroll to Top