Software helps ID hard-to-interpret Alagille-causing gene mutations
Software tools may help predict whether certain hard-to-interpret mutations in the JAG1 gene affect splicing, a process that can direct how a protein is produced,…
Software tools may help predict whether certain hard-to-interpret mutations in the JAG1 gene affect splicing, a process that can direct how a protein is produced,…
Before my son Finley was born, I had minimal exposure to the rare disease world. I knew about the more publicized conditions and had participated…
I feel fortunate that our 3-year-old son, Finley, has been at the same day care since he was an infant. Our older son, Jackson, bounced…
Alterations to the immune system may underlie the mild liver scarring, or fibrosis, that characterizes Alagille syndrome despite severe liver disease, according to a…
I don’t exactly love any of the symptoms my son Finley experiences because of Alagille syndrome, but the dreaded itch wears on me…
Ipsen’s Kayfanda (odevixibat) has been approved, under exceptional circumstances, in the European Union (EU) to treat cholestatic pruritus in people with Alagille syndrome,…
Looking back at our son Finley’s Alagille syndrome diagnosis at just a couple months of age, I appreciate that we were fortunate to start…
Even though my son Finley is still in day care, we enjoy the back-to-school shopping phase. He may not be starting a new grade, but…
Researchers in Italy have identified 10 new mutations in the NOTCH2 gene, which has been linked to Alagille syndrome, in nine children and one…
I’ve shared that nutrition plays a major role in the life of my 3-year-old son, Finley, who was born with Alagille syndrome. Because…