Archive for pten hamartoma tumor syndrome
Exploring autism by way of three rare genetic disorders
Rajna Filip-Dhima, MS is a senior project manager for the Translational Neuroscience Center at Boston Children’s Hospital and for the Developmental Synaptopathies Consortium, which just received a new cycle of NIH funding. Autism spectrum disorder (ASD) is now believed to affect 1 in 59 children in the U.S. Over the past five years, Boston Children’s Hospital ... Read More about Exploring autism by way of three rare genetic disorders
Finally in the game: Patient in drug trial for PTEN mutation seems to benefit
From the time of Preston Hall’s birth at 30 weeks, his parents navigated multiple diagnoses, surgeries and sometimes life-threatening medical issues. At 11 months, Preston underwent skull revision surgery for trigonocephaly (a fusion of the skull bones causing a triangular-shaped forehead). After surgery, his doctors discovered serious airway and gastrointestinal issues that led to his ... Read More about Finally in the game: Patient in drug trial for PTEN mutation seems to benefit