New MECP2 gene variant identified and characterized in Rett syndrome

New MECP2 gene variant identified and characterized in Rett syndrome

Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic ‘hand-wringing’ movements, seizures, and cognitive disability. This incurable condition results from mutations in the methyl-CpG binding protein 2 (MECP2) gene that impairs the role of the MeCP2 protein in … Read more

Brain development linked to the emergence of autism spectrum disorder

Brain development linked to the emergence of autism spectrum disorder

Two distinct neurodevelopmental abnormalities that arise just weeks after the start of brain development have been associated with the emergence of autism spectrum disorder, according to a new Yale-led study in which researchers developed brain organoids from the stem cells of boys diagnosed with the disorder. And, researchers say, the specific abnormalities seem to be … Read more

Machine learning can accurately predict subtypes of Parkinson’s disease

Machine learning can accurately predict subtypes of Parkinson’s disease

Researchers at the Francis Crick Institute and UCL Queen Square Institute of Neurology, working with technology company Faculty AI, have shown that machine learning can accurately predict subtypes of Parkinson’s disease using images of patient-derived stem cells. Their work, published today in Nature Machine Intelligence, has shown that computer models can accurately classify four subtypes … Read more

MGH opens first-of-its-kind center to eliminate lifelong immunosuppression after organ transplant

MGH opens first-of-its-kind center to eliminate lifelong immunosuppression after organ transplant

Massachusetts General Hospital (MGH), a founding member of the Mass General Brigham health system, officially opened the Legorreta Center for Clinical Transplant Tolerance, the first-of-its kind center in the world dedicated to preventing organ rejection after transplant surgery without the use of lifelong immunosuppressive medications. Immunosuppressive medications prevent the immune system from rejecting a transplanted … Read more

‘Geneva patient’ becomes first to be cured of HIV after ‘normal’ stem cell transplant

‘Geneva patient’ becomes first to be cured of HIV after ‘normal’ stem cell transplant

After 20 months after interrupting antiretroviral therapy, HIV was undetectable in the patient’s blood. A man known as the “Geneva patient” has become the latest person in the world to be cured of HIV after a stem cell transplant for cancer treatment. While there have been five other known cases of people who have been … Read more