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Patient Research

Spotlight: The Kuo Lab

Principal Investigator: Dr. Sheng-Han Kuo Location: Columbia University, New York, NY, United States Year Founded:  2012 What disease areas do you research? SCA1 SCA2 SCA3 SCA6 Tremor Essential Tremor What models and techniques do you use? Mouse models Post-mortem patient tissue Optogenetics Human physiology EEG (electroencephalogram) Neuromodulation Research Focus What is your Read More…

Spotlight: The Zoghbi Lab

Principal Investigator: Dr. Huda Zoghbi Location: Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, USA Year Founded:  1988 What disease areas do you research? SCA1 Rett Syndrome MeCP2 duplication syndrome Alzheimer’s disease Parkinson’s disease Brain development What models and techniques do you use? Mouse models Human cell biology Molecular biology Read More…

Elongating expansions in HD and SCA1

Written by Dr. Marija Cvetanovic  Edited by Dr. Larissa Nitschke Expanded CAG repeats are the cause of Huntington’s disease (HD) and several spinocerebellar ataxias (SCAs). Longer inherited CAG expansions correlate with the earlier disease onset and worse symptoms. We know from past research that these expansions are unstable and become longer Read More…

Spotlight: The Movement Analysis and Robotics Laboratory (MARlab)

Principal Investigator: Dr. Maurizio Petrarca Location: Bambino Gesù Children Hospital, Rome, Italy Year Founded: 2000 What disease areas do you research? Friedreich’s ataxia Early-onset ataxia Non-Progressive Cerebellar Ataxia Hereditary Spastic Paraplegia Duchenne Muscular Dystrophy Charcot-Marie-Tooth disease Cerebral Palsy Adrenoleukodystrophy What models and techniques do you use? Wearable Technologies Movement analysis Read More…

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