MassGeneral Institute for Neurodegenerative Disease

Translating today's discoveries into tomorrow's cures

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Kim, Doo Yeon, PhD

Biography
Affiliations

Dr. Doo Yeon Kim has been investigating physiological and pathological function of Alzheimer’s disease secretases, BACE1 and presenilin/gamma-secretase. He contributed to research that shows in addition to interacting with APP, BACE1 has an important role in regulating membrane excitability of brain cells cell, which may explain a higher risk of seizures in Alzheimer’s disease patients. BACE1 cleaves beta subunits of neuronal ion channels including voltage-gated sodium channels, and therefore controls how nerve cells fire.

Li, Airong, MD, PhD

Biography
Affiliations

Dr. Li applies molecular genetics techniques to identify and characterize genes associated with human disease. Dr. Li’s recent work includes investigation of the functional role of UBQLN1 in Alzheimer’s disease (AD) pathogenesis; identification and characterization of novel mutations in PSEN1 and PSEN2 in dilated cardiomyopathy patients; and determination of the effects of AD-associated presenilin and multiple diseases and traits-associated SOX5 on heart development and cardiac function. Dr. Li’s current research interests focus on genetic studies of AD and hidradenitis suppurativa.

Wainger, Brian, MD, PhD

Biography
Affiliations

Brian Wainger’s lab fuses electrophysiology and stem cell biology to explore how abnormal neuronal physiology contributes to diseases of the motor and sensory nervous systems. Working with motor neurons derived from ALS patients and healthy controls, Dr. Wainger performed fundamental electrophysiological characterization and identified motor neuron hyperexcitability in ALS patient-derived motor neurons (Wainger et al., 2014). Mechanistic analysis of the motor neurons led to the identification of a novel therapeutic candidate, which will be investigated in a clinical trial.

Gomez-Isla, Teresa, MD

Biography
Affiliations

Teresa Gomez-Isla has specific clinical interests in Alzheimer's disease and other dementias. She sees patients with these disorders as part of clinical evaluation and care, as well as for research purposes. There is a great need to understand the mechanisms that lead to neural system collapse and impaired cognition in Alzheimer's disease and related disorders, and to find better treatments potentially able to prevent or cure this illness. Her lab focuses on the development and characterization of transgenic mouse models of Alzheimer's disease and on testing novel therapeutic strategies.

Gomperts, Stephen, MD, PhD

Biography
Affiliations

Stephen Gomperts investigates Alzheimer's disease, Parkinson's disease, and Dementia with Lewy Bodies, as well as normal brain function, using both laboratory research and clinical research strategies. His laboratory research is focused on how populations of neurons in the hippocampus represent information, encode new memories, and coordinate with other brain structures in the service of behavior; and how to rescue the failure of those processes in neurologic diseases.

Kegel-Gleason, Kimberly, PhD

Biography
Affiliations

Kimberly Kegel-Gleason studies the normal and altered function of huntingtin (htt), the protein mutated in Huntington Disease (HD). Her early work revealed that autophagy and the lysosomal system were activated with htt accumulation in an HD cell system. More recently, she has discovered a normal association of htt with specific phosphoinositol phosphates (PIPs). PIPs are lipids present in membranes that can act to target proteins to specific sites within cells. The finding that htt interacts with specific PIPs will help to understand htt function at a molecular level.

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