Research at the Taube/Koret Center
Disease Research
Alzheimer’s disease (AD) involves the progressive loss of memory and the ability to think. It robs us of all of those things (e.g., personality, memories) that make us human. In the end, it is invariably death. Tragically, although AD was first described over 100 years ago, no effective treatments are available.
Although not as well-known as Alzheimer’s disease, frontotemporal dementia (FTD) is a serious health problem. It is the second most common cause of dementia after Alzheimer’s disease and the most common cause in those under age 65. It involves the loss of neurons in the frontal (behind the forehead) and temporal (over the ears) lobes of the brain. FTD is hard to diagnose, but it generally involves problems with changes in social behavior and conduct, loss of understanding of words, and difficulty in speaking. Unlike Alzheimer’s disease, FTD does not affect memory.
Stem cells have amazing promise for making replacement tissues and organs. However, while that application might be some years in the future, stem cells have already proved to be a welcome breakthrough for neurodegenerative disease research. This is particularly true for a specific type of stem cells called induced pluripotent stem cells or iPSCs that were discovered by Gladstone investigator Shinya Yamanaka.
Finkbeiner Lab scientist Dr. Ashkan Javaherian and his team are using autophagy to better understand the mechanics of ALS — and to develop potential new ALS therapies.
Studies of human diseases in animals have always had limitations. Now Dr. Gaia Skibinski is using cutting-edge technology to create custom-made, entirely human neurons that manifest many of the characteristics of Parkinson’s disease. These single-cell PD models help her and her team to gain insights into the disease and to continue their search for possible new treatments for this devastating disease.
The robotic Microscope allows researchers to graduate from population studies to longitudinal studies of individual neurons.
Huntington’s disease (HD) is a debilitating fatal disease caused by a mutant gene that that has a repeating sequence. In general, the more repeats, the earlier the onset of the disease is. However, the length of the repeated sequence accounts for only part of the variability of the age of onset. Could other factors be involved? Dr. Julia Kaye and her team at the Taube-Koret Center use a technique called whole-genome sequencing to try to find pieces of DNA called genetic modifiers that are involved in coding as well as non-coding proteins that might modify the age of onset. They hope to identify new genetic modifiers to help them understand the factors that determine age of onset in HD and shape the search for HD therapies down the road.
Neurons are the structural and functional blocks that make up the human nervous system. Neurodegenerative disease is a broad terminology that encompasses various conditions resulting in the progressive death of neurons, such as Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), Huntington’s disease (HD), and Alzheimer’s disease.
Sadly, no disease-modifying therapies are available for any of these diseases. There are several reasons for this lack of treatments.
Lack of disease models that faithfully replicate disease characteristics:
Take a quick scan around you, and what do you see?
Everything we see is, in fact, composed of elementary particles of light called photons that reflect off of the objects in our visual path. Our eyes collect these reflected particles and, with the help of our brain, generate images for us to see. Although the human eye consists of remarkable machinery that enables us to interact with the world, it has some limitations.
First, our eyes have evolved to capture only a fraction of the light emitted by the sun, which we refer to as “visible” light.
Having grown up in a coastal town, the smell of the ocean evokes strong memories. Images of days in the sun, sounds of the crashing waves, the feeling of sand between my toes, the taste of salt water, and the joy of a relaxing afternoon replay in my mind’s eye like a faded home movie of experiences long since passed. The power of memory allows us to create and access a mental representation of the world, or to be swept up in the emotions of previous events. What is this ability to store and access information?