Program

Day 1
07 Nov 2019
Day 2
08 Nov 2019

Welcome

Robert H. Brown, Jr., M.D., D.Phil
Jeffrey D. Macklis, M.D., Ph.D.
A. Nazlı Başak, Ph.D.

Regulation of RIPK1 activation in neurodegenerative diseases associated with aging

Upregulation of death receptor family ligands, such as TNFα, can sensitize cells in the CNS to apoptosis and a form of regulated necrotic cell death known as necroptosis that is...
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Junying Yuan, Ph.D.

Axonal death 1: Wallerian Degeneration in Human Disease

Axons degenerate before the neuronal soma in many neurodegenerative diseases, including ALS. Whether this reflects pathogenic events within the axon itself or a failure of support by the soma, maintaining...
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Michael Coleman, Ph.D.

Axonal death 2: Axon Degeneration: Molecular Mechanisms and Therapeutic Potential

Axon degeneration is an early event contributing to morbidity and progression of neurodegenerative diseases including peripheral neuropathy, multiple sclerosis, ALS, and Parkinson’s disease. Axon degeneration is active program of subcellular...
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Aaron DiAntonio, M.D., Ph.D
10:30 - 11:00

Coffee Break

Axonal death 3: Axon death from a fly’s perspective

Axon degeneration is a shared feature in neurodegenerative disease, and when nervous systems are challenged by mechanical or chemical forces. Yet our understanding of the molecular mechanisms underlying axon degeneration...
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Lukas J. Neukomm, Ph.D.

Axonal death 4: Shared Mechanisms of Axon Regeneration and Degeneration

An injured or diseased axon has two choices: degenerate or regenerate. In the compromised central nervous system, regeneration is inhibited and degeneration is promoted, resulting in irreparable loss of neuronal function. How...
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Alexandra Catherine Byrne, Ph.D.
12:30 - 13:00

General Discussion

13:00 - 13:45

Lunch Break

The Complex Genetics of Motor Neurone Diseases in Turkey

Turkey is a large country with a young population. In contrast to European countries in which population sizes have steadily been decreasing in the last 50 years, Turkey is still...
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A. Nazlı Başak, Ph.D.

Characterization of the genetic structure of Turkey reveals a high level of admixture

We investigated the genetic structure of Turkey from 3,599 unrelated subjects who have been whole-exome (n = 2,826) and wholegenome (n = 773) sequenced. We observed a high level of...
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Tayfun Özçelİk, M.D., Ph.D.

Toward Elucidating Neuronal Subtype-Specific Subcellular Vulnerability in ALS

This talk will discuss two central ideas relevant to ALS, both dealing with circuit development, synaptic maintenance, and selective vulnerability of the “upper motor neurons” involved: 1) that distinct and...
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Jeffrey D. Macklis, M.D., Ph.D.
16:00 - 16:30

Coffee Break

Endosomal Trafficking as a Determinant of Selective Cellular Vulnerability in Alzheimer’s and Parkinson’s Diseases

Every major neurodegenerative disease has familial sub-types that are characterized by mutations in genes expressed in all cells in the body. Why, then, are only certain cell types vulnerable to...
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Gregory A. Petsko, D. Phil.

Selective vulnerability in frontotemporal dementia and amyotrophic lateral sclerosis

The anatomy of neurodegenerative disease can be understood in terms of two key aspects: onset and progression. Whereas mechanisms of progression have become clearer in recent years, factors controlling neuron...
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William Seeley, M.D.
18:00 - 18:45

General Discussion

Day 3
09 Nov 2019

Sarm1 deletion suppresses TDP-43-linked motor neuron degeneration and cortical spine loss

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition that primarily affects the motor system and shares many features with frontotemporal dementia (FTD). Evidence suggests that ALS is a ‘dying-back’...
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Jeemen Sreedharan, M.D., Ph.D.

A new perspective on chromatin organizations in IPS-derived C9orf72 motor neurons

C9orf72 is the most common causative gene for amyotrophic lateral sclerosis (ALS), accounting for up to ~40% of familial and ~7% of sporadic cases. The pathological defect in the C9orf72...
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Özgün Uyan, Ph.D. Student
09:30 - 10:00

Coffee Break

Quality control and aggregation in an aging vertebrate proteome

Age is the greatest risk factor for many neurodegenerative pathologies caused by protein aggregation. Yet because vertebrate model organisms have very long lifespans, examining the intersection of genetic risk factors...
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Daniel Jarosz, Ph.D

Vital cellular processes are impaired in ALS motor neurons and microglia derived from human iPS cells

Human induced pluripotent stem cells (iPSCs) have emerged as a valuable system for modeling human disease, particularly for disorders such as amyotrophic lateral sclerosis (ALS) that can be caused by...
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Daryl A. Bosco, Ph.D.
11:30 - 11:45

Break: Group picture

Building a science-based pipeline of disease-modifying therapies for ALS

Despite the existence of two FDA-approved drugs, there are still no potent disease-modifying therapies for ALS. At Biogen, where Neuromuscular Disease is a priority area, our first programs focus on...
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Christopher Henderson, Ph.D.

Designer DNA drug therapy for human neurodegenerative disease

The genes whose mutation causes neurodegenerative disease are widely expressed within neurons and non-neurons of the nervous system, producing misfolded proteins that induce cellular stress not only within the most...
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Don W. Cleveland, Ph.D.
13:15 - 14:00

Lunch Break

ALS gene suppression: pilot studies

Mutations in more than 40 genes are robustly associated with ALS and ALS-FTD.  These define several primary categories of pathophysiology in ALS involving the biological properties of RNA, conformational stability...
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Robert H. Brown, Jr., M.D., D.Phil

A Decade of IPS Cell Research in ALS

It has now been roughly 10 years since we first reported production of the first motor neurons derived from patients with ALS. In the subsequent decade, methods for using these...
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Kevin Eggan, Ph.D.
15:30 - 16:00

General Discussion