Neuroscience

Decoding neuropathies with TDP-43 and CRISPR

Wed, 08 Jul 2026 12:47:04 GMT

Neurodegenerative disorders linked to protein dysfunction are difficult to study because of the complexity of the underlying molecular interactions. A great example is TAR DNA-binding protein 43 (TDP-43), found in diseases like amyotrophic lateral sclerosis (ALS), Parkinson's disease and several types of dementia. Today, researchers are still trying to answer how TDP-43's activity translates into broader cellular effects.

In this webinar, we will explore how to combine CRISPR-based screening approaches and pathway-level analysis for biological interpretation that encompasses more than gene-level observations. Using QIAGEN Ingenuity Pathway Analysis (IPA), we will demonstrate strategies to contextualize screening results and assess the functional relevance of candidate modifiers within cellular networks.

You will learn:

About the role of TDP-43 in the cell and its connection to neuropathies
How to investigate CRISPR screen hits using IPA
How to validate the rescue effect of genetic modifiers using pathway activation scores

Expanding rare disease horizons Developing a diagnostic algorithm for...

Thu, 02 Jul 2026 15:36:25 GMT

In the absence of genetic testing, is there a clear way forward with diagnosing and treating rare genetic diseases?

A great challenge in rare disease research is finding enough affected individuals to create large cohorts. In addition to limited logistical or financial access to NGS, clinicians are often left to rely solely on observed symptoms. Unfortunately, clear guidelines on facilitating diagnoses and care for many diseases in resource-limited settings are non-existent.

In this webinar, Claudio de Gusmao, director of the Pediatric Movement Disorders Program at the University of São Paulo, will show how his team developed a diagnostic and management algorithm using KCNA1 mutation-driven episodic ataxia type 1 (EA1) and CACNA1A mutation-driven episodic ataxia type 2 as a model. De Gusmao will explore how:

Specific clinical variables can assist in the differential diagnosis of EA1 vs. EA2, such as attack duration, triggers, interictal symptoms, and more.
Statistical analyses of published cases can potentially advance rare disease research.
Comprehensive, human expert-curated variant data such as from Human Mutation Gene Database (HGMD) Professional can help streamline the process of vetting variants and published studies in preparation for systematic literature reviews.

Target discovery in Alzheimer’s: Linking causal biology with CNS expression

Thu, 02 Jul 2026 14:23:43 GMT

Public neuroscience datasets are abundant, but they prove difficult to translate into targets due to complexities with brain regions, cell types and more.

Using Alzheimer’s disease as a case study, our webinar will explore how you can combine causal relationship evidence with deeply curated neurodegenerative and neuroinflammatory disease cohorts to prioritize targets relevant to the central nervous system (CNS).

You will learn:

To identify hub genes and validate human CNS cell-type expression
- Which candidates align with CNS cell types (e.g., neurons, astrocytes, microglia, oligodendrocytes), supporting biological plausibility?
To triage candidates based on known drug evidence
- Which candidates intersect with known drug targets or pharmacology, enabling rapid triage?
To extend insights into related neurological indications
- How can network context and cohort evidence support indication expansion into related neurodegenerative or neuroinflammatory disorders?

Shared Pathways, Many Origins: How Diverse Genetic Risk Targets Share...

Wed, 20 Aug 2025 15:57:37 GMT

Over two decades of research have uncovered over 100 genes with rare mutations linked to autism spectrum disorder (ASD), yet transcriptomic and epigenetic analyses reveal convergent dysregulation patterns in ASD brain tissue. In this webinar, learn how Dr. Dan Geschwind and his team at UCLA combine bioinformatics and experimental approaches to show that both common and rare genetic variations converge during early fetal cortical development. Using the largest hiPSC patient cohort and cortical organoid models, they identified shared transcriptional changes and created a resource of isogenic lines with over 100 ASD-associated mutations. Their integrative, network-based approach aims to clarify how genetic risk influences neurodevelopment through transcriptional regulation.

Speaker: Dan Geschwind, MD, PhD

Gordon and Virginia MacDonald Distinguished Professor of Neurology, Psychiatry and Human Genetics

Senior Associate Dean and Associate Vice Chancellor of Precision Health, Institute for Precision Health (IPH)

University of California Los Angeles (UCLA)