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What single cells are revealing about brain disorders

Drug Target Review

Neurological diseases are among the most complex and least understood conditions in medicine. Despite the knowledge that certain genes increase the risk of contracting diseases like Alzheimer’s and Parkinson’s, it is still not fully understood how those diseases develop in the brain. But that is beginning to change.

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NGS is evolving: collaboration and tech lead the way

Drug Target Review

The latest technologies are empowering researchers with faster, more efficient and more accessible genomic tools, leading to richer data generation and accelerating progress in areas like cancer genomics, rare disease research and infectious disease surveillance.​

RNA
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Scientific workflow for hypothesis testing in drug discovery: Part 1

Drug Target Review

Based in South Africa, she has worked extensively with international biotech companies, specialising in therapeutic development for aging-related diseases and complex conditions such as glioblastoma and Autosomal Dominant Polycystic Kidney Disease (ADPKD).

RNA
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Why Mallory Freeberg is creating a perturbation catalogue

The Open Targets Blog

You can also link the consequences of the perturbation to disease symptoms, suggesting novel targets for drug discovery. Connecting targets to disease, and predicting the impact of perturbing genes therapeutically will contribute to the development of new therapies. Perturbation Catalogue home page How will researchers use your data?

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Key projects

Broad Institute

From foundational multimodal models to targeted disease prediction, phenotyping, and drug repurposing, ML4H combines large-scale data, deep clinical insight, and cutting-edge AI methods to drive innovation across cardiology, neurology, and beyond. & Lead(s): Valentina D’Souza (ML4H), Emily Lau (MGH) &

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Genomic score predicts patients' progression to multiple myeloma

Broad Institute

The score, called an MM-like score, assesses the severity of disease and risk of progression to active cancer, with higher scores indicating faster progression. The MM-like score defined in this study focuses on the presence and progressive evolution of genetic abnormalities to assess the state of the disease.

DNA
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From siloed data to breakthroughs: multimodal AI in drug discovery

Drug Target Review

NGS has revolutionised genomic analysis, enabling the identification of disease-related genetic variants. This ability to correlate seemingly disparate data is crucial for tackling complex targets and discovering new treatments for diseases considered difficult to treat with conventional approaches.