Rare Disease News and Research

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Insilico and Bora Pharmaceuticals forge strategic AI-driven drug discovery alliance

Insilico and Bora Pharmaceuticals forge strategic AI-driven drug discovery alliance

AI errors shaped doctors’ judgments despite contradictory evidence

AI errors shaped doctors’ judgments despite contradictory evidence

Physicians often trust incorrect AI treatment recommendations, study finds

Physicians often trust incorrect AI treatment recommendations, study finds

Purdue University accelerates rare disease drug discovery with the WELLJET dispenser stacker

Purdue University accelerates rare disease drug discovery with the WELLJET dispenser stacker

n6 launches icon16™, expanding AutoNorm™ adaptive amplification to lower-throughput NGS workflows

n6 launches icon16™, expanding AutoNorm™ adaptive amplification to lower-throughput NGS workflows

Advancing Motor Neuron Disease Diagnosis with Non-Invasive Ultrasound and AI

Advancing Motor Neuron Disease Diagnosis with Non-Invasive Ultrasound and AI

Rare genetic condition offers new insights into human aging process

Rare genetic condition offers new insights into human aging process

Pioneering gene therapy for rare immune disorder shows promise in early pre-clinical studies

Pioneering gene therapy for rare immune disorder shows promise in early pre-clinical studies

Discovery of karyoptosis opens new therapeutic targets for Alzheimer's and frontotemporal dementia

Discovery of karyoptosis opens new therapeutic targets for Alzheimer's and frontotemporal dementia

Open source tool automates data reanalysis to detect rare diseases

Open source tool automates data reanalysis to detect rare diseases

Gene therapy shows promise against deadly childhood liver disease

Gene therapy shows promise against deadly childhood liver disease

Gene therapy successfully treats deadly childhood liver disease in mice

Gene therapy successfully treats deadly childhood liver disease in mice

New DNA test improves diagnosis of rare genetic disorders

New DNA test improves diagnosis of rare genetic disorders

New genetic driver found for rare small intestinal cancers

New genetic driver found for rare small intestinal cancers

Study identifies an important driver of inflammatory bowel disease

Study identifies an important driver of inflammatory bowel disease

Grant fuels research into SYNGAP1-linked behavioral abnormalities

Grant fuels research into SYNGAP1-linked behavioral abnormalities

Hidden junk DNA could play decisive role in cancer

Hidden junk DNA could play decisive role in cancer

Genetic testing identifies cause of pancreatic agenesis in infants

Genetic testing identifies cause of pancreatic agenesis in infants

New computational tool uses plain language for genetic diagnosis

New computational tool uses plain language for genetic diagnosis

Phase two clinical trial demonstrates dramatic mobility gains in children with severe fibrous dysplasia

Phase two clinical trial demonstrates dramatic mobility gains in children with severe fibrous dysplasia

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