Rare Disease

Researchers hope that this work helps improve the targeting of assessments and interventions

The expanded guidelines will enable clinicians and researchers to take better advantage of whole-genome sequence data

Implementing in-house NGS testing at a community hospital provides patients access to targeted lifesaving treatments

Lung Airway Chip could transform cystic fibrosis research, potentially leading to better treatments and outcomes

Test reliably screens for three rare genetic disorders in infants

Research from this past year highlights the potential of CRISPR-Cas9 technology in modeling and treating rare disease

Identifying rare variant risk factors in individuals with schizophrenia could lead to better understanding of prognosis

Genomenon to make variant data on ENPP1 Deficiency available to genetic testing labs across the world

The network will help understand underlying mechanisms of rare diseases

Investigators present studies on rare disease research that achieved negative or irreproducible results