Volume 26 Issue 2, February 2020

Some individuals choosing physician-assisted death donate their tissue to science.

Muzlifah Haniffa is a dermatologist working at Newcastle University and Wellcome Sanger Institute. Her achievements were recognized by the 2019 Foulkes Foundation Medal awarded by the Academy of Medical Sciences. She also plays a pioneering role in the Human Cell Atlas initiative.

As medical students, we have a responsibility to our future patients, but our training is not preparing us for healthcare provision in the era of climate change, say Areeb Mian and Shujhat Khan.

The World Health Organization’s targets for eliminating hepatitis C virus by 2030 have been deemed ambitious by many. However, we believe they are achievable, provided they are supported by global commitment.

In an increasingly hyper-polarized world, the weight of public perception can dissuade policymakers from implementing scientifically sound health policies. The scientific community has a responsibility to make facts outweigh opinion.

A genetic study of angiosarcoma designed through an online patient-partnership model overcomes key barriers in rare-disease research and provides indicators of clinical approaches.

A new positron emission tomography radiotracer enables imaging of the human glutamate receptor AMPA-R, a fundamental component of neurotransmission involved in neuropsychiatric disorders.

Detailed single-cell RNA-sequencing analysis of skin and blood from a patient with DRESS, a severe adverse drug reaction, leads to a personalized, hypothesis-driven treatment.

Cells develop a heterogeneous response to KRAS inhibitors, bypassing their anti-growth effects by producing more of the protein that does not bind the inhibitor.

Amit and colleagues discuss where single-cell genomic technologies can be applied both in trial design and in the clinical trial stage to improve the development of immunotherapies.

A framework of patient-partnered research allows patients with angiosarcoma to share their samples and clinical records securely to accelerate molecular characterization of tumors and identification of therapeutic approaches.

Application of machine-learning models on very shallow RNA sequencing data maintains predictive performance across different tumor types.

Transcriptomic analysis of peripheral CD8⁺ T cells in a cohort of patients with metastatic melanoma receiving checkpoint inhibitors shows that the number of large clones early post-treatment is strongly associated with six-month clinical outcome.

Initial results from phase I/II lentiviral gene therapy trials provide early evidence supporting its safety and efficacy in treating patients with X-linked chronic granulomatous disease.

CRISPR–Cas9-mediated gene editing restores dystrophin expression in both pig and human induced pluripotent stem cell models of Duchenne muscular dystrophy, with beneficial effects on skeletal muscle and cardiac function.

Most infants with cystic fibrosis have poor early linear growth in their first year despite nutritional supplementation and treatment. Intestinal dysbiosis in these infants is associated with low length, suggesting a path for intervention.

T cell responses specific for HIV-1 Gag peptides increased in HIV-positive recipients of two broadly neutralizing antibodies with prolonged suppression of blood viremia during antiretroviral treatment interruption.

Zika virus vaccination elicits Zika and dengue virus cross-neutralizing antibodies in flavivirus-exposed individuals, potentially enhancing the protective efficacy of the vaccine in flavivirus-endemic regions.

Single-cell RNA sequencing facilitates successful therapeutic treatment of a patient with a rare and severe drug-induced inflammatory skin reaction.

Inactivating mutations in a protein kinase, NEK10, cause a genetic bronchiectasis syndrome in humans that is characterized by short motile cilia and impaired mucociliary transport.

Genetic analysis of data from over 400,000 participants in the UK Biobank Study shows that circulating testosterone levels have sex-specific implications for cardiometabolic diseases and cancer outcomes.

Single-cell analysis of lung cancer progression uncovers developmental and regenerative programs co-opted by cancer cells and immune-mediated pruning during metastatic outbreak

In a first-in-human, phase I trial in patients with B-cell lymphoma, CD19 CAR T cells with fully human binding domains exhibit lower neurologic toxicity, but similar clinical activity, to previously tested CD19 CAR T cells with murine binding domains.

A newly developed PET tracer allows visualization of AMPA receptors in the living human brain, providing a new tool to study their potential involvement in neurological or psychiatric disorders.

iPSC-derived midbrain dopaminergic neurons from patients with young-onset Parkinson’s disease exhibit molecular abnormalities, including elevated α-synuclein and lysosomal dysfunction, which can be normalized with phorbol ester treatment.