Volume 26 Issue 10, 1 October 2020

Patients with rare diseases, and the scientists who study those diseases, were long inhibited by geographic sparsity. But the social-media age has made it much easier for them to band together to leverage their experience and push forward change.

In recent years, patient research groups have spurred culture shifts in biomedical research and governance, with many health experts lauding the benefit of these groups’ being embedded in the research process. Some, however, question private-sector influence in these groups’ newfound power.

Patients’ contributions to biomedical research have quickly been shifting from passive participant to active contributor. But what happens when the person with lived experience of the disease becomes the clinical researcher?

Melanoma Patient Network Europe has a lot of experience in connecting researchers with patients, including organizing patient-led conferences. The group’s founder explains how productive interaction can be transformative to research.

The Human Cell Atlas has been undergoing a massive effort to support global scientific equity. The co-leaders of its Equity Working Group share some lessons learned in the process.

Single-cell RNA sequencing across the menstrual cycle reveals human endometrial cell–specific preparation for embryo implantation, menstruation and tissue renewal.

An increase in cannabis use is inevitable, and the spread of its legalization will probably result in increasing use during pregnancy. A study from Canada uses real-world data to quantify the cognitive effects on offspring of in utero cannabis exposure.

Combining organoids and decellularized intestinal scaffolds generates durable hybrid intestines that will open up new avenues for the regenerative treatment of patients with intestinal failure.

Anticancer therapies that target the HIF oxygen-sensing pathways are moving into the clinic, in particular in kidney cancer.

In a cohort of nearly half a million births in Ontario, Canada, maternal cannabis use in pregnancy was associated with an increased incidence of autism spectrum disorder diagnosis in the offspring.

Polygenic risk scores can predict susceptibility to drug-induced liver injury in patients and can stratify cellular viability of iPSC-derived liver organoids and primary hepatocytes from multiple donors.

Clinical sequencing across a large prospective cohort of patients with myelodysplasic syndrome uncovers distinct associations between the mono- and biallelic states of TP53 and clinical presentation

Clinical activity and biomarker analysis from the COMBI-i trial evaluating PD-1, BRAF and MEK inhibition in patients with metastatic melanoma demonstrate high response rates and uncover molecular correlates of long-term treatment benefit.

The randomized phase 2 trial S1320 comparing different dosing schedules of BRAF/MEK inhibitor combination in BRAF-mutated advanced melanoma shows intermittent therapy does not result in superior progression-free survival in patients.

A new bispecific CAR T cell product targeting the CD20 and CD19 antigens demonstrates an excellent safety profile and high clinical efficacy in patients with B cell non-Hodgkin lymphoma and chronic lymphocytic leukemia.

A deep neural network applied to smartphone-based vascular imaging can detect diabetes, opening new possibilities for non-invasive diagnosis.

Endogenous skeletal stem cells are recruited to form cartilage in mice when stimulated by microfracture surgery together with localized delivery of growth factors, pointing to a new approach for treating cartilage defects.

In a first step toward developing autologous tissue grafts for the treatment of children with intestinal failure, patient-derived jejunal organoids seeded on scaffolds of decellularized human intestinal matrix formed grafts that had jejunal properties and formed luminal structures when transplanted into mice.

Identification in Rwanda of mutations in Plasmodium falciparum capable of conferring in vitro resistance to artemisinin, an essential medicine for the treatment of malaria, underscore the crucial need for surveillance in Africa to safeguard efficacy of life-saving therapies.

A combination of clinical and molecular analyses supports an association between disorders of immune complement or coagulation with poor outcome in patients with SARS-CoV-2 infection.

Combining fine-scale social contact data with epidemic modeling reveals interactions among contact tracing, quarantine, testing and physical distancing for controlling COVID-19.

A common immune signature in the blood of patients with COVID-19, who are otherwise clinically heterogeneous, sheds light into the pathogenesis and clinical progression of the disease.

Elevated levels of serum IL-6 and TNF-α at the time of hospitalization are independent and significant predictors of clinical outcome in two cohorts of patients with COVID-19.

Single-cell transcriptomics analysis of endometrium samples from healthy women collected across the menstrual cycle provides insights into the cellular and molecular changes surrounding and during the implantation window in the absence of pregnancy.

Using magnetic resonance images of the heart and aorta from 26,893 individuals in the UK Biobank, a phenome-wide association study associates cardiovascular imaging phenotypes with a wide range of demographic, lifestyle and clinical features.