Using whole genome sequencing, scientists at Boston Children’s Hospital have studied the genes and mutations of ataxia-telangiectasia (A-T) that would respond to treatments with splice-switching antisense oligonucleotides (ASOs). Their work, published on July 12, 2023, in Nature, determined the appropriate individualized genetic therapy for these patients and identified a new drug.

Genequantum Healthcare Co. Ltd. and Inxmed Co. Ltd. have signed a collaboration agreement under which Genequantum has granted nonexclusive licensing of its proprietary conjugation technology to Inxmed, supporting the development of the next generation of targeted antibody-drug conjugates (ADCs).

A new study on the interleukin 1 (IL-1) pathway and its involvement in systemic inflammation and autoinflammatory diseases has described a mutation of the IL-1 receptor type 1 (IL-1R1) receptor associated with chronic recurrent multifocal osteomyelitis (CRMO). The variant p.Lys131Glu of this receptor was identified in a patient with CRMO. A peripheral blood mononuclear cell analysis showed an inflammatory event in lymphocytes, especially in monocytes and neutrophils. The research was conducted by a group of scientists at Zhejiang University in China and reported in the July 11, 2023, issue of Immunity.

Raya Therapeutic Inc. has entered into an early-stage R&D collaboration with Argenx SE to evaluate combinations of Raya’s pipeline of targeted small molecules with a potentially complementary product from Argenx.

Parasitic diseases caused by trypanosomatid protozoa have long been treated with traditional methods. However, the effectiveness of current treatments for leishmaniasis is limited. Some are toxic, or have been abandoned, such as in the cases of Chagas disease and human African trypanosomiasis (HAT), commonly known as sleeping sickness.

The development of an embryo in its early stages involves a series of processes in which cells interact and organize to form tissues. In humans, these stages are studied with animal models, stem cells and cell aggregates that mimic natural development phases, or with human embryos, depending on their availability and a strict protocol. Now, in back-to-back papers published online in Nature, scientists from Yale University and the University of Cambridge have two new embryonic models formed from human stem cells to study development after embryo implantation in the uterus.

With CRISPR-Cas9 technology making its way toward clinical practice, laboratories are studying different gene-editing techniques, from base editors to prime editors, to correct mutations associated with various pathologies. Researchers at Tessera Therapeutics Inc. have been inspired by retrotransposons to develop a tool for editing DNA using RNA and reverse diseases such as phenylketonuria (PKU) or sickle cell disease (SCD).

Confo Therapeutics NV has entered into a research collaboration with Abcellera Biologics Inc. for the discovery of therapeutic antibody candidates targeting two undisclosed GPCR targets.