To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different families, followed by screening for pathogenic variants in selected individuals, which resulted in identification of 3 variants in HMCN1 (codes for hemicentin-1) that co-segregated with the disease phenotype severity in 4 families.
Silicosis, resulting from prolonged exposure to free crystalline silica dust, is an occupational disease characterized by silica nodules and extensive lung tissue fibrosis. The etiology of silicosis remains unclear, challenging early detection and effective treatment.
Psoriasis is a chronic, recurrent and inflammatory skin disorder associated with immune system dysregulation. The abnormal immune response led to accelerated skin cell proliferation, resulting in thick plaques and chronic inflammation. The current gold-standard treatment is injectable immunosuppression.
Bardet-Biedl syndrome (BBS) is a ciliopathy that leads to progressive blindness due to degeneration of cone photoreceptors, but the mechanisms behind this are not well understood. The syndrome is associated with obesity, polydactyly, cardiovascular disease and skeletal abnormalities, among others, and it is caused by genetic variants in the BBS10 gene in about 40% of the cases.
It was previously demonstrated that the HIV-1 integrase (IN)-interacting host factor INI1/SMARCB1 binds to HIV-1 IN through its Rpt1 domain of INI1 (INI1-Rpt1) and plays a key role in assembly and particle production.
Rakovina Therapeutics Inc. has received the first synthesized batch of AI-generated ATR inhibitor compounds developed in collaboration with Variational AI Inc. The companies partnered last year to leverage the Enki generative AI platform for the development of next-generation DNA damage response (DDR) inhibitors.
Triple-negative breast cancer (TNBC) is among the most aggressive breast cancer subtypes, with high metastasis and recurrence rates, as well as poor survival. While various molecular targets for TNBC do exist, the low proportion of expression of these molecules in TNBC tissues limits the number of patients that benefit from molecular therapeutics.
In 2020, the Conference on Retroviruses and Opportunistic Infections (CROI) was the first scientific conference to move from in-person to virtual due to the COVID-19 pandemic. On the fifth anniversary of the virtual conference, and the pandemic, some of those earliest COVID-19 patients have still not recovered.
Pierre Fabre SA and Redridge Bio AG have signed an exclusive R&D collaboration and license agreement to identify and develop biparatopic antibody drug candidates against multiple targets, with a focus on precision oncology, dermatology and rare diseases. The agreement provides for participation by Pierre Fabre in Redridge’s series A financing, as well as up-front, milestone and future sales royalty payments.
Inatherys SAS recently presented preclinical data for INA-03, an anti-transferrin receptor (TfR1/CD71) antibody-drug conjugate (ADC), being developed for the treatment of triple-negative breast cancer (TNBC). INA-03 was constructed by conjugating an antimitotic payload (MMAE) to a humanized IgG4 anti-human CD71 antibody using a novel valine-citrulline linker.
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