Ozge Ozkaya, MSc, PhD

Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench scientist for six years in the field of neuroscience before embarking on a career in science communication. She worked as the research communication officer at MDUK, a UK-based charity that supports people living with muscle-wasting conditions, and then a research columnist and the managing editor of resource pages at BioNews Services before joining Rare Disease Advisor.

All articles by Ozge Ozkaya, MSc, PhD

Study Elucidates Pathogenesis of Z-AAT-Associated Lung Disease

Researchers identified a mechanism that may be responsible for the toxic gain of function of Z-AAT, the most common form of alpha-1 antitrypsin (AAT) causing AAT deficiency (AATD), and published their results in JCI Insights. “The findings of this study will contribute to elucidating more details in the pathogenesis of Z-AAT-associated lung diseases,” they wrote.…


Broader Genomic Screening Detects Risk of MTC

Broader screening for pathogenic or likely pathogenic variants associated with endocrine tumor syndromes allows the detection of people at risk of developing the diseases, according to a new study published in BMC Medicine. Screening also results in the uptake of risk management and facilitates relevant diagnoses. “Further research will be necessary to continue to determine…

sickle cell disease

Proposed Genome Editing Technology Aims to Transform SCD Treatment

Precision BioSciences will use their novel genome editing technology called ARCUS® to develop a potentially curative treatment for sickle cell disease (SCD) and other hemoglobinopathies in collaboration with Novartis Pharma. The technology will use a custom nuclease to insert, in vivo, a therapeutic transgene at a “safe harbor” location in the genome. “We believe that…

White blood cells

Bruton Tyrosine Kinase Pathway Plays a Role in NMOSD Progression

The Bruton tyrosine kinase (BTK)/NF-κB pathway plays a critical role in the progression of neuromyelitis optica spectrum disorder (NMOSD), according to a new study published in the European Journal of Medical Research. “Our results shed light on its important role as a therapeutic target for NMOSD,” the authors of the study wrote. The pathogenesis of…

lab test

Pirfenidone Delays PAH Progression in Rodent Model

Pirfenidone improves pulmonary hemodynamics and vascular remodeling in a rat model of pulmonary arterial hypertension (PAH), a new study published in Pulmonary Circulation found. The study also found that the treatment decreased the cleavage of IL-1β and IL-18, which are products of the activation of NLRP3 inflammasome and play key roles downstream from NLRP3. The…

BMI calculator

Maralixibat Linked With Height and Weight Catch-Up in ALGS

Maralixibat treatment leads to height and weight catch-up in patients with Alagille syndrome (ALGS), according to a new study presented at the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) 54th annual meeting. “Patients with the greatest height disadvantage at baseline had the greatest catch-up in height,” the authors of the study said. Maralixibat…

petri dish

Novel Model Predicts Secondary Imatinib-Resistant GIST

Researchers from China developed a new model to predict secondary imatinib-resistant gastrointestinal stromal tumors (GISTs). Bioinformatic mining results of the study “provide potential and promising targets for imatinib-resistant therapy,” they said in a study published in the Scandinavian Journal of Gastroenterology. Imatinib is a drug that inhibits KIT signaling, which is involved in the pathogenesis…

genomic testing

Genome Editing Restores GAA Function in Patient With IOPD

Researchers managed to restore the function of the acid alpha-glucosidase (GAA) enzyme in fibroblasts derived from a patient with infantile-onset Pompe disease (IOPD) using genome editing techniques. They reported their findings at the American Society of Gene and Cell Therapy (ASGCT) 25th Annual Meeting. “The results presented herein underscore the potential of base and prime…


Study Provides Novel Insights Into Myasthenia Gravis Pathophysiology

The long noncoding RNA (lncRNA) growth arrest specific 5 (GAS5) can regulate the balance of T helper 17 (Th17)/regulatory T (Treg) cells in myasthenia gravis by targeting miR-23a expression, according to a new study published in the Journal of International Medical Research.  This finding provides a scientific basis for the development of clinical therapeutics for…

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