rare disease

Purdue University accelerates rare disease drug discovery with the WELLJET dispenser stacker

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Scientists at Purdue University are using the WELLJET dispenser stacker from INTEGRA Biosciences to increase the speed, consistency and scale of drug screening for rare and neglected parasitic diseases. Integrating automated liquid handling into their workflows has allowed the research team to standardize complex screening assays, improve reproducibility and significantly increase throughput.  Image Credit: Purdue … Read more

Study aims to understand molecular origins of CTNNB1 neurodevelopmental syndrome

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On the occasion of Rare Disease Day, the Biofisika Institute (CSIC, EHU) presents the progress of a project aimed at understanding the molecular origin of CTNNB1 neurodevelopmental syndrome, a rare disease caused by mutations in the beta-catenin protein. Although fewer than 50 cases of this pathology have been diagnosed in Spain, rare diseases affect a … Read more

Corneal nerve function declines with age in aniridia patients

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Congenital aniridia is a rare disease caused, in most cases, by mutations in the PAX6 gene, which is essential for the development of ocular structures. Although the most visible feature is the total or partial absence of the iris, its effects go far beyond this, as those affected often experience focusing problems, photophobia, and various … Read more

Transfusion Strategies Show No QOL Improvement in Anemia Patients

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Micah T. Prochaska, MD, MSc | Image Credit: University of Chicago School of Medicine A recent secondary analysis of data from the Myocardial Ischemia and Transfusion (MINT) trial has found no difference in quality of life (QOL) outcomes between liberal versus restrictive transfusion strategies in patients with myocardial infarction (MI) and anemia.1 Thanks to advances … Read more

Secukinumab Demonstrates Long-Term Safety for Psoriasis and PsA

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New findings from a real-world study has demonstrated long-term safety of secukinumab in people with psoriasis (PsO), psoriatic arthritis (PsA), and ankylosing spondylitis (AS).1 “Patients with immune-mediated inflammatory diseases such as PsO, PsA and AS, require prolonged treatment and are more susceptible to developing AEs as observed in clinical studies and case reports. Therefore, there … Read more

Advanced Treatments and Collaborative Care Closer to Home

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Nicholas Todhunter, DO Credit: AHN The neuroscience program at AHN Saint Vincent Hospital plays a vital role in providing advanced neurological care to patients in the Erie region — reducing the need to travel to a major city for many conditions. Without this local access, many would face delays in receiving life-saving or quality-of-life-enhancing treatment. … Read more

Lower Blood Pressure May Offer Benefits Even for the Very Elderly

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Adults aged 80 and older experience the highest prevalence of cardiovascular disease, yet the optimal blood pressure targets for this group have been unclear in clinical guidelines. Now, a new study from Yale School of Medicine (YSM) suggests that intensive blood pressure management may offer important benefits for very elderly patients. As the American population … Read more

Arthritis Precedes Psoriasis More Often Than Expected

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Hannah Y. Gantz Credit: Linkedin New research has found that symptoms of psoriatic arthritis (PsA) often precede psoriasis (PsO) development and psoriasis skin lesions.1 “PsA occurs in about 30% of patients with PsO, and an additional 5%–15% of psoriasis patients may have undiagnosed PsA. The current dogma is that PsO skin lesions generally occur before … Read more

LAP May Predict Risk of Hyperuricemia and Gout

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Lipid accumulation product had high potential in predicting the risk of gout/hyperuricemia in new research, offering a potentially modifiable risk factor for preventing gout.1 “Traditional metrics for evaluating obesity, such as Body Mass Index (BMI) and Waist Circumference (WC), have been widely utilized; however, they exhibit significant limitations in accurately reflecting the complex nature of … Read more

New blood test speeds up diagnosis of rare childhood diseases

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A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European Society of Human Genetics today (Monday). While rare genetic diseases are uncommon, as their name suggests, there are more than 7,000 types of disease caused … Read more