In some cases, healthcare providers can identify Angelman syndrome in utero through a prenatal ultrasound or prenatal genetic testing. But could this open the door to early treatment and better…
Anna-Lena Neehus of the Imagine Institute at Paris Cité University was searching through genomic data from over 15,000 patients. She wanted to understand how and whether genetic deficiencies contributed to…
The European Society of Cataract & Refractive Surgeons (ESCRS) held its ESCRS Winter Meeting from February 15-18, 2024. During the meeting, Dr. M.S. Swathi, MD, shared data from a pilot…
People with Cushing's disease have a benign pituitary tumor or pituitary growth that, when triggered, overproduced adrenocorticotropic hormone (ACTH). Too much ACTH causes the body to also overproduce cortisol. Known as…
Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
Parkinson's disease is a progressive neurodegenerative disease. As neurons in the brain degenerate and die, those affected experience symptoms such as tremors or shaking in the hands, slowed movement, muscle…
Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
The European Medicines Agency (EMA) explains that monepantel is an anthelmintic therapy, or a type of therapy that is used to expel worm-like parasites called helminths or nematodes from the gut.…
In early March 2024, Clinical Trials Arena reports that global biopharmaceutical company Bristol Myers Squibb shared new data from the Phase 3 DAYBREAK study. Within the study, researchers explored how…
Corticosteroids are one of the standards-of-care for treating alopecia areata, alongside treatments such as topical sensitizers and Rogaine. However, none of these treatments have a high level of evidence in…
Children with late-infantile onset Batten disease (CLN2) may be treated with an enzyme replacement therapy (ERT). However, this therapy cannot reverse the damage or progression children have already experienced. Researchers…
The 20th annual WORLDSymposium took place from February 4-9, 2024. During the course of the research conference, at least one presentation centered on data from the Phase 2 Mini-COMET long-term…
Having a chronic illness can be isolating. It can be difficult to share vulnerable and sensitive information about yourself with others, or to find ways to manage the trauma and…
Imagine if you had recurring attacks of severe and unexplained swelling beneath your skin. For individuals living with hereditary angioedema (HAE), a rare inherited disorder, this isn't just a mere…
Alzheimer’s disease is a progressive neurodegenerative disease and the most common form of dementia. People with Alzheimer’s disease may have difficulty remembering information, problems with learning, sleep disruptions, poor judgment,…
In total, there are thirteen subtypes of Batten disease. Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a rare and inherited neurodegenerative disorder that causes visual impairment, behavioral…
What role do brain alterations play in the onset and progression of spinocerebellar ataxia type 6 (SCA6)? While previous studies highlighted cerebellar changes in individuals with SCA6, the underlying mechanisms…
Quinnlyn Walters is a bright, bubbly, and active 8-year-old. She loves reading, riding horses, swimming and softball, karate, Star Wars, and spending time outside with her friends and family. But…
At four and a half years old, Tucker Lewis is thriving. He loves playing with his friends, riding his bike outside, and watching the Atlanta Braves (He's even going to…
Biomarkers are objective measures that scientists, researchers, and doctors can use to understand what is going on in your body. For example, your blood pressure can tell doctors about your…
Treatments and management plans exist for chronic obstructive pulmonary disease (COPD), heart failure, and interstitial lung disease (ILD). Yet despite these treatments, many people with these conditions still experience chronic…
Metabolic dysfunction-associated steatohepatitis (MASH) unfortunately has no treatments to reverse the disease or its damage. MASH can be managed through weight loss, regular exercise, and blood sugar management. But identifying…
According to reporting from Healio Psoriatic Disease, the Food and Drug Administration (FDA) recently updated the label for Dupixent (dupilumab) in the indication of moderate-to-severe atopic dermatitis with moderate-to-severe hand…
Type 1 diabetes (T1D), rheumatoid arthritis, lupus, and ulcerative colitis are all examples of autoimmune diseases. An autoimmune disease is a condition that occurs when the immune system mistakenly attacks…
Genes serve as the intricate orchestrators of our health. By better understanding our genetic makeup, we gain invaluable insights into how our genes shape and affect us. Yet the genetic…
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