Magdalena Kegel,  —

Magdalena holds an MSc in Pharmaceutical Bioscience and an interdisciplinary PhD merging the fields of psychiatry, immunology and neuropharmacology. Her previous research focused on metabolic and immunologic changes in psychotic disorders. She is now focusing on science writing, allowing her to culture her passion for medical science and human health.

Articles by Magdalena Kegel

Biomarin Advances Compound for Human Friedreich’s Ataxia Trials

Biomarin has selected a potential therapy candidate to test in human clinical trials in Friedreich’s ataxia. The compound, BMN 290, turns the frataxin gene back on by altering the three-dimensional structure of the genetic sequence. Tests in animal models of Friedreich’s ataxia show that BMN 290 increases frataxin production…

Trailblazing Friedreich’s Ataxia Researcher Wins American Chemical Society Award

A University of Pennsylvania medical professor has won an American Chemical Society award for his pioneering work on the molecular abnormalities that underpin Friedreich’s ataxia. Dr. Ian A. Blair received the 2017 Founders’ Award from the society’s Division of Chemical Toxicology for helping to increase understanding of the abnormalities. Blair is the A.N.

Study Links Diabetes in Friedreich’s Ataxia to More Severe Disease and Disability

Researchers at the Children’s Hospital of Philadelphia (CHOP) have linked the presence of diabetes in Friedreich’s ataxia (FA) patients to more severe symptoms and a reduced capacity to manage daily living tasks. These insights suggest that identifying patients with diabetes and more actively managing their disease might help improve their health…

Friedreich’s Ataxia Cognitive Loss Linked to Abnormalities in Non-movement-related Brain Areas

Friedreich’s ataxia patients’ cognitive decline is linked to changes in brain networks — but the changes go beyond the movement-related cerebellum and spinal cord neuron degeneration associated with the disease, a study suggests. The findings led the research team to suggest that Friedreich’s ataxia is a multisystem disorder. The implication is…

Identifying Ataxia Cause is Challenging, But Crucial Task, Study Finds

Identifying the underlying cause, and setting a diagnosis of ataxia is crucial, since therapies are available for some cases of immune-mediated or genetically acquired ataxias. A review of all diagnoses among a large sample of ataxia patients revealed that familial ataxias, including Friedreich’s ataxia, represent only a small proportion of…

Case Report of Young Sisters Indicates FA Symptoms Vary Widely

A case report suggests that Friedreich’s ataxia can manifest as abnormal voluntary eye movements, rather than the typical loss of gait and limb control. To reduce the risk of misdiagnosis, researchers behind the report urge neurologists to bear in mind that the symptoms of the disease can vary widely, possibly…

Do Iron Deposits Drive Neurodegeneration in Friedreich’s Ataxia? Yes, Study in Fruit Flies Suggests

Neurodegeneration in Friedreich’s ataxia can be independent of faulty mitochondria and oxidant molecules. Rather, researchers at Baylor College of Medicine in Houston, Texas, demonstrated that iron toxicity contributed to disease processes in a fruit fly model of the disease. The study, “Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and…

Faulty Mitochondrial Process in Friedreich’s Ataxia Described

Scientists at University College London have, for the first time, described the full sequence of faulty mitochondrial processes in a Friedreich’s ataxia mouse model. Findings show that dysfunctional mitochondria directly contribute to cell death through lipid peroxidation in disease-affected neurons – a degradation of cellular lipids that if prevented,…

NAF Award Given to Researcher Investigating mTOR Pathways in Friedreich’s Ataxia

The National Ataxia Foundation (NAF) has presented a researcher from Belgium, Simona Donatello, with its Young Investigator Research Award for her work on molecular mTOR pathways affecting frataxin expression in Friedreich’s ataxia, possibly unearthing novel drug targets for the treatment of the disease. Dr. Donatello, with  the Universite Libre de Bruxelles, aims to…

Study to Explore Rare Gene Mutation Found in Spinocerebellar Ataxia

A study supported by a research grant from the National Ataxia Foundation (NAF) will explore the underlying mutation of the recently described spinocerebellar ataxia, type 41 (SCA41). In addition to producing new insights into spinocerebellar ataxia mechanisms, the study could contribute to improved diagnostics. Only one case with spinocerebellar ataxia and a…

NAF Supports Study Exploring Mitochondrial Defects in Skeletal Muscle in Cerebellar Ataxia 2

The National Ataxia Foundation (NAF) recently awarded four post-doctoral fellowship grants covering various aspects of ataxia research. In a project focusing on autosomal recessive cerebellar ataxia 2, Pankaj Kumar Singh at the Institut Génétique Biologie Moléculaire Cellulaire, in France, explores how mitochondrial defects contribute to disease mechanisms in…

National Ataxia Foundation Awards Grant to Researcher Exploring Disease Signatures in Stem Cells

The National Ataxia Foundation (NAF) recently awarded four post-doctoral fellowship grants covering various aspects of ataxia research. Magda Matos Santana at the Center for Neuroscience and Cell Biology, in Portugal, was among the recipients, recognized for her exploration of advanced models based on induced pluripotent stem cells (iPSC) of Machado-Joseph disease (MJD)…

Certain Ataxia Mutation to be Researched via NAF Young Investigator Grant

Percy Tumbale, of the National Institute of Environmental Health Sciences, National Institutes of Health recently received a Young Investigator Research Award from the National Ataxia Foundation (NAF), to cover her ongoing research on aprataxin mutations in ataxia oculomotor apraxia 1 (AOA1). Ataxia generally refers to the muscle coordination loss…

Severity of Gene Mutation in Friedreich’s Ataxia Linked in Study to Glucose Tolerance

The severity of abnormal glucose regulation in people with Friedreich’s ataxia (FA) is linked to the extent of their genetic mutation, according to researchers at The Children’s Hospital of Philadelphia — a finding that might deepen understanding of disrupted glucose metabolism in FA patients. The genetic mutation underlying Friedreich’s ataxia is composed of repeats of…

Ride Ataxia’s Kyle Bryant to Be Keynote Speaker at Exposition

The Illinois Biotechnology Industry Organization (iBIO) recently announced that Kyle Bryant, founder and director of Ride Ataxia, Friedreich’s Ataxia Research Alliance, will be one of the keynote speakers for the 2016 iBIO Industry Exposition (iBIO, IndEx) at the Hilton Orrington in Evanston, Illinois, April 19-20. The meeting, whose theme is “Converge to…

New Evidence Shows Involvement of Glial Cells in Friedreich’s Ataxia

Researchers have long known that — due to a genetic mutation —  the levels of the protein frataxin are decreased in Friedreich’s ataxia. Because of the neurological nature of the disease, the effects of the mutation have mainly been studied in neurons within the central nervous system, and not much is known about…