Posts by: Magdalena Kegel

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.

January 9, 2018

Early Loss of Cerebellar Mitochondria May Drive Disease in FA, Mouse Study Suggests

News

The production and function of mitochondria — cellular power plants that convert nutrients to energy — is impaired in the cerebellum of the brain in early stages of a Friedreich’s ... Read more

January 4, 2018

Frataxin Gene Mutations Often Become Worse as Patients Age, Study Finds

News

In patients with Friedreich’s ataxia, the severity of the mutation in the frataxin gene may become worse over time, according to a study published in the journal PLOS ONE. ... Read more

November 21, 2017November 21, 2017

Lab-Grown Sensory Neurons May Be Used to Study Friedreich’s Ataxia, Researchers Say

News

Sensory neurons derived from patients with Friedreich’s ataxia may be a valuable model for studying disease processes and test new treatments, researchers from the Université Libre de Bruxelles in ... Read more

November 9, 2017

Biomarin Advances Compound for Human Friedreich’s Ataxia Trials

News

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 ... Read more

October 5, 2017October 5, 2017

FA Global Patient Registry Key to Moving Research into Treatments, FARA Says in Interview

News

Among all efforts made to advance research and treatment development in Friedreich’s ataxia (FA), one stands out: the Friedreich’s Ataxia Global Patient Registry run by the Friedreich’s Ataxia Research ... Read more

September 21, 2017September 21, 2017

Trailblazing Friedreich’s Ataxia Researcher Wins American Chemical Society Award

News

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’ ... Read more

August 29, 2017

Studies of Friedreich’s Ataxia Brain Changes Need to Gain Scale, Review Argues

News

Research into how abnormalities in the large area of the brain are part of Friedreich’s Ataxia disease processes will advance understanding and improve the chances of finding new treatments, ... Read more

August 22, 2017August 22, 2017

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

News

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 ... Read more

May 30, 2017

Brain Structure Abnormalities in Late-onset Friedreich’s Ataxia Not Linked to Disease Features

News

People with late-onset Friedreich’s ataxia have similar, but not identical, abnormalities of brain structures as those who become ill at an earlier age, researchers recently demonstrated. The study sheds ... Read more

May 25, 2017May 25, 2017

Pfizer Seeks Patent Covering a Friedreich’s Ataxia Therapy That Resverlogix Has Already Developed

News

Pfizer is seeking a European patent on a family of compounds that can treat Friedreich’s ataxia by increasing levels of the frataxin protein that is lacking in the disease. It noted ... Read more

April 18, 2017

Gait Speed May Improve Detection of Short-term Disease Progression in Friedreich’s Ataxia

News

Gait speed might be used as an objective measure to assess disease progression in adults with Friedreich’s ataxia who are still able to walk, according to a small study ... Read more

April 13, 2017

HDAC Inhibitors a Promising Treatment Option in Friedreich’s Ataxia, Researchers Suggest

News

A type of compound called HDAC inhibitors show promise as therapy for Friedreich’s ataxia, according to two researchers at The Scripps Research Institute in California. However, current drug candidates need ... Read more

March 28, 2017

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

News

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, ... Read more

March 23, 2017March 23, 2017

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

News

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 ... Read more

March 16, 2017March 16, 2017

Study May Explain Why Only Certain Brain Cells Are Damaged in Friedreich’s Ataxia

News

The selective degeneration of certain neurons in patients with Friedreich’s ataxia may be explained by the effect that the lack of frataxin has on nervous system cells called astrocytes. Researchers ... Read more

March 14, 2017

Case Report of Young Sisters Indicates FA Symptoms Vary Widely

News

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 ... Read more

January 26, 2017

Measuring Mitochondrial Capacity in Friedreich’s Ataxia May Offer Monitoring Possibilities

News

Noninvasive measurements of mitochondrial capacity in skeletal muscle of patients with Friedreich’s ataxia could be used to monitor disease severity and progression, according to a recent study. In contrast, ... Read more

December 13, 2016

Horizon Scraps Actimmune Clinical Program in FA as Trial Failure Becomes Evident

News

Horizon Pharma has dropped its entire Actimmune (interferon gamma-1b) clinical development program in Friedreich’s ataxia following the failure of a Phase 3 trial which aimed to show that the ... Read more

November 29, 2016November 30, 2016

DNA-like Compounds May Lead to New Way of Treating Friedreich’s Ataxia

News

DNA-like compounds that appear to correct the abnormal three-dimensional structures formed in the mutated region of the frataxin gene — the culprit of Friedreich’s ataxia — may open research ... Read more

November 22, 2016November 22, 2016

Stem Cell-Derived Heart Cells Needed to Advance Understanding of Friedreich’s Ataxia Heart Disease

News

Heart cells grown from patient-derived, induced pluripotent stem cells can provide plenty of information about heart disease in Friedreich’s ataxia, a recent review argues, underscoring that such cell models ... Read more

November 15, 2016

Juvenile-onset Friedreich’s Ataxia Patients Have Abnormal Structures Linked to Heart Disease

News

Younger Friedreich’s ataxia patients have an abnormal assembly of heart structures called intercalated discs (ICD) which prevent proper transmission of signals between heart muscle cells and contribute to heart ... Read more

November 3, 2016November 3, 2016

Vitamin B1 Has Potential as Friedreich’s Ataxia Treatment, Study Suggests

News

Injections of vitamin B1 improved several symptoms in patients with Friedreich’s ataxia and kept patients from deteriorating further over a two-year period, according to a recently published study. While ... Read more

October 28, 2016

Speech Characteristics in Friedreich’s Ataxia May Be Markers for Future Clinical Trials

News

While speech difficulties in patients with Friedreich’s ataxia are not linked to the severity of disease, certain speech aspects associated with age at disease onset and disease duration may be valuable ... Read more

October 13, 2016October 13, 2016

Speed of Friedreich’s Ataxia Progression Determined Largely by Age and Genetic Severity, Study Finds

News

The severity of the frataxin mutation, which causes Friedreich’s ataxia (FA), is the main factor determining the speed of the disease’s progression, next to age — a finding that may ... Read more

September 22, 2016

Genetic Switch Model Gives Scientists a Time Window into Friedreich’s Ataxia Development

News

Researchers have created a cell model that will allow the study of molecular changes that result from the loss of the Friedreich’s ataxia (FA) protein frataxin at different time ... Read more

September 8, 2016

Potential New Friedreich’s Ataxia Biomarkers May Aid Future Clinical Trials

News

Researchers report identifying two potential blood biomarkers of Friedreich’s ataxia disease progression and drug response that could be used, in addition to frataxin levels, as tools in future clinical ... Read more

September 6, 2016

Friedreich’s Ataxia Study Suggests Collagen Factor as Biomarker of Heart Disease

News

Friedreich’s ataxia (FA) patients have elevated blood levels of a factor indicating increased collagen production, a finding that researchers could link to remodeling of heart tissue. These findings could ... Read more

July 28, 2016July 28, 2016

Study Unravels Steps in Mutation That Causes Friedreich’s Ataxia

News

Researchers at Weill Cornell Medical College in New York have discovered mechanisms that explain how a mutation in the frataxin gene — the cause of Friedreich’s ataxia — prevents the ... Read more

July 12, 2016July 12, 2016

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

News

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 ... Read more

June 30, 2016June 30, 2016

HDAC Drug for Friedreich Ataxia Can Activate Mutated Frataxin Gene, Restore Function

News

Production of frataxin protein in most Friedreich ataxia patients is blocked by gene mutations that prevent the reading (transcription) of the gene, but new research shows that the obstruction can ... Read more

June 16, 2016June 16, 2016

Mitochondrial DNA in Blood of Friedreich Ataxia Patients May Be a Biomarker, Study Suggests

News

People with Friedreich ataxia have lower than usual levels of cell-free mitochondrial DNA circulating in the bloodstream, but higher levels of nuclear DNA, a finding that might result in new biomarkers to monitor these ... Read more

June 9, 2016June 9, 2016

Glial Satellite Cells in Friedreich’s Ataxia Are Independently Affected by Disease, According to Researchers

News

Although Friedreich’s ataxia is mainly associated with the degeneration of neurons, a recent report shows that glial satellite cells in the spinal cord are also affected by the frataxin ... Read more

June 7, 2016June 7, 2016

Faulty Mitochondrial Process in Friedreich’s Ataxia Described

News

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 ... Read more

May 19, 2016May 19, 2016

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

News

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, ... Read more

May 17, 2016May 17, 2016

Friedrich’s Ataxia Researcher Receives NAF Award for Investigating DNA Repair Genes

News

Among the recently distributed National Ataxia Foundation (NAF) research awards, Ricardo Mouro Pinto, Ph.D., from Massachusetts General Hospital Harvard Medical School, received a Young Investigator Award for his work ... Read more

May 10, 2016May 10, 2016

NAF Seed Award Given to Project Evaluating Neural Stem Cells to Treat a Rare Ataxia

News

The National Ataxia Foundation (NAF), which supports ataxia research, has given a NAF Research Seed Award to Liliana Simões Mendonça from the University of Coimbra, Portugal, for work on the transplantation of ... Read more

May 5, 2016May 5, 2016

Study to Explore Rare Gene Mutation Found in Spinocerebellar Ataxia

Friedreich's Ataxia, News

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 ... Read more

April 28, 2016April 28, 2016

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

News

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 ... Read more

April 26, 2016April 28, 2016

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

News

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 ... Read more

April 24, 2016May 24, 2016

Certain Ataxia Mutation to be Researched via NAF Young Investigator Grant

News

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 ... Read more

April 14, 2016April 14, 2016

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

News

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 ... Read more

March 29, 2016March 29, 2016

Iron-Linked Neurodegeneration May Serve as Friedreich’s Ataxia Biomarker

News

In Friedreich’s ataxia, neurodegeneration related to dysfunctional iron metabolism has been described in the cerebellum – a brain region crucial for movement coordination. A new study, however, shows that ... Read more

March 8, 2016March 8, 2016

FA Study Finds Deletion of Whole FXN Gene Copy in Patient, and Argues for Expanded Genetic Testing

News

Mutations in the FXN gene — responsible for Friedreich’s ataxia (FA) — mainly come in the form of repeats of three DNA bases, GAA, at the start of the gene. Cases where ... Read more

February 16, 2016February 17, 2016

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

News

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 ... Read more

December 16, 2015December 16, 2015

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

News

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 ... Read more