Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.
The University Hospitals Birmingham in the UK is one of the four centres in the country to run a clinic for patients with Bardet-Biedl syndrome. They’ve recently written an article…
Continue Reading
A Clinic For Patients With Bardet-Biedl Syndrome is Helping Families Connect
Source: Pixabay
This weekend Patient Worthy attended RAREfest, an event held in the UK by the Cambridge Rare Disease Network. It brings together patients and their families, researchers, doctors, and the public to…
Continue Reading
Me, Myself, and Eye: Dan’s Experiences with Two Rare Diseases
This weekend Patient Worthy attended RAREfest, an event being held in the UK by the Cambridge Rare Disease Network to raise awareness and promote discussion around rare disease issues. The…
Continue Reading
Highlights from RAREfest: Cambridge’s Rare Disease Festival
Source: Pixabay.com
Amy Dahm, who currently lives in Washington, DC, was working as a U.S. diplomat when she was diagnosed with Cushing’s syndrome. After receiving life-saving treatment from the National Institutes of…
Continue Reading
Her Rare Condition Revealed his Rare Ability: Amy and Sam’s Service Dog Story
Source: Pixabay.com
Lots of people with both rare and more prevalent diseases are helped by animals, but the terms service animal, emotional support animal, and therapy animal are often misunderstood, and many…
Continue Reading
A Quick Rundown on Service Dogs and Emotional Support Animals
A $1.4 million dollar donation to the University of Massachusetts Medical School will help to fund research into a gene therapy for Tay-Sachs disease as it transitions from pre-clinical to…
Continue Reading
$1.4 Million Donated to Help Bring a Gene Therapy For Tay-Sachs Disease to Clinical Trial
A recent study has looked into the use of video visits with patients by clinicians in Sweden, to try to find out how doctors decide which patients to offer them…
Continue Reading
Video Visits: How Doctors Decide Who to Offer Online Meetings To
In a recent news article, the Northwestern Medicine Feinberg School of Medicine has shared details about an experimental device that may have the potential to dramatically improve the treatment of…
Continue Reading
A Device May Reduce the Uncertainty Around Shunt Failure For Patients With Hydrocephalus
An investigational new drug for bronchopulmonary dysplasia, called CF-MEV-132, has completed pre-clinical in-vivo testing. According to The Cell Factory, who are developing the drug, the potential treatment is now ready…
Continue Reading
A Potential Drug For Bronchopulmonary Dysplasia is Ready For Human Trials, Developers Say
In a recent news release, Moorfields Eye Hospital Dubai outlines how they effectively treated a young girl for Stevens-Johnson syndrome, a rare and chronic disease that affects the eyes. About…
Continue Reading
An 11-Year-Old Girls Treatment for Stevens-Johnson Syndrome
In a recently shared article, the University of Southern California has announced that the United States Food and Drug Administration has approved a high-tech brain scanner at the Keck School…
Continue Reading
The FDA Has Approved USC’s High-Resolution Brain Scanner For Clinical Use
According to a recent article by UMass Medical School, promising new research from scientists at UMass supports the potential of gene therapy as a treatment for amyotrophic lateral sclerosis. The…
Continue Reading
Exciting Results From a Pre-Clinical Gene Therapy Study For ALS
A new study into the potential use of a tau-PET tracer for Alzheimer’s disease has produced promising results. The data was presented at the Clinical Trials on Alzheimer’s Disease Conference,…
Continue Reading
A New Type of Imaging Tool is Being Investigated For Alzheimer’s Disease
A recently published report on neuromuscular disease care outlines the current challenges and future opportunities in diagnosis and treatment. The report, titled ‘Understanding Neuromuscular Disease Care’, was funded by the…
Continue Reading
A Recently Published Report Looks into Neuromuscular Disease Care
The first patient has been dosed in a new clinical trial of an investigational drug for idiopathic pulmonary fibrosis. The drug, called GLPG1205, is being developed by Galapagos, and you…
Continue Reading
The First Patient Has Been Dosed in a Study of a Drug For Idiopathic Pulmonary Fibrosis
A study has found that daytime sleepiness and attention may be correlated in people with narcolepsy and hypersomnia, with patients who self-report feeling more sleepy also being more likely to…
Continue Reading
Research Suggests There May be a Link Between Daytime Sleepiness and Attention
A study has found that more than 80% of participants carrying genes linked to breast cancer didn’t know they had them. The research paper, called ‘Exome Sequencing-Based Screening for BRCA1/2…
Continue Reading
New Research Suggests Many People Aren’t Aware They Carry BRCA Mutations
Acer Therapeutics has submitted a New Drug Application to the United States Food and Drug Administration on behalf of Edsivo™, their experimental treatment for vascular Ehlers-Danlos syndrome. To find out…
Continue Reading
A New Drug Application Has Been Submitted For a Potential Vascular Ehlers-Danlos Syndrome Treatment
A study has found that a class of drugs known as MDM2 inhibitors may have the potential to help patients with ocular inflammation uveitis, a serious condition that affects the…
Continue Reading
A Class of Drugs Called MDM2 Inhibitors May Have the Potential to Benefit Patients With Uveitis
Alnylam has provided updates about their programs for patients with primary hyperoxaluria type 1 (PH1), a rare condition that affects the kidneys and bladder. As part of their Alnylam Act® program,…
Continue Reading
New Updates on Studies of Lumasiran in Patients With Primary Hyperoxaluria Type 1
Late-onset Pompe disease is associated with many features, one of which is a change to the voice, which may be noticeable in speech and voice quality. To investigate how this…
Continue Reading
A Study Investigated the Effects of Late-Onset Pompe Disease on Patients’ Voices
The 2018 Nobel Prize for Medicine was awarded to two researchers working on checkpoint inhibitor therapies for cancer. A source article by AFP, shared by medical express, outlines how checkpoint…
Continue Reading
The 2018 Nobel Prize For Medicine Was Awarded to Two Researchers Working on Checkpoint Inhibitors in Cancers
A study, called ‘Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing’, has examined how often the results of genetic testing for cancer risk are later reclassified. To read about…
Continue Reading
How The Results of Genetic Tests For Cancer Risk May Change Over Time
An enormous anonymous donation of more than $18 million has been given to the BC Cancer Foundation to fund cutting-edge treatments. The news was announced in an article by the…
Continue Reading
An Anonymous Donation of Over $18 Million Will Fund a New Cancer Program at BC Cancer
A study funded by the Lustgarten Foundation, the largest private funder of pancreatic cancer research in America, has shown promising results. The scientists are hopeful that their work could lead…
Continue Reading
Promising Early Results From Research into Pancreatic Cancer