What Is Hemophilia?
New Study Maps A Group Of Rare Genetic Diseases For The First Time
image:
A new study from Aarhus University by PhD-student and MD, Laura Krogh Herlin, maps for the first time a group of rare genetic diseases that falls under the term ectodermal dysplasia. The study demonstrates, among other things, that only 67% of Danish patients diagnosed actually have a congenital ectodermal dysplasia.
view moreCredit: Marie Hald
Behind the term ectodermal dysplasia lies a wide range of genetic disorders that can have a major impact on patients' lives and quality of life. Some cannot sweat, others are born with missing or cone-shaped teeth, while others have very little hair, skeletal deformities, or abnormal nails. A total of 49 diagnoses fall under the term, but until now we have not had an overview of how many Danes actually suffer from an ectodermal dysplasia disorder.
A new study from Aarhus University has for the first time provided an overview of the prevalence of the condition in Denmark, and the study shows that there are fewer patients with ectodermal dysplasia than was previously thought to be the case.
In fact, the study shows that only 67% of Danes registered with an ectodermal dysplasia diagnosis actually have congenital ectodermal dysplasia. And this is one of the reasons why it is important to study these rather rare diseases, says doctor and PhD student Laura Krogh Herlin from the Department of Clinical Medicine at Aarhus University and Department of Dermatology, Aarhus University Hospital, who is one of the researchers behind the study:
"It's important that we don't just study the most common diseases, but also study and learn more about rare diseases. Overall, it is believed that as many as 36 million people in the EU are affected by a rare disease. Even though individuals with ectodermal dysplasia only make up a small part of that number, it's crucial for patients affected by a rare disorder that we gain new knowledge, so we can both diagnose and treat better in the future," she says.
Laura Krogh Herlin's study shows that approximately 1 in 7000 Danes are born with ectodermal dysplasia, but the study has also mapped the key characteristics most often seen in connection with an ectodermal dysplasia diagnosis. This is important knowledge because the diagnoses often involve many disciplines and require collaboration across the healthcare system, she says:
"The study shows that 81% of patients have abnormal teeth, while 59% of patients have skin issues and 27% have nail issues. Approx. 1/3 of patients sweat less than normal, leading to a risk of overheating, e.G., if they have a fever. This means that patients are first seen by a wide range of medical specialists, ranging from dermatologists, paediatricians, dentists and clinical geneticists, who need to be able to work together to help the patients. This is why it's crucial that we map the symptoms they should specifically look for in patients."
With the new study, researchers can now delve even deeper into the conditions and their prognosis, and Laura Krogh Herlin hopes that this will mean both faster diagnoses and better treatment in the future for patients born with ectodermal dysplasia.
"Patients with rare diagnoses often feel left behind due to their disease, and it can take longer to get the correct diagnosis and treatment. Hopefully, population-based knowledge about ectodermal dysplasias will help to ensure that this patient group can also receive fast and good treatment in their encounter with the healthcare system," she says.
FACTSMedical doctor and PhD student, Laura Krogh HerlinDepartment of Clinical Medicine, Aarhus UniversityEmail: Laurakrogh@clin.Au.Dk
Consultant, PhD and Clinical Associate Professor, Mette SommerlundDepartment of Clinical Medicine, Aarhus University and Department of Dermatology, Aarhus University HospitalEmail: mette.Sommerlund@clin.Au.Dk
Method of ResearchSystematic review
Subject of ResearchPeople
Article TitlePrevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark
Article Publication Date13-Mar-2024
Disclaimer: AAAS and EurekAlert! Are not responsible for the accuracy of news releases posted to EurekAlert! By contributing institutions or for the use of any information through the EurekAlert system.
GoFundMe Created For Santa Clarita Child With Rare Genetic Disorder
A GoFundMe has been launched for a Santa Clarita child diagnosed with a rare genetic disease to help fund a clinical trial that hopes to improve his quality of life.7-year-old Brooks has been diagnosed with Metachromatic Leukodystrophy (MLD) since the age of 2.
"Brooks was a vibrant, happy, healthy baby who was crushing all of his milestones. When he was about 16 months old we noticed a slight change to his walking," said Stacey Holbrook, Brooks' mother.
After months of hospital visits and various tests, Holbrook received the devastating diagnosis and Brooks was given less than 5 years to live.
MLD is a rare hereditary disorder that causes fatty cells to build up in the brain, spine, and surrounding nerves. The build-up is caused by a deficiency in an enzyme that normally breaks down those fatty cells. As a result, the brain and nervous system progressively lose function. At this time, there is no known cure, according to the National Library of Medicine.
In October 2018, Brooks underwent a bone marrow transplant using stem cells in an effort to save his brain. While the procedure bought Brooks some time, it ultimately was not a cure.
Dr. Maria Luisa Escolar, Brooks' doctor, leads the Program for the Study of Neurodevelopment in Rare Disorders at the UPMC Children's Hospital of Pittsburgh, and has studied gene therapy for MLD for over 25 years. Initial animal studies showed gene therapy stopping the progression of MLD and improving nerve function.
"Having a child with such immense issues has taken a toll on our family and his three brothers," said Holbrook. "Life revolves around medications three times a day, endless appointments, therapies, medical equipment, bills and the list goes on and on. This clinical trial would give all the families in our position hope."
The GoFundMe has a $350,000 goal. For more information and to donate visit here.
Sponsored Articles Do you have a news tip? Call us at (661) 298-1220, or send an email to news@hometownstation.Com. Don't miss a thing. Get breaking KHTS Santa Clarita News Alerts delivered right to your inbox. Report a typo or error, email Corrections@hometownstation.Com
KHTS FM 98.1 and AM 1220 is Santa Clarita's only local radio station. KHTS mixes in a combination of news, traffic, sports, and features along with your favorite adult contemporary hits. Santa Clarita news and features are delivered throughout the day over our airwaves, on our website and through a variety of social media platforms. Our KHTS national award-winning daily news briefs are now read daily by 34,000+ residents. A vibrant member of the Santa Clarita community, the KHTS broadcast signal reaches all of the Santa Clarita Valley and parts of the high desert communities located in the Antelope Valley. The station streams its talk shows over the web, reaching a potentially worldwide audience. Follow @KHTSRadio on Facebook, Twitter, and Instagram.
Single Genomic Test Promises Accelerated Diagnoses For Rare Genetic Diseases
A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.
Researchers from the Wellcome Sanger Institute, and their collaborators at the University of Exeter and the University of Cambridge, were able to reassess genetic data from nearly 10,000 families from the Deciphering Developmental Disorders study.
In a new study, recently published in Genetics in Medicine, they show for the first time that using exome sequencing—which reads only protein-coding DNA—is as accurate, if not better, than standard microarrays at identifying disease-causing structural genetic variations.
Its adoption offers hope for faster and more accurate diagnoses of rare genetic diseases. It could also deliver substantial cost savings for the NHS, though more training is needed for specialists to generate and analyze the data, say researchers.
Changes in our genetic code can range from single letter changes to the deletion or duplication of larger stretches of DNA. These bigger changes—called copy number variations (CNVs)—can be harder for clinical teams to detect in sequencing data and understand, which is why microarrays are used. While usually harmless, making up one of the major sources of genetic diversity in humans, these large-scale variations can sometimes cause various neurodevelopmental disorders, including Angelman syndrome, DiGeorge syndrome, and Williams-Beuren syndrome.
Currently, children suspected to have genetic diseases arising from these large deletions or duplications of DNA go through a lengthy process of testing and waiting for results from multiple diagnostic approaches, starting with a microarray test before progressing to a broader genome-wide sequencing test—such as exome or genome sequencing. In this new study, scientists set out to develop a single approach to detect these structural changes, using data available from genome-wide exome sequencing assays.
Using data from the Deciphering Developmental Disorders study, the team developed a single-assay approach that combined four algorithms using machine learning methods to analyze exome sequencing data.
Comparison of the new single-assay approach with current standard clinical methods revealed it could reliably detect 305 large-scale pathogenic mutations, including 91 not previously detectable using standard clinical microarrays. The findings suggest it could replace the current methods.
"Using exome sequencing data to detect clinically important large-scale changes, at the same time as small genetic variants, marks a significant step forward in making genetic testing simpler, cheaper and more accessible," says Caroline Wright, professor of genomic medicine at the University of Exeter, and author of the study
"Under the current system, children often endure a lengthy, step-wise process of different genetic tests before reaching a diagnosis. This research brings hope that, in the near future, families might only need one," says Helen Firth, professor of clinical genomics at the University of Cambridge, lead clinician and author of the study.
"We are still learning how large-scale genetic variations impact human health. This study proves that with the right computational methods, a single test can accurately detect them. Our findings support its widespread adoption in NHS clinical practice, and the adequate bioinformatics training to support this," says Professor Matthew Hurles, director of the Wellcome Sanger Institute and senior author of the study.
More information: Petr Danecek et al, Detection and characterization of copy-number variants from exome sequencing in the DDD study, Genetics in Medicine Open (2024). DOI: 10.1016/j.Gimo.2024.101818
Citation: Single genomic test promises accelerated diagnoses for rare genetic diseases (2024, March 28) retrieved 5 April 2024 from https://medicalxpress.Com/news/2024-03-genomic-rare-genetic-diseases.Html
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.
Comments
Post a Comment