Better definition could lead to better diagnosis and treatment for rare diseases that cumulatively affect millions
Thousands of rare diseases cumulatively affect millions of people across the globe, yet because each case is so rare doctors struggle to accurately diagnose and effectively treat individual patients. Every time a patient with an unspecified disorder walks into a new clinic or shows up in an emergency room, doctors must start from scratch. The patients often go through years of such experiences before they ever get a diagnosis.
Scientists believe they’ve hit upon a way to get a handle on this problem.
In a commentary published this month in the journal Nature Reviews Drug Discovery, an international team of data scientists and rare disease specialists write that they’ve come up with a way to characterize and define diseases so that they eventually would be sharable among physicians across the globe. For years, patient advocacy groups and regulators have often cited an estimate that there are roughly 7,000 “rare” diseases, however the new research suggests this number may be undercounting by thousands.
“This preliminary analysis suggests that there could be a substantially higher number of rare diseases than typically assumed … with obvious implications for diagnostics, drug discovery and treatment,” they write.
The scientists call for a coordinated effort to better define rare diseases so that clinicians can effectively diagnose and treat patients.
The reason: Doctors can’t successfully treat what they can’t recognize. The lack of agreement and imperfections in current rare disease definitions also affect research on rare disease mechanisms and potential therapies.
“Most of these diseases they’ll never see again in their lifetime,” said lead author Melissa Haendel, Ph.D., associate professor of medical informatics and clinical epidemiology in the Oregon Clinical and Translational Research Institute (OCTRI). “If we can’t count them, that means we also can’t define them, and therefore we can’t adequately diagnose them.”
Researchers estimate that as much as 10% of the world’s population suffers from a rare disease, translating into hundreds of millions of people. Yet the inability to reliably diagnose a specific rare disease hinders doctors’ ability to treat individual patients and researchers’ ability to develop effective treatments.
Haendel wrote the commentary with 18 co-authors from the United States, Australia, France and Germany. In it, the authors call upon the World Health Organization, the U.S. Food and Drug Administration, the European Medicines Agencies, the National Academy of Medicine and other entities to adopt a unified definition of rare disease.
The Latest Google Headlines on:
[google_news title=”” keyword=”rare diseases” num_posts=”10″ blurb_length=”0″ show_thumb=”left”]
The Latest Bing News on:
- Student with rare disease to stay in UK after immigration battleon December 1, 2023 at 4:56 pm
which is used in Scotland to treat the disease. An annual course of migalastat treatment can cost £210,000, according to the Scottish Medicines Consortium. It added: "Undoubtedly, the absence of his ...
- 7-year-old Bucks County girl with rare disease enjoys holidays for first time thanks to new medicationon November 30, 2023 at 4:44 pm
New research is allowing the family to enjoy the holiday with their little girl like they never have before. It's the first holiday that 7-year-old Emma Watson has known and enjoyed. "It's like we're ...
- Beyond the Diagnosis: Putting a face to children with rare diseaseson November 30, 2023 at 2:30 pm
Shining a spotlight on children with rare diseases. An art exhibit does that, putting a human face to the 7,000 rare diseases.
- Why Is This Rare Disease-Focused Soligenix Stock Trading Over 200% Today?on November 30, 2023 at 9:07 am
Rare disease Behçet's disease impacts around 1 million people worldwide. Behçet disease is a rare vasculitic disorder that can affect small, medium, and large vessels and is characterized by a ...
- NCDC forms permanent committee for genetic testing of rare diseaseson November 29, 2023 at 9:15 am
The National Center for Disease Control (NCDC) has formed a permanent committee for genetic testing and treatment of rare diseases in Libya. In a meeting, the NCDC discussed the tasks assigned to the ...
- Rare disease patients across Spain don’t have the same access to treatmentson November 29, 2023 at 7:04 am
Access to quick and accurate diagnosis and affordable drugs in Spain varies across the regions and depending on patients’ economic status.
- Unlocking resources and hope for patients with rare diseases through practical policyon November 29, 2023 at 2:00 am
Some believe a recent legislation update proposal will undermine access to medicines for millions of Europeans suffering from rare diseases by ...
- Babies with rare disease to survive past first birthday with new drug available on NHSon November 26, 2023 at 11:01 pm
Babies with a rare and fatal disease will be able to live past their first birthday thanks to a new drug available on the NHS.
- New Campaign Celebrates Canadian Rare Disease Changemakerson November 20, 2023 at 6:05 am
At the forefront, are a group of Changemakers who represent the diverse make-up of the rare diseases' community. They are patients, caregivers, clinicians, and advocates, who stand together to ensure ...
The Latest Google Headlines on:
[google_news title=”” keyword=”disease definition” num_posts=”10″ blurb_length=”0″ show_thumb=”left”]
The Latest Bing News on:
- Liver microRNA transcriptome reveals miR-182 as link between type 2 diabetes and fatty liver disease in obesityon December 1, 2023 at 8:52 am
Liver biopsies from age- and gender-matched obese individuals with (n=20) or without (n=20) T2D were used for microRNA microarray analysis. The candidate microRNA and target genes were validated in 85 ...
- Access to oxygen therapy in Canada: When does breathing become a human right?on November 30, 2023 at 8:03 am
Roughly 30,000 Canadians are living with pulmonary fibrosis (PF), a disease that causes lung scarring so severe it can make the simple act of breathing a challenge. And many pulmonary fibrosis ...
- Lyme disease aftercare: new insights into persistent symptomson November 29, 2023 at 2:32 pm
Study explores the causes of persistent symptoms after Lyme borreliosis (LB) treatment, revealing that factors like social and physical functioning, psychological distress, and comorbidities are key ...
- Pharmaceutical reform poses challenges for innovation in undiagnosed diseaseson November 29, 2023 at 8:23 am
The European Commission's proposed pharmaceutical reform could impact innovation in treating rare or undiagnosed diseases in Europe, industry representatives and patient associations told EFE.
- What to know about disease-modifying therapyon November 28, 2023 at 4:00 pm
Disease-modifying therapies (DMTs) are treatments for people with certain types of multiple sclerosis (MS). They target and suppress certain parts of the immune system to prevent MS from worsening ...
- Liver Disease Newson November 27, 2023 at 4:00 pm
Women Who Consumed Sugar Sweetened Beverage Daily Had Higher Risk of Developing Liver Cancer and Chronic Liver Disease Aug. 8, 2023 — Approximately 65% of adults in the United States consume ...
- Cheaper Made-in-India drugsto treat extremely rare diseaseson November 24, 2023 at 5:15 pm
The decision is likely to drop prices of treatment anywhere between one-tenth and one-hundredth of current market costs ...
- GREG GUTFELD: Trump derangement syndrome evolved into a diseaseon November 22, 2023 at 9:20 pm
FOX News host Greg Gutfeld claims the legacy media and Democratic Party's "Trump derangement disease" is running rampant on "Gutfeld!" ...
- Mahvash Disease Case Resolved With Liver Transplantationon November 22, 2023 at 2:07 pm
"For this patient, liver transplantation represented a form of curative 'surgical' gene therapy," Mistry and Garcia‐Tsao concluded. "Thus, deft management of this patient's Mahvash disease is akin to ...
- What To Do When Someone With Alzheimer’s Disease Wanderson November 21, 2023 at 6:43 pm
Prevention and preparation can help you keep your loved one safe November 21, 2023 – The definition of wandering varies from context to context. Technically, wandering is an umbrella term for several ...