What is a rare disease?
A rare disease, also known as an orphan disease, is a medical condition that affects a small number of people. In most countries, a disease is considered rare when it affects fewer than 1 in 2,000 individuals. However, this definition may vary from country to country.
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Rare diseases can be genetic, meaning they are caused by an alteration or mutation in a person’s genes, or they can be acquired later in life due to infections, environmental factors, or other causes. These conditions are often chronic, progressive, and potentially life-threatening. They can have a wide range of symptoms and affect various organs and systems in the body.
Examples of rare diseases
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1. Hutchinson-Gilford progeria syndrome: This rare genetic disorder causes rapid aging in children, resulting in a variety of health issues.
2. Fibrodysplasia ossificans progressiva: A condition in which soft tissues progressively turn into bone, resulting in loss of mobility and a second skeleton.
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3. Stiff person syndrome: A neurological disorder characterized by muscle stiffness and spasms that can lead to difficulty moving or walking.
4. Prader-Willi syndrome: A complex genetic disorder that affects various aspects of physical and mental development, including compulsive overeating and obesity.
5. Harlequin ichthyosis: A severe genetic skin disorder that causes the skin to become thick, dry, and scaly, resulting in deep cracks and deformities.
6. Alice in Wonderland syndrome: A neurological condition characterized by a distorted perception of the body or surrounding objects, often leading to a sense of size distortion and hallucinations.
7. Auto-brewery syndrome: A rare condition in which the body ferments carbohydrates into alcohol, leading to symptoms similar to being intoxicated even without consuming alcoholic beverages.
8. Alien hand syndrome: A neurological disorder in which a person’s hand shows autonomous, involuntary movements that are sometimes contradictory to their intentions.
9. Polyglandular autoimmune syndrome: A group of rare autoimmune disorders that affect multiple endocrine glands and lead to hormonal imbalances.
10. Cotard’s syndrome: Also known as “walking corpse syndrome,” this rare psychological disorder causes sufferers to believe that they are dead or do not exist.
Challenges of rare disease research
According to the Genetic and Rare Diseases Information Center, rare diseases are estimated to affect over 30 million people in the United States. Since individual rare diseases affect a small number of people, there is limited knowledge about their causes, diagnosis, treatment, and potential cure. This can lead to delayed or incorrect diagnosis, lack of effective treatments, and limited support or resources for patients and their families.
Due to their rarity, rare diseases often face challenges in research funding, clinical trials, and access to specialized healthcare services. Efforts are being made globally to raise awareness about rare diseases, improve diagnostics and therapies, and provide support to patients and families affected by these conditions.
One of the biggest hurdles in treating rare diseases is accurately diagnosing them. Many of these conditions have nonspecific symptoms that overlap with more common illnesses, leading to misdiagnosis and delayed treatment. Therefore, diagnostic development for rare diseases is needed, aiming to provide fast and reliable strategies for disease identification and detection. To improve the diagnostic efficiency and accuracy of rare diseases, a variety of cutting-edge technologies led by high throughput next-generation sequencing technology have been introduced into the diagnosis of rare diseases, which not only deeply explore the genetic pathogenesis, but also provide new ideas and directions for treatment and research.
Following with the early detection and diagnosis of rare diseases, the next step is developing effective treatments. Excitingly, recent advancements in gene engineering and drug R&D have led to the development of rare disease gene therapy and small-molecule drugs. Commonly, gene engineering technologies used in gene therapy include CRISPR/Cas9, zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALEN), and meganucleases. These technologies offer hope to accelerate the research and development of rare disease therapies.
Developing rare disease drugs is a complex and challenging process that often requires collaboration between researchers, pharmaceutical companies, and regulatory agencies. Usually, the drug development process of small molecule drugs includes identification and validation of initial targets, screening of lead compounds, method development and modeling, pharmacokinetic characterization, preclinical safety assessment, selection of preclinical drug candidates, and clinical studies. However, due to the small number of rare disease patients, traditional drug development approaches may not be economically viable.
To address this issue, researchers have turned to innovative strategies, such as repurposing existing drugs, using artificial intelligence to screen potential compounds, and partnering with CRO companies working on rare disease research. By leveraging these approaches, the drug development process for rare diseases can be expedited, bringing more much-needed information for pharmaceutical firms to transform preclinical endeavors into clinical use. Despite the obstacles, the collective efforts of the medical and scientific communities continue to make strides in providing hope and relief for individuals suffering from rare diseases.
Protheragen, a leading CRO in rare disease research, is proud to announce the launch of its groundbreaking disease model development platform. This platform is specifically designed to develop 2D cell culture, 3D organoid, and animal models to accelerate research and therapy development for rare diseases. This state-of-the-art platform combines cutting-edge technology, extensive biological data, and unparalleled expertise to empower researchers and pharmaceutical companies in their quest to discover effective therapies for underserved patient populations.
In the ever-evolving landscape of biomedical research, the need for innovative solutions to tackle rare diseases has never been more pressing. According to the National Organization for Rare Disorders (NORD), there are over 7,000 rare diseases affecting approximately 30 million Americans alone. The majority of these conditions lack effective treatment options, primarily due to the challenges in understanding their underlying mechanisms. In a groundbreaking move, Protheragen, a trailblazer in rare disease research, has unveiled its new disease model development platform aimed at revolutionizing research and development in the realm of rare diseases.
Protheragen can provide rare disease model generation, validation and characterization, drug screening, and efficacy testing for drug development researchers, all to support the therapeutic research and development for rare diseases. No matter the types of rare disease models, e.g. 2D cell culture, 3D organoid, or animal models, Protheragen has the models covered! Its model development services aim to bridge the gaps between lab research and real-world treatment by providing a robust framework for modeling diseases, identifying potential therapeutic targets, and validating novel treatment approaches.
In addition to developing rare disease models, Protheragen also provides comprehensive orphan disease research services including drug safety evaluation, drug repurposing, artificial intelligence services, and therapeutic development solutions. As a CRO company long engaged in rare disease research, Protheragen has built a robust network of partnerships with academic institutions, pharmaceutical companies, and biotechnology firms to support this effort and improve research outcomes.