rare disease Articles
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Whole Genome Sequencing for Rare Diseases
The diagnosis and treatment of rare diseases have long been a daunting challenge due to their complex and often undefined nature. However, with recent advancements in technology, specifically in the realm of genomics, whole genome sequencing (WGS) has emerged as a powerful tool that has revolutionized the diagnosis and management of rare diseases. This groundbreaking technique offers hope to ...
By Protheragen
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Karyotype Analysis for Rare Disease
Karyotype analysis refers to the pairing and grouping of chromosomes to reveal whether the organism accords with the inherent chromosomal characteristics, to determine if the organism has chromosomal abnormalities. Karyotype analysis can detect whether there are abnormalities in chromatin length, centromere position, the ratio of long and short arms, and the presence or absence of satellites. ...
By Protheragen
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Innovative Diagnostic Development Urges Rare Disease Therapies
Rare diseases are characterized by their low prevalence, affecting a small number of people across the world. These diseases often come with significant challenges, including accurate diagnosis, availability of effective treatments, and limited resources for research and development. However, recent advancements in diagnostics technology hold promise for speeding up the field of rare disease ...
By Protheragen
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RARE ANSWERS™: A System to Improve Patient Outcomes - Case study
At Alexion, our mission is to transform the lives of people affected by rare diseases and devastating conditions. In addition to developing and delivering life-changing medicines, this mission drives us to seek opportunities to advance innovative solutions to system-wide challenges faced by rare disease patients, such as the “diagnostic odyssey.” What is the Diagnostic Odyssey? ...
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Rare Disease Research: from Diagnostic Development to Small Molecule Drug Development
Rare diseases, also known as orphan diseases, affect a small percentage of the population, making them particularly challenging to diagnose and treat. However, thanks to advancements in medical research and technology, significant progress has been made in the field of rare disease research, from developing accurate diagnostic tools to making effective small-molecule drugs. One of the biggest ...
By Protheragen
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World Rare Disease Day
On February 29 (or the last day of February) we celebrate World Rare Disease Day to raise awareness about these diseases, aiming to improve access to diagnosis, treatment and medical care. What are these diseases? Rare diseases are those that occur infrequently in the general population. In Argentina, “rare diseases” are those whose prevalence in the general population is equal to ...
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Expanding Our Commitment to Rare Disease Therapeutics
Each year, the last day of February serves as a reminder to pause and reflect on the challenges and unique needs of patients and families living with rare diseases. It is an opportunity for all members of the patient, medical, and scientific communities to shine a light on the urgent need to improve the care and support for those impacted by such conditions. At Moderna, we are working to ...
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Development of Gene Therapy Viral Vectors for Rare Diseases
In many cases, gene therapy requires a vector to deliver the gene therapy drug to the target cell. Viral vectors have been one of the most widely studied vectors due to their outstanding transduction efficiency and other significant advantages. Viral vector-based gene therapy has now achieved good clinical results. More than a dozen viral gene therapy products have been approved for the treatment ...
By Protheragen
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Genetic Link to Parkinson`s Disease Is Best Hope for the Future in Rare Disease
Collaboration Announced Between Researchers at University of California Irvine and Population Diagnostics, Inc. at Rare Disease Event in Southern California The Spooner Girls Foundation , University of California, Irvine School of Medicine, (UCI) and Population Diagnostics, Inc. (PDx), announced today a collaborative research initiative focused on the NUBPL gene at the Spooner family’s ...
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Preclinical Animal Models as A Resource to Explore Rare Diseases
Rare diseases, also known as orphan diseases, are a diverse group of disorders that affect a small percentage of the population. Due to their low prevalence and limited understanding, treating and finding cures for these conditions present significant challenges. However, preclinical animal models have emerged as invaluable resources for advancing research and unraveling the mysteries surrounding ...
By Protheragen
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Dr Annalisa Jenkins in conversation with Adam M Hill. `Extra Time` podcast
Annalisa Jenkins' inspirational career spans over 25 years in the global biopharma industry – she started her career at St Barts, in London, where she trained as a cardiologist, before joining the British Royal Navy as a medical officer during the Gulf Conflict, achieving the rank of surgeon lieutenant commander during her time there. Annalisa spent almost two decades producing a pipeline ...
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Delivering a precision medicine programme at scale
The Covid-19 pandemic highlighted the disparity between those who succumbed to severe illness while others remained relatively unaffected, underscoring the urgent need to shift the healthcare industry’s focus from a one-size-fits-all approach to more personalised healthcare. Personalised medicine promises to transform healthcare with treatments tailored to a patient’s unique genetic ...
By Lifebit
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Seascape Clinical Graduates From PharmStars Accelerator
Seascape Clinical was one of 12 companies – selected from nearly 100 global applicants – that participated in the first cohort of the 10-week PharmStars Accelerator Program. This (female founded!) pharma-focused accelerator program was designed to bridge the gaps between pharmaceutical companies seeking innovative solutions, and digital health startup ...
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Drug Repurposing
Drug repurposing – uncovering new uses for already-approved medicines that could benefit patients facing a different need than originally intended – is bringing hope to millions of the desperately ill and their families. This is especially true for those suffering from rare diseases – who can’t wait a dozen or more years for a new treatment to be discovered, developed, ...
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A study of e-discussion within a domain of uncertainty: the case of Tourette’s Syndrome
The growing popularity of the internet has made it easier and faster to find health information on rare and poorly understood disease topics. Much of this information is valuable, though the internet also allows the rapid and widespread distribution of false and misleading information, especially through peer-based networks. Providers frequently advise that it is important for health consumers to ...
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Barbara: CEFALY is a ‘Remarkable Breakthrough’
First Name: Barbara Age: 60 Location: Seattle Occupation: Retired medical assistant How long have you had migraines? I started suffering from migraines as a child. I grew up in the 60’s in Iowa, and at that time my parents nor I knew what migraines were or to seek treatment for such a medical problem as this. When I was 32 years old, I have a vivid memory of having a terrible migraine, ...
By CEFALY
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IPEG 2023: Setting a Foundation for Healthcare Transformation
I recently had the pleasure of attending the IPEG annual meeting in Sorrento, Italy. The collegiality of the surgeons attending the conference was fantastic, and the views of Sorrento and the Island of Capri were stunning. With smaller accessible markets (due to smaller patient volumes and higher incidence of rare disease), specialty areas like pediatrics have been overlooked and under-addressed ...
By Caresyntax
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Has the future of complement therapeutics arrived?
Silence Therapeutics, a pioneer in the development of novel small interfering RNA (siRNA) therapeutics, and Mallinckrodt plc, a global biopharmaceutical company, announced the submission of a clinical trial application (CTA) for SLN501, a siRNA therapy targeting the complement C3 protein, on March 23, 2022. Silence will receive a $3 million milestone payment from Mallinckrodt as a result of the ...
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The Importance of Celebrating Progress for Your Child with Short Bowel Syndrome
“Parent” may very well be the most important and rewarding job title you will ever have. As a parent, you have three primary goals: (1) set a good example, (2) instill important values, and (3) encourage your child’s happiness. Navigating the early stages of child development and care can be both exciting and exhausting. Your precious bundle of joy comes into this world and ...
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The HSV-1 live attenuated VC2 vaccine provides protection against HSV-2 genital infection in the guinea pig model of genital herpe
ABSTRACT Background: Although development of an HSV vaccine is a priority there is currently no vaccine available. The recent failure of subunit vaccines suggest that presentation of more antigens via a live attenuated vaccine may be required for protection. We therefore evaluated VC2. a live attenuated HSV vaccine, engineered to be unable to enter into neuronal axons. Methods: VC2 pathogenesis ...
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