Hach.Life

09/26/2023

The World Health Organization (WHO) defines Rare disease as a disorder which affects less than 6.5 to 10 per 10,000 people (Rabiei). In the European Union, the definition narrows down to 5 in 10,000 people, while in the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. By these definitions there are more than 6800 (“Rare Diseases”) rare diseases.

While the exact cause for most rare diseases are not known, several of these are usually traced to mutations in a single gene, which would essentially be passed down from one generation to the next. That is the reason we see these rare diseases running in families.

Diagnosis and treatment of rare diseases have come a long way in the last two decades. However, rare disease research and treatment still faces certain challenges. Help Hach expedite the clinical trials and treatments for the rare diseases.

09/13/2023

a short discussion about how focusing on research barriers that are common to many rare diseases can help speed the development of treatments for multiple diseases. The discussion focuses on NCATS-led Platform Vector Gene Therapy program (PaVe-GT), which aims to increase the efficiency of gene therapy trial startup by using a standardized process.
https://lnkd.in/giqYYhUv

This link will take you to a page that’s not on LinkedIn

08/13/2023

The use of digital outcome measures for motor function outside the hospital setting is a promising avenue for research and clinical trials in rare neurological disorders. Wearable sensors are potentially identifying comprehensive and more accurate changes in symptom severity over time.

Clinical trials are the gold standard for testing whether a potential treatment works or not. In 2011, there were two published studies that included digital outcome measures, whereas in 2022 there were 25, noting that this increase reflects growing interest in the field.

Future research should focus on the systematic validation leading to the qualification of devices, variables, and algorithms to allow remote evaluation and clinical trials.

https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02813-3

Encompassing all aspects of rare diseases and orphan drugs, Orphanet Journal of Rare Diseases features high quality reviews and original articles in ...

06/02/2023

Did you know that rare diseases collectively impact more than 300 million people worldwide? That's a staggering number, highlighting the need for increased awareness, support, and research in this field. Join us in raising awareness about rare diseases, advocating for improved resources, and fostering a greater understanding of the challenges faced by those living with these conditions. Together, we can make a difference.

05/22/2023

Precision medicine is transforming the landscape of rare disease treatment. By tailoring therapies to the unique genetic profiles of individuals, precision medicine holds immense promise for improved outcomes and personalized care. Recent advancements in targeted therapies and gene therapies are paving the way for transformative treatments for individuals with rare diseases. Let's celebrate these achievements and continue to support research and innovation in precision medicine.

The new 'mini gene therapy' is developed to increase the production of a crucial protein that is responsible for the deafness and progressive vision loss associated with Usher 1F. This research marks a significant step towards the development of a treatment for Usher 1F blindness, which currently has no cure.

Researchers have developed a "mini gene" therapy for a debilitating syndrome that results in both blindness and deafness. Usher Syndrome type 1F is a rare, debilitating genetic disorder characterized by deafness, impaired balance, and the gradual deterioration of vision. Now, a team of researche

05/18/2023

Hope in the face of rare diseases: Breakthroughs in gene therapies are revolutionizing treatment options for individuals with specific genetic conditions. By targeting the underlying genetic causes of rare diseases, gene therapies hold immense promise for long-lasting and potentially curative treatments. As we witness the remarkable progress in this field, let's support continued research, access, and affordability of gene therapies for all individuals who can benefit from them. Lets support the clinical trial for these 8 rare diseases and hope to have other diseases prioritized soon.

As ASGCT 2023 kicks off in Los Angeles, a consortium from the FNIH tackles the rare disease space with a new clinical trial portfolio.

05/15/2023

Rare diseases' trials to approval path should be expedited. Lives are precious.
First Enzyme injection showed promising results in 1973 & was approved in the US in 1991 for Gaucher Disease (SN: 11/23/74; SN: 5/25/91). https://lnkd.in/d4Jj4CuK

Enzyme replacement therapy for Fabry’s disease followed in 2003. Still pending approval
In 2022, treating a fetus for Pompe disease was successful under the trails. Still pending approval
https://lnkd.in/ggX6q5q6

Babies born with infantile-onset Pompe disease typically have enlarged hearts and weak muscles. But 1-year-old Ayla has a normal heart and walks.

05/14/2023

Whiffing menthol could s***f out symptoms of Alzheimer’s disease: Inhaling menthol might possibly stave off the devastating memory loss and mental decline associated with the most common form of dementia. This study is an important step toward understanding the connection between the immune system, the central nervous system and smell, as the results suggest that odors and immune modulators may play an important role in the prevention and treatment of Alzheimer’s and other diseases related to the central nervous system,

A new study reports something strange: When mice with Alzheimer's disease inhale menthol, their cognitive abilities improve.

05/13/2023

Sarepta’s DMD Gene Therapy:

The open public hearing is scheduled to run an average amount for a neurodegenerative advisory committee . Accelerated approval seems imminent after a majority of the US FDA’s Cellular, Tissue and Gene Therapies Advisory Committee voted the risk-benefit balance supported it.

Advisers to the U.S. Food and Drug Administration on Friday narrowly recommended that the agency grant accelerated approval to Sarepta Therapeutics Inc's first-of-its-kind gene therapy for Duchenne muscular dystrophy (DMD).