Shots:
Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic condition that affects approximately 1 in 250,000 Americans. It is characterized by the presence of two genetic mutations that lead to extremely high levels of LDL cholesterol.
In this interview, Sam Gidding and Allison Jamison from the Family Heart Foundation/ emphasize the critical need for enhanced…
Shots:
Fabry disease is a rare inherited neurological disorder that affects the body's ability to break down lipids into smaller components
In this reprise of our Disease of the Month report, we bring an illuminating account of Fabry Disease with deep dive analysis of epidemiology, market size, disease management, available therapies, patient advocacy groups, and…
Shots:
A rare autoimmune condition, Sjögren’s Syndrome is characterized by dry mouth and eye. The condition affects 0.5 to 1% of the global population of which 90% of patients are women
In this reprise of our Disease of the Month report, we bring an illuminating account of Sjögren’s Syndrome with deep dive analysis of epidemiology, market size, disease management, available therapies, patient…
Shots:
Often, patient care focuses solely on therapeutics, but with rare diseases like hATTR amyloidosis, integrating holistic care for patients is crucial to ensure patients fully live their lives
In an enlightening conversation with PharmaShots, Thirusha Lane shares the highlights of the recommendations developed by the international panel of patient advocates and HCPs for people…
Shots:
Coralie started by giving a brief introduction about Systemic Mastocytosis (SM), a rare disease. She told us that in Europe, approximately 40,000 people live with SM, with 80-90% living with Indolent SM and the rest with Advanced SM
She then gave an overview of the P-II PATHFINDER study evaluating avapritinib. The study's 2-year follow-up…
Shots:
With the healthcare sector moving ahead with its technological advances, there is still an unexplored section in therapeutics that requires much more attention. Through innovations, life science companies have evolved to make breakthrough discoveries in many focus areas, but when it comes to the rare disease segment, all our endeavors seem to be bleak…
Shots:
Abdul spoke about the launch of a digital exhibition ‘Shine a light’ to raise awareness about rare diseases
Abdul also emphasized the significance of this awareness campaign for the patients who were unaware of X-linked Hypophosphataemia(XLH)
The interview provides a profound understanding of Kyowa Kirin's initiatives to help patients suffering from XLH
Smriti: Can we…

