F for Fanconi Anemia – Part I
Fanconi Anemia (FA) is a rare autosomal recessive disorder caused due to mutations in any of the known 23 genes that play a role in the DNA repair pathway. Defect in the DNA repair in all cells of the body results in accumulation of errors in these cells over time, thus making people living with […]
E for Erdheim-Chester Disease- Part II
Diagnosing Erdheim-Chester Disease (ECD), presents significant challenges due to its rarity and varied clinical presentations. Successful diagnosis typically involves integrating descriptive pathology, clinical observations, and radiographic findings. Patients often undergo multiple biopsies, leading to delays in diagnosis and treatment initiation, with the average time from symptom onset to diagnosis ranging from months to years. Determining […]
E for Erdheim-Chester Disease Part-1
Erdheim-Chester Disease (ECD) is an extremely rare multisystem adult-onset histiocytic disorder which is a type of a slow-growing blood cancer. Histiocytes are large phagocytic cells, typically tasked with combatting infections. In this disease, there is an excessive accumulation of histiocytes which infiltrate the body’s loose connective tissue, triggering inflammation and thickening of the affected areas. […]
D for Duchenne Muscular Dystrophy- Part II
One of the most prevalent forms of muscle dystrophy affecting males, Duchenne Muscular Dystrophy (DMD) is a rare progressive muscle wasting disease which leads to challenges with mobility, progressive muscle weakness, respiratory difficulties, and ultimately premature death. There have been significant strides in gene-based treatments aimed at combating DMD as summarized in Figure 1. Among […]
D for Duchenne Muscular Dystrophy-Part I
Although a rare muscle disorder, Duchenne Muscular Dystrophy (DMD) is one of the frequent genetic disorders affecting male births globally. More than 30 different muscle dystrophies are known, of which DMD is classified as Dystrophinopathy, a progressive muscle degeneration disease caused by the deficiency of Dystrophin. DMD is caused due to mutations in DMD gene […]
C For Crigler- Najjar Syndrome – Part II
Crigler-Najjar Syndrome (CNS) is often characterized by jaundice at birth leading to kernicterus in which the accumulated unconjugated bilirubin reaches the brain and affects the nervous system. With the elevated unconjugated bilirubin levels, the primary therapeutic goal is to reduce the blood bilirubin to prevent kernicterus development. Phenobarbital is often given to patients with type […]
C For Crigler-Najjar Syndrome
Crigler-Najjar Syndrome (CNS) is a rare, autosomal inherited disorder characterized by a loss or deficiency of the liver enzyme Uridine Diphosphate glucuronosyltransferase (UGT), resulting in the inability to convert and clear bilirubin from the liver. Bilirubin is an orange-yellow pigment produced by the normal breakdown of worn-out RBCs, by a process called hemolysis. To be […]
B for Beta Thalassemia – Part II
Treatment options for Beta Thalassemia involve alleviating symptoms, managing complications, and improving quality of life. The specific treatment approach depends on the type and severity of Thalassemia. Standard therapy for this disease includes repeated lifelong blood transfusions to compensate for the lack of enough functional red blood cells. Patients with transfusion-dependent Thalassemia (TDT)require transfusions every […]
B for Beta Thalassemia
Beta Thalassemia (BT) is an inherited autosomal rare recessive blood disorder caused by reduced levels of functional hemoglobin (Hb), the red iron heavy oxygen-carrying pigment of the blood. Hemoglobin is a tetramer of globin chains each bound to a heme group which is bound to iron which accommodates oxygen. The four types of globin chains […]
A for Acromegaly – Part II
On March 5th, 2024, Camurus AB, a Swedish biopharmaceutical company, announced FDA approval for the review of their New Drug Application (NDA) for OclaizTM (CAM2029) for the treatment of Acromegaly. The FDA has also set a Prescription Drug User Fee Act (PDUFA) target action date for October 21, 2024. The NDA submission is supported by […]
A for Acromegaly – Part I
Acromegaly is a rare, acquired and slowly progressive condition caused by excessive production of growth hormone (GH) by the pituitary gland, due to the presence of a “pituitary adenoma”, a benign tumor. The pituitary gland is a pea-sized endocrine gland located at the base of the skull, in charge of producing several essential hormones and […]
Care For Rare: Prologue
What are rare diseases? Being unique isn’t easy and Rare Diseases due to their low prevalence have not been an exception. In a law passed by the United States Congress in 1983 called the Orphan Drug Act, Rare Diseases are defined as conditions affecting less than 200,000 people in the United States. In contrast, the […]
Care For Rare! – Celebrating Rare Disease Day
MedNess is proudly celebrating the Rare Disease Day today. We also take this opportunity to announce a new column “*Care For Rare!*” on the MedNess platform by our newest author, Malini Gupta, PhD! We will come back tomorrow with more info on Malini, her educational background and her interest, but in the meantime, we hope […]
