22q11.2 Deletion Syndrome – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032


 22q11.2 deletion syndrome (DS 22q11.2), also known by several other names, such as "DiGeorge syndrome" and "velocardiofacial syndrome", is a rare genetic disorder caused by a deletion of the long arm of chromosome 22, specifically at locus q11.2. This deletion is most commonly a 3 million base pair deletion caused by non-allelic meiotic recombination during ovogenesis or spermatogenesis. In most cases, there are no other cases in the family (de novo), but in about 10% of cases, the syndrome is inherited from a parent. The risk of recurrence between siblings in a de novo case is 2–3% due to low-grade parental germline mosaicism. Affected individuals have a 50% risk of having an affected child. The TBX1 gene is one of the main genes involved in the typical abnormalities associated with the disorder, including the development of the bone structure of the face and neck, the development of large arteries, the structure of the ears, and the development of the thymus and parathyroids. The CRKL gene is also involved. The clinical manifestations include congenital heart defects, chronic infections, developmental and speech delays, learning deficits, and behavioural abnormalities. The diagnosis can be made by detecting cardiac anomalies by ultrasound or genetic testing. The differential diagnoses for this disease include the Smith–Lemli–Opitz, CHARGE, Alagille, VATER and Goldenhar syndromes and isotretinoin embryopathy, as these rare diseases have clinical links with 22q11.2 deletion syndrome. The prognosis of 22q11.2 deletion syndrome is variable and will depend on the severity of the disorder. In infant patients, mortality is relatively low (around 4%), and in adults, mortality is higher than in the general adult population. There is currently no curative treatment for this disease.

·       The prevalence of 22q11.2 deletion syndrome is 1 per 4000 live newborns, and males and females are equally affected by 22q11.2 syndrome.

Thelansis’s “22q11.2 Deletion Syndrome Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2021 To 2032" covers disease overview, epidemiology, drug utilization, prescription share analysis, competitive landscape, clinical practice, regulatory landscape, patient share, market uptake, market forecast, and key market insights under the potential 22q11.2 Deletion Syndrome treatment modalities options for eight major markets (USA, Germany, France, Italy, Spain, UK, Japan, and China).

KOLs insights of 22q11.2 Deletion Syndrome across 8 MM market from the centre of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future treatment paradigm, and Unmet needs.

22q11.2 Deletion Syndrome Market Forecast Patient Based Forecast Model (MS. Excel Based Automated Dashboard), which Data Inputs with sourcing, Market Event, and Product Event, Country specific Forecast Model, Market uptake and patient share uptake, Attribute Analysis, Analog Analysis, Disease burden, and pricing scenario, Summary, and Insights.

Thelansis Competitive Intelligence (CI) practice has been established based on a deep understanding of the pharma/biotech business environment to provide an optimized support system to all levels of the decision-making process. It enables business leaders in forward-thinking and proactive decision-making. Thelansis supports scientific and commercial teams in seamless CI support by creating an AI/ ML-based technology-driven platform that manages the data flow from primary and secondary sources.

Read more: 22q11.2 Deletion Syndrome – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032

Comments

Post a Comment

Popular posts from this blog

Acne Vulgaris – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032

Image
  Acne vulgaris, a prevalent pilosebaceous unit inflammatory skin disorder, follows a persistent course. Typically presenting as papules, pustules, or nodules, it primarily occurs on the face but can also impact the upper arms, trunk, and back. The development of acne results from the sebaceous glands' heightened sensitivity to normal androgen levels, aggravated by Cutibacterium acnes (formerly known as Propionibacterium acnes), a bacterial species that triggers inflammation. The pathogenesis of acne vulgaris involves a complex interplay of factors such as the activation of sebaceous glands by androgens, imbalances in the pilosebaceous follicle microbiome, and cellular immune responses. Genetic predisposition and dietary influences also contribute to the condition's onset and progression. The initial stage is the micro-comedo, a small plug primarily composed of corneocytes in the lower follicular infundibulum. Microcomedones evolve into various acne lesions, including closed co...
Read more

Metabolic Syndrome – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2023 To 2033

Image
  Metabolic syndrome refers to a clustering of multiple disorders that collectively increase an individual's susceptibility to atherosclerotic cardiovascular disease, insulin resistance, diabetes mellitus, as well as vascular and neurological complications such as cerebrovascular accidents. The underlying causes of metabolic syndrome typically include excess weight, obesity, a sedentary lifestyle, and genetic predisposition. This syndrome exerts detrimental effects on various body systems. Insulin resistance, a key component of metabolic syndrome, leads to microvascular damage, increasing the risk of endothelial dysfunction, vascular resistance, hypertension, and inflammation of vessel walls. Bariatric surgery is recognized as the most effective standalone therapy for metabolic syndrome. However, patients undergoing this procedure require long-term follow-up to mitigate potential surgical, nutritional, and psychiatric complications. Thelansis’s “Metabolic Syndrome Market Outl...
Read more

Type 1 Diabetes Mellitus (T1D) – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2023 To 2033

Image
  Type 1 Diabetes Mellitus (T1D) is characterized as an autoimmune disorder resulting in the autoimmune destruction of insulin-producing pancreatic beta cells. This condition necessitates life-long insulin replacement, administered through multiple daily insulin injections, insulin pump therapy, or an automated insulin delivery system. The absence of insulin can lead to the development of Diabetic Ketoacidosis (DKA), a life-threatening condition. The most common symptoms associated with this disease are polyuria and polydipsia. Effective management of T1D involves: Multiple daily insulin injections Insulin pump therapy An automated insulin delivery system in conjunction with glucose monitoring Continuous Glucose Monitoring (CGM) is the preferred method. However, all individuals with T1D should be capable of performing Blood Glucose Monitoring (BGM) via capillary blood if CGM is not available. Acute complications of diabetes primarily include hypo...
Read more