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To treat Alzheimer's disease [1] Loqtorzi: To treat recurrent or metastatic nasopharyngeal carcinoma with or following other therapies [1] Ogsiveo: To treat desmoid tumors [1] Pombiliti: To treat late-onset Pompe disease with miglustat [1] Rivfloza: To lower urinary oxalate levels in primary hyperoxaluria type 1 and relatively preserved kidney ...
Exagamglogene autotemcel (Casgevy): treatment for sickle cell disease. [11] Gendicine: treatment for head and neck squamous cell carcinoma; Idecabtagene vicleucel (Abecma): treatment for multiple myeloma [12] Lovotibeglogene autotemcel (Lyfgenia): treatment for sickle cell disease. [11] Nadofaragene firadenovec (Adstiladrin): treatment for ...
Given these parameters, exon skipping can be used to restore an open reading frame by inducing a deletion of one or several exons within the central rod domain, and thus converting a DMD phenotype into a BMD phenotype. The genetic mutation that leads to Becker muscular dystrophy is an in-frame deletion. This means that, out of the 79 exons that ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
The first medication approved to treat seizures associated with CDD is ganaxolone (Ztalmy), approved by the FDA in March 2022 [25] and by the EMA in July 2023. [26] Other efforts to develop small molecule therapeutics for CDD include phase 2 and phase 3 trials already underway or completed, and others in earlier stages of development.
The problem with rare diseases. A genetic mutation disease like HNRNPH2, estimated at about 150 cases globally, lacks enough patients to make finding a cure profitable for pharmaceutical companies ...
Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups. [1] [2] [3] [4]