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34 results about "Prader�Willi syndrome" patented technology

A genetic disorder that affects many parts of the body and their growth.

Molecular combination probe for diagnosing and screening chromosome microdeletion syndrome

The invention belongs to the technical field of biology, and particularly relates to a molecular combination probe for diagnosing and screening chromosome microdeletion syndrome. The molecular combination probe is used for selecting the key gene of the Williams syndrome, the 22q11 microdeletion syndrome, the Prader-Willi syndrome, the Angelman syndrome, the 15q13.3 microdeletion syndrome and the Rett syndrome, or the gene within a critical area, or the gens arranged at two ends within a duplication / deletion fragment, selecting the sequence which meets a corresponding condition as a probe sequence according to the sequence of the gene, and adding a general primer sequence and adding a phosphorylation mark to the 5'end of a probe left-half sequence and the 3'end of a right-half probe to prepare the combination probe for the multiple continuous probe amplification technology. According to the combination probe provided by the invention, the defects of the fluorescent quantitative PCR (polymerase chain reaction) can be overcome, a plurality of sequences can be analyzed for once, and the molecular combination probe is higher in resolution ratio, sensitivity and repeatability. The probe can be used for the clinical molecular diagnosing and screening of the six-chromosome microdeletion syndrome.
Owner:FUDAN UNIV

Desacyl ghrelin antibodies and therapeutic uses thereof

A neutralizing epitope is identified within amino acids 1-3 of desacyl ghrelin. Antibodies that bind this epitope fall within the scope of the invention and can be murine, chimeric, or humanized antibodies, immunoconjugates of the antibodies, or antigen-binding fragments thereof. The antibodies of the invention are useful for the treatment or prevention of obesity and related disorders including, for example, Type II non-insulin dependent diabetes mellitus (NIDDM), Prader-Willi syndrome, eating disorders, hyperphagia, and impaired satiety. Additionally, such antibodies can be useful for the treatment or prevention of other disorders, including anxiety, gastric motility disorders (including e.g., irritable bowel syndrome and functional dyspepsia), insulin resistance syndrome, metabolic syndrome, dyslipidemia, atherosclerosis, hypertension, hyperandrogenism, polycystic ovarian syndrome, cancer, and cardiovascular disorders by administering a therapeutically effective amount of an anti-desacyl ghrelin monoclonal antibody of the invention.
Owner:ELI LILLY & CO

Diaminopyrimidine derivatives as selective growth hormone secrectgogue receptor (GHS-R) antagonists

The present invention is related to compounds of formula (I), or a therapeutically suitable salt or prodrug thereof, the preparation of the compounds, compositions containing the compounds and the use of the compounds in the prevention or treatment of disorders regulated by the action of ghrelin receptor, including Prader-Willi syndrome, eating disorder, weight gain, weight-loss maintainance following diet and exercise, obesity and disorders associated with obesity such as non-insulin dependent diabetes mellitus.
Owner:XIN ZHILI +5

Method of treating melanocortin-4 receptor pathway-associated disorders

The disclosure is related to a method of treating a disorder, such as Prader Willi Syndrome (PWS), obesity or hyperphagia, in a subject using a melanocortin-4 receptor (MC4R) agonist. Also described is method of treating a subject having a deficiency in the pro-opiomelanocortin (POMC)-MC4R pathway, such as a POMC-null or a PCSK-null subject, using a MC4R agonist.
Owner:RHYTHM PHARMA +1

Methods for treating subjects with prader-willi syndrome or smith-magenis syndrome

ActiveUS20160136178A1Quality improvementIncreasing lean body massPeptide/protein ingredientsMetabolism disorderDiseaseSmith–Magenis syndrome
Provided are immediate or prolonged administration of certain potassium ATP (KATP) channel openers, optionally in combination with growth hormone, to a subject to achieve novel pharmacodynamic, pharmacokinetic, therapeutic, physiological, metabolic and compositional outcomes in the treatment of diseases or conditions involving KATP channels. Also provided are pharmaceutical formulations, methods of administration and dosing of KATP channel openers that achieve these outcomes and reduce the incidence of adverse effects in treated individuals. Further provided are methods of co-administering KATP channel openers with other drugs (e.g., in combination with growth hormone) to treat diseases of humans and animals (e.g., Prader-Willi Syndrome (PWS), Smith-Magenis syndrome (SMS), and the like.
Owner:ESSENTIALIS INC
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