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Understanding Osteopetrosis: Causes, Symptoms, Diagnosis, and Treatment

Osteopetrosis is a rare bone disorder that occurs due to defects in osteoclast formation and function. Read more here. ....

Costa Rica , Danielle Ellis , Crevis Shutterstock , Puwadol Jaturawutthichai Shutterstock , Image Credit , Middle East , Chuvash Republic ,

Research provides new insights into the underlying disease mechanisms for polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially lethal genetic disease-;about a half million people in the United States alone suffer from the condition. ....

United States , Laura Onuchic , Michael Caplan , Emily Henderson , Stefan Somlo , Nature Communications , Yale Department Of Cellular Molecular Physiology , Yale Department , Molecular Physiology , Long Professor , Industry Focus , Volkswagen Beetle , Nicotinamide Nucleotide Transhydrogenase , Kidney Disease , Polycystic Kidney Disease , Amino Acid , Cell Biology , Gene Therapy , Ouse Model ,

POXEL SA: Poxel Announces Publication in Kidney International of PXL770 Preclinical Results in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Results support the development of PXL770 in a Phase 2 clinical program for ADPKD Regulatory News: POXEL SA (Paris:POXEL) (Euronext: POXEL FR0012432516), a clinical stage biopharmaceutical company ....

United States , Arthur Rouill , Dennis Riedl , Sumitomo Pharma , Davide Moller , Kidney International , Autosomal Dominant Polycystic Kidney , Executive Vice President , Chief Scientific Officer , Euronext Paris , Relations Communication Senior Director , Vice President , Investor Relations Communication ,

Safety of a gene therapy to treat alpha 1-antitrypsin deficiency

Researchers report on the safety of a gene therapy to treat the common autosomal recessive hereditary disorder alpha 1-antitrypsin (AAT) deficiency in a new article in the peer-reviewed journal Human Gene Therapy. ....

Terencer Flotte , Emily Henderson , University Of Massachusetts Medical School , Human Gene , Weill Cornell Medicine , Isaac Haidak Professor , Medical Education , Executive Deputy Chancellor , Massachusetts Medical , Gene Therapy , Medical School ,

First successful correction of limb length in mouse model of autosomal dominant Robinow Syndrome

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system. ....

United States , Rolf Stottmann , Emily Henderson , Lab Diagnostics , Van Andel Research Institute , Nationwide Children , Robinow Syndrome , Automation Industry Focus , Professor Stottmann , Cleft Palate , Ouse Model , Robinow Syndrome ,