Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.
Model that sheds light on severe Duchenne muscular dystrophy could pave the way for new therapies

Model that sheds light on severe Duchenne muscular dystrophy could pave the way for new therapies

New test to measure expressive language skills of people with Fragile X syndrome

New test to measure expressive language skills of people with Fragile X syndrome

Two common Staph bacteria living on human skin exacerbate Netherton syndrome

Two common Staph bacteria living on human skin exacerbate Netherton syndrome

Plant-based relatives of cholesterol could boost gene-infused nanoparticle delivery

Plant-based relatives of cholesterol could boost gene-infused nanoparticle delivery

Wayne State researchers receive grant to develop new treatments for Barth syndrome

Wayne State researchers receive grant to develop new treatments for Barth syndrome

New study provides clear picture of brain abnormalities associated with schizophrenia

New study provides clear picture of brain abnormalities associated with schizophrenia

New test allows earlier identification of children at risk for cystic fibrosis liver disease

New test allows earlier identification of children at risk for cystic fibrosis liver disease

Holistic and data-driven health assessment can help achieve early disease detection

Holistic and data-driven health assessment can help achieve early disease detection

Healing and hope for families affected by fragile X in Eastern Europe

Healing and hope for families affected by fragile X in Eastern Europe

Researchers find key to preventing muscular dystrophy-related heart disease

Researchers find key to preventing muscular dystrophy-related heart disease

Some genetic sequencing misses out large parts of the genome

Some genetic sequencing misses out large parts of the genome

Precision epigenome editing can repair genetic syndrome of intellectual disability

Precision epigenome editing can repair genetic syndrome of intellectual disability

Hibernators reveal genetic clues to better understand and treat obesity, metabolic disorders

Hibernators reveal genetic clues to better understand and treat obesity, metabolic disorders

CTF, DELopen jointly offer unique opportunities to neurofibromatosis research community

CTF, DELopen jointly offer unique opportunities to neurofibromatosis research community

UCI researchers develop new cell therapy to improve memory, prevent seizures after TBI

UCI researchers develop new cell therapy to improve memory, prevent seizures after TBI

FDA grants acceptance to application for selumetinib as treatment for neurofibromatosis

FDA grants acceptance to application for selumetinib as treatment for neurofibromatosis

Children's National receives new funding to strengthen global polycystic kidney disease initiative

Children's National receives new funding to strengthen global polycystic kidney disease initiative

Findings could lead to potential new therapies for tumor-causing disorder

Findings could lead to potential new therapies for tumor-causing disorder

Machine learning algorithm effectively identifies individuals with probable familial hypercholesterolemia

Machine learning algorithm effectively identifies individuals with probable familial hypercholesterolemia

SOX9 broadly modifies the severity of Alagille syndrome liver disease in mice

SOX9 broadly modifies the severity of Alagille syndrome liver disease in mice