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.
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

New grants support research on mechanics of tumor cells

New grants support research on mechanics of tumor cells

Rare genetic disorder more common than previously thought, report shows

Rare genetic disorder more common than previously thought, report shows

Researchers identify gene mutation that causes musculoskeletal problems in children

Researchers identify gene mutation that causes musculoskeletal problems in children

New study on gene modulation may help prevent blindness

New study on gene modulation may help prevent blindness

'A new era of drug discovery’: Company develops drug using AI

'A new era of drug discovery’: Company develops drug using AI

Experimental treatment shows early promise to help nearly half of DMD patients

Experimental treatment shows early promise to help nearly half of DMD patients

Cheaper drug equally effective in preserving cardiovascular function in boys with DMD

Cheaper drug equally effective in preserving cardiovascular function in boys with DMD

Study: Gene editing may correct genetic mutation responsible for Duchenne muscular dystrophy

Study: Gene editing may correct genetic mutation responsible for Duchenne muscular dystrophy

Scientists pinpoint cause of fatal genetic disorder in children

Scientists pinpoint cause of fatal genetic disorder in children