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.
NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome, reveals study

NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome, reveals study

Study provides mechanistic explanation of psychotic symptoms in young people

Study provides mechanistic explanation of psychotic symptoms in young people

Study shows how two proteins provide a tunnel for bad cholesterol to enter the cells

Study shows how two proteins provide a tunnel for bad cholesterol to enter the cells

Whole genome sequencing can improve diagnosis and treatment of patients with rare diseases

Whole genome sequencing can improve diagnosis and treatment of patients with rare diseases

PCOS subtypes associated with distinct genetic variations, finds study

PCOS subtypes associated with distinct genetic variations, finds study

Persistent DNA damage in the placenta can affect embryonic growth

Persistent DNA damage in the placenta can affect embryonic growth

Researchers question the mechanism of retinitis pigmentosa

Researchers question the mechanism of retinitis pigmentosa

Overactive enzyme causes an inherited form of high blood pressure

Overactive enzyme causes an inherited form of high blood pressure

UTSW/Children's Health joint program approved as Certified Duchenne Care Center

UTSW/Children's Health joint program approved as Certified Duchenne Care Center

UVA researchers discover essential key to hearing sensitivity in the inner ear

UVA researchers discover essential key to hearing sensitivity in the inner ear

Study paves way to better understand the pathophysiology of schizophrenia

Study paves way to better understand the pathophysiology of schizophrenia

Texas A&M study offers hope for young children diagnosed with Menkes disease

Texas A&M study offers hope for young children diagnosed with Menkes disease

FDA approves first-ever treatment for patients with inoperable plexiform neurofibromas

FDA approves first-ever treatment for patients with inoperable plexiform neurofibromas

Study: Direct and repetitive irradiation with 222nm UVC does not cause skin cancer

Study: Direct and repetitive irradiation with 222nm UVC does not cause skin cancer

Starving pancreatic cancer cells of cysteine may induce tumor ferroptosis

Starving pancreatic cancer cells of cysteine may induce tumor ferroptosis

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