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.
Otsuka Pharmaceutical enters into global agreement with Columbia University School of Public Health

Otsuka Pharmaceutical enters into global agreement with Columbia University School of Public Health

New data highlights the gaps in care for children with familial hypercholesterolemia

New data highlights the gaps in care for children with familial hypercholesterolemia

New technology precisely diagnoses sickle cell disease in a minute

New technology precisely diagnoses sickle cell disease in a minute

Small molecule restores normal heart development in animal model with rare genetic disorder

Small molecule restores normal heart development in animal model with rare genetic disorder

People with one albinism gene mutation may be prone to pale-colored melanomas

People with one albinism gene mutation may be prone to pale-colored melanomas

Removing copper from blood can destroy deadliest cancers that are resistant to immunotherapy

Removing copper from blood can destroy deadliest cancers that are resistant to immunotherapy

Research shows how a protein stops cells from attacking their own DNA

Research shows how a protein stops cells from attacking their own DNA

FDA approves new treatment option for patients with rare Duchenne muscular dystrophy mutation

FDA approves new treatment option for patients with rare Duchenne muscular dystrophy mutation

Specific gene impairment may also protect people with Down syndrome

Specific gene impairment may also protect people with Down syndrome

Mice born with Fragile X syndrome have fewer cell antennas

Mice born with Fragile X syndrome have fewer cell antennas

A new cell-based gene therapy approach to better treat patients with hemophilia A

A new cell-based gene therapy approach to better treat patients with hemophilia A

Study identifies common characteristics of pediatric vestibular schwannomas

Study identifies common characteristics of pediatric vestibular schwannomas

Developing a Better Understanding of Polycystic Ovary Syndrome (PCOS)

Developing a Better Understanding of Polycystic Ovary Syndrome (PCOS)

New discovery helps explain heart defects in Barth syndrome

New discovery helps explain heart defects in Barth syndrome

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