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 discover rare genetic disorder that affects the brain, heart and facial features

Researchers discover rare genetic disorder that affects the brain, heart and facial features

New drug reduces tumor volume and pain in patients with neurofibromatosis type 1

New drug reduces tumor volume and pain in patients with neurofibromatosis type 1

The Marlene and Spencer Hays Foundation awards $68,000 grant to COMBINEDBrain

The Marlene and Spencer Hays Foundation awards $68,000 grant to COMBINEDBrain

Study sheds new light on the role of MLL4 gene in Kabuki syndrome

Study sheds new light on the role of MLL4 gene in Kabuki syndrome

Gene therapy can effectively treat mice with tuberous sclerosis complex, shows study

Gene therapy can effectively treat mice with tuberous sclerosis complex, shows study

Scientists discover molecular defects associated with rare genetic disorder in children

Scientists discover molecular defects associated with rare genetic disorder in children

Research illuminates regulatory mechanism of ubiquitin-proteasome system in DNA damage repair

Research illuminates regulatory mechanism of ubiquitin-proteasome system in DNA damage repair

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)