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.
Research findings suggest new treatment strategies for patients with cystic fibrosis

Research findings suggest new treatment strategies for patients with cystic fibrosis

Targeted Genetics issued patent related to adeno-associated virus (AAV) technology platform

Targeted Genetics issued patent related to adeno-associated virus (AAV) technology platform

Researchers generate patient-specific stem cells

Researchers generate patient-specific stem cells

Infants with Krabbe disease saved by cord blood stem cells

Infants with Krabbe disease saved by cord blood stem cells

EraGen Biosciences and Bayer announce agreements for new cystic fibrosis (CF) assay

EraGen Biosciences and Bayer announce agreements for new cystic fibrosis (CF) assay

First DNA-based blood test to help detect cystic fibrosis

First DNA-based blood test to help detect cystic fibrosis

Nephrogenic Syndrome of Inappropriate Antidiuresis - a new genetic disease

Nephrogenic Syndrome of Inappropriate Antidiuresis - a new genetic disease

Revised Bethesda guidelines effective at identifying patients at risk of colorectal cancer

Revised Bethesda guidelines effective at identifying patients at risk of colorectal cancer

Fickle enzyme helps protect, but also can promote heart failure

Fickle enzyme helps protect, but also can promote heart failure

Baby gene tests safety should be checked

Baby gene tests safety should be checked

Cardiac stem cells come closer to clinic

Cardiac stem cells come closer to clinic

The liver may produce most of the body's good cholesterol

The liver may produce most of the body's good cholesterol

Yeast discovery provides new insights into familial dysautonomia

Yeast discovery provides new insights into familial dysautonomia

DNA repair kit announced by scientists

DNA repair kit announced by scientists

Potential therapeutic role for the ataxin-3 protein for Machado-Joseph disease

Potential therapeutic role for the ataxin-3 protein for Machado-Joseph disease

Three different leukemias are all caused by mutations that alter a specific enzyme controlling blood cell proliferation

Three different leukemias are all caused by mutations that alter a specific enzyme controlling blood cell proliferation

Dental researchers map the gene that causes dentinogenesis imperfecta

Dental researchers map the gene that causes dentinogenesis imperfecta

Researchers investigate the interaction of proteins responsible for Saethre-Chotzen Syndrome

Researchers investigate the interaction of proteins responsible for Saethre-Chotzen Syndrome

Most infertile women want to choose  the sex of their child

Most infertile women want to choose the sex of their child

British restrictions on genetic testing and insurance extended

British restrictions on genetic testing and insurance extended