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Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… with international researchers, and the importance of determination in science. … from Oxford University. “Genetics research just made a lot of sense to me. I found it fascinating,” says Dr. Hanchard. … the Center for Precision Health Research and head of the Childhood Complex Disease Genomics Section within the …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately … disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Factor V Leiden is the name of a specific mutation (genetic alteration) that results in … are at somewhat higher than average risk for a type of clot that forms in large veins in the legs (deep venous …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… Luke in an ADHD clinical study at the National Institutes of Health (NIH) led by Dr. Philip Shaw of the National Human Genome Research Institute's Social and … them to invite more relatives to participate, regardless of whether any of us have ever been diagnosed with ADHD. It …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… performed on newborn babies to detect a wide variety of disorders. … Newborn screening is a set of laboratory tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is … States, newborn screening is mandatory for a defined set of genetic diseases, although the exact set differs from …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the United States and around the … genome editing should be used to prevent or treat genetic disorders. … patient advocates, and families of patients with genetic disorders have diverse views on whether germline genome …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… Media Availability In the largest study of its kind to date, researchers have used DNA sequencing to uncover dozens of genes that heighten the risk for autism. Joseph Buxbaum, Ph.D., Icahn School of Medicine at Mount Sinai, New York City, Mark Daly, Ph.D., …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics. … FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of … FAQs about genetic disorders, the impact of genomics on your health, and the …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… diseases when the suspected carrier has no symptoms of the disease, but that person’s offspring could have the disease if the other parent is a carrier of a harmful variant in the same gene. …