Search Results
Profile
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. … If you ask Neil Hanchard, … 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
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… Holoprosencephaly is a relatively common birth defect of the brain, which often can also affect facial features, … closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth, as well as other birth … the double lobes of the cerebral hemispheres. … Genetic Disorders …
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 … increased risk of developing Parkinson disease and related disorders. … The diagnosis of Gaucher disease is based on … glucocerebroside cannot be adequately degraded. … Genetic Disorders …
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 …
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. … Patients, patient advocates, and families of …
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, Genetic Disorder, Family … performed on newborn babies to detect a wide variety of disorders. … Educational Resources …
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 … is an inherited disorder of blood clotting. … Genetic Disorders …
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.
… Steven Benowitz … 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. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and the …