Why the absence of hope may be hurting Huntington’s disease research

Why the absence of hope may be hurting Huntington’s disease research

Publication date: Jul 09, 2019

The author of those words is George Huntington, the physician credited with defining the disease that carries his name, Huntington’s Disease, a genetic, invariably fatal, neurologic disorder.

In individuals unaffected by Huntington’s, the repeat occurs less than twenty-six times.

As the repeats increase, an individual is more likely to experience the symptoms of Huntington’s Disease.

Unlike other genetic diseases, which present more frequently in infants or children, the age of onset for Huntington’s is in the 30’s, long after many individuals have become parents and passed the genetic risk to their children.

Accurate diagnostic testing is only 25 years old, a blood test to characterize the number of repeats in the Huntington gene.

In the time before a reliable test was available, many individuals at risk, in the 70-90% range were interested in testing.

Part of the answer may come from a study of participants in this study who choose not to know their Huntington’s Disease (HD) status.

The study enrolled asymptomatic patients with a 50% risk of developing HD, the primary goal of the study was to ascertain whether some constellation of early symptoms and signs might alert physicians.

Slightly more than half anticipated treatment to improve symptoms or postpone the onset of the disease within the next 10 years; more -certain” as to improving symptoms than preventing HD’s onset.

In the meantime, the study should serve as a reminder to us all, physicians and patients, that medicine remains a practical art and that emotions, like hope and fear, sometimes play outsized roles.

Concepts Keywords
Agriculture Huntingtons
Anxiety Huntingtin
Asymptomatic Huntington’s disease
Beautiful People Trinucleotide repeat disorders
Blood Test RTT
BRCA Mutation Autosomal dominant disorders
Breast Cancer Branches of biology
Cape Cod Medicine
Chorea Neurological disorders
Compulsive Behavior Manifestations disease
Constellation Name Huntingtons Disease
Cotton Mather Hereditary chorea
CRISPR Genetic diseases
Dementia Alzheimers Disease
Depression Disorder
East End Alzheimer’s disease
FACS Chorea
FDA
Gene
Genetic
Genetic Diseases
Genetically Dominant
George Washington
Hamptons
Heirloom
Horror
Huntingtin
Huntington
Island
Long Island
Massachusetts
MBA
Mental Disabilities
Neurologic Disorder
Nucleotides
Physician
Pine
Protein
Spectrum
Suicide
The Hamptons
Twitter
Vascular Surgeon
Vector
Witch

Semantics

Type Source Name
disease DOID dementia
disease MESH dementia
gene UNIPROT MCL1
disease MESH lack of coordination
disease DOID chorea
disease MESH chorea
gene UNIPROT ENG
gene UNIPROT SSRP1
gene UNIPROT SMC2
gene UNIPROT SNRPB
gene UNIPROT SLC25A1
gene UNIPROT TYRO3
disease MESH neurologic disorder
gene UNIPROT ARTN
gene UNIPROT AGRP
gene UNIPROT ELL
disease MESH men
disease MESH uncertainty
pathway BSID Breast cancer
disease DOID breast cancer
disease MESH breast cancer
disease MESH genetic diseases
gene UNIPROT REST
gene UNIPROT RXFP2
gene UNIPROT EHD1
disease MESH depression
disease MESH anxiety
disease DOID anxiety
disease MESH compulsive behavior
disease MESH suicide
gene UNIPROT CHL1

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