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Genetics

News, opinions and meeting coverage in genetics.

A Single, Surprising Gene Behind a Disorder That Causes Intellectual Disability

β€” Researchers estimate the disorder may affect as many as one in 20,000 young people

A microscope image of the 46 human chromosomes

Latest in Genetics

Hereditary Angioedema Attacks Reduced With Donidalorsen Prophylaxis

Investigational treatment passes muster in phase III trial

May 31, 2024
Lifestyle-Dementia Links Persist Regardless of Risk Genes, French Study Shows

Dementia prevention efforts may be beneficial despite genetic susceptibility

May 23, 2024
Fertility Treatment Safe for Breast Cancer Survivors With BRCA Mutations

No significant increased risk of recurrence or pregnancy complications

May 17, 2024
Gene Editing Improves Vision in Rare and Devastating Retinal Disorder

Therapy improved best corrected visual acuity in four of 14 patients, and others benefited too

May 07, 2024
Fertility Treatment Safe for Breast Cancer Survivors With BRCA Mutations

No significant increased risk of recurrence or pregnancy complications

Gene Editing Improves Vision in Rare and Devastating Retinal Disorder

Therapy improved best corrected visual acuity in four of 14 patients, and others benefited too

More in Genetics

Alzheimer's Variant May Cause Distinct Form of the Disease

Almost all APOE4 homozygotes develop Alzheimer's disease

May 06, 2024
 A computer rendering of amyloid plaques on a nerve cell.
Impact of Recombinant Replacement Therapy Detailed in Genetic Clotting Disorder

Trial that led to FDA approval shows a big difference in replacement levels versus usual care

May 01, 2024
A photo of a box of Adzynma
Age-Related Somatic Mutations Implicated in Cardiovascular Death

Clonal hematopoiesis a red flag for people with asymptomatic carotid atherosclerosis

Apr 29, 2024
A computer rendering of a blood vessel narrowed by atherosclerosis
FDA Approves First Drug for WHIM Syndrome

CXCR4 antagonist mavorixafor effectively boosts neutrophils and lymphocytes to reduce infections

Apr 29, 2024
FDA APPROVED mavorixafor (Xolremdi) over a photo of warts on a woman’s hand.
Genetics Studies Have a Diversity Problem That Researchers Struggle to Fix

Most data based on DNA from white people, but small differences can have big health outcomes

Apr 28, 2024
Stylized illustration of strands of human DNA.
Newborn Screening for SMA Appears to Offer Functional Benefits

German cohort study suggests earlier initiation of treatment benefits sitting, walking

Apr 08, 2024
A computer rendering of a motor neuron connecting to a muscle fiber.
Need 10,000 Daily Steps to Prevent Obesity? It May Depend on Genetics

Current recommendations may underestimate activity needs for people with high genetic risk

Mar 27, 2024
A close up photo of a fitness tracker on a woman’s wrist reading 9,606 steps
Overdosing on Chemo: A Common Gene Test Could Save Hundreds of Lives Each Year

Treatment can be deadly for enzyme-deficient patients; NCCN doesn't call for preemptive testing

Mar 26, 2024
A photo of a vial of Fluorouracil
FDA Approves New Frontline Regimen for Aggressive ALL

Ponatinib lands indication in combination with chemo for Philadelphia chromosome-positive cases

Mar 22, 2024
FDA APPROVED ponatinib (Iclusig) over a computer rendering of the destruction of lymphoblast cells
Spinal Delivery of Gene Therapy Promising for Neurodegenerative Disease

Early-phase clinical trial was suggestive of slower progression of giant axonal neuropathy

Mar 20, 2024
A photo of a physician performing a lumbar puncture
Mutation Linked to Increased Risk of Prostate Cancer Mortality

Cancer-specific mortality twice as high in patients with specific genotype for HSD3B1 allele

Mar 20, 2024
A computer rendering of prostate cancer.
Higher Polygenic Risk Score Tied to Increased Risk for Glaucoma

Risk scores may allow action before irreversible damage occurs in those with ocular hypertension

Mar 19, 2024
A medical illustration of glaucoma.
Cancer Prevention Strategies Linked to Mortality Reduction in BRCA Carriers

Cohort studies indicate oophorectomy, breast MRI surveillance save lives, researchers say

Feb 29, 2024
A photo of a female physician talking to her mature female patient in the MRI room.
Oral Drug Gains Steam as On-Demand Option for Hereditary Angioedema Attacks

Investigational sebetralstat offered symptom relief in under 2 hours

Feb 28, 2024
AAAAI over a photo of Walter E. Washington Convention Center in Washington, DC
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