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Genetics

News, opinions and meeting coverage in genetics.

Impact of Recombinant Replacement Therapy Detailed in Genetic Clotting Disorder

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

A photo of a box of Adzynma

Latest in Genetics

Age-Related Somatic Mutations Implicated in Cardiovascular Death

Clonal hematopoiesis a red flag for people with asymptomatic carotid atherosclerosis

Apr 29, 2024
FDA Approves First Drug for WHIM Syndrome

CXCR4 antagonist mavorixafor effectively boosts neutrophils and lymphocytes to reduce infections

Apr 29, 2024
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
Newborn Screening for SMA Appears to Offer Functional Benefits

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

Apr 08, 2024
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

Newborn Screening for SMA Appears to Offer Functional Benefits

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

More in Genetics

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 womanโ€™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
Faster Cures, More Genetic Treatments: A Q&A With NIH's Joni Rutter

The NCATS Biomedical Data Translator is giving researchers ideas for new disease therapies

Feb 23, 2024
A photo of Joni Rutter, PhD
Potential Biomarker for Perforated Appendicitis Shows Link to Severe Sepsis

Test that can differentiate between simple and perforated appendicitis is "highly desirable"

Feb 20, 2024
A computer rendering of a transparent body with the appendix highlighted
Genome Sequencing Identified Variants in Fetal Structural Anomalies

Researcher touts identification of "high percentage of genetic disorders"

Feb 14, 2024
SMFM over a photo of Gaylord National Resort & Convention Center in National Harbor, MD
More Patients Rely on Early Prenatal Testing as States Toughen Abortion Laws

But testing early in pregnancy may be inaccurate

Feb 13, 2024
A photo of a woman receiving an ultrasound early in her pregnancy.
A Clue on Why Lupus, Other Autoimmune Diseases Strike Far More Women Than Men

New research shows that the extra X chromosome is involved, but in an unexpected way

Feb 01, 2024
 A computer rendering of X and Y chromosomes.
Novel Gene Therapy Allows Kids With Inherited Deafness to Hear

"This is real proof showing gene therapy is working," says researcher

Jan 25, 2024
A photo of a male physician examining the ear of a little boy.
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