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Genetics

News, opinions and meeting coverage in genetics.

A computer rendering of amyloid plaques amongst neurons and neurofibrillary tangles inside neurons.

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

Dementia prevention efforts may be beneficial despite genetic susceptibility

A computer rendering of in vitro fertilization.

Fertility Treatment Safe for Breast Cancer Survivors With BRCA Mutations

No significant increased risk of recurrence or pregnancy complications

A computer rendering of rod and cone photoreceptors

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

A computer rendering of amyloid plaques on a nerve cell.

Alzheimer's Variant May Cause Distinct Form of the Disease

Almost all APOE4 homozygotes develop Alzheimer's disease

A photo of a box of Adzynma

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

A computer rendering of a blood vessel narrowed by atherosclerosis

Age-Related Somatic Mutations Implicated in Cardiovascular Death

Clonal hematopoiesis a red flag for people with asymptomatic carotid atherosclerosis

FDA APPROVED mavorixafor (Xolremdi) over a photo of warts on a woman鈥檚 hand.

FDA Approves First Drug for WHIM Syndrome

CXCR4 antagonist mavorixafor effectively boosts neutrophils and lymphocytes to reduce infections

Stylized illustration of strands of human DNA.

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

A computer rendering of a motor neuron connecting to a muscle fiber.

Newborn Screening for SMA Appears to Offer Functional Benefits

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

A close up photo of a fitness tracker on a woman鈥檚 wrist reading 9,606 steps

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

A photo of a vial of Fluorouracil

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

FDA APPROVED ponatinib (Iclusig) over a computer rendering of the destruction of lymphoblast cells

FDA Approves New Frontline Regimen for Aggressive ALL

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

A photo of a physician performing a lumbar puncture

Spinal Delivery of Gene Therapy Promising for Neurodegenerative Disease

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

A computer rendering of prostate cancer.

Mutation Linked to Increased Risk of Prostate Cancer Mortality

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

A medical illustration of glaucoma.

Higher Polygenic Risk Score Tied to Increased Risk for Glaucoma

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

A photo of a female physician talking to her mature female patient in the MRI room.

Cancer Prevention Strategies Linked to Mortality Reduction in BRCA Carriers

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

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

Oral Drug Gains Steam as On-Demand Option for Hereditary Angioedema Attacks

Investigational sebetralstat offered symptom relief in under 2 hours

A photo of Joni Rutter, PhD

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

A computer rendering of a transparent body with the appendix highlighted

Potential Biomarker for Perforated Appendicitis Shows Link to Severe Sepsis

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

SMFM over a photo of Gaylord National Resort & Convention Center in National Harbor, MD

Genome Sequencing Identified Variants in Fetal Structural Anomalies

Researcher touts identification of "high percentage of genetic disorders"

A photo of a woman receiving an ultrasound early in her pregnancy.

More Patients Rely on Early Prenatal Testing as States Toughen Abortion Laws

But testing early in pregnancy may be inaccurate

A computer rendering of X and Y chromosomes.

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

A photo of a male physician examining the ear of a little boy.

Novel Gene Therapy Allows Kids With Inherited Deafness to Hear

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

A photo of a hand holding a well plate in front of an electropherogram

Cost of Genomic Testing on the Minds of Many Oncologists

Insurance coverage, patient out-of-pocket costs key considerations for 80% of survey respondents

A photo composite designed to resemble a relief of oxen hauling wagons, men, strands of DNA, viruses, and a neuron

MS Risk Linked to Ancient Migrations

Findings may help demystify multiple sclerosis

A photo of a pregnant woman receiving an ultrasound.

Retinal Tumor Risk Incidentally Detected at 29 Weeks' Gestation

Finding poses clinical and ethical dilemma for parents and clinicians

FDA APPROVED eplontersen (Wainua) over a computer rendering of amyloidosis

FDA Approves New Agent for Nerve Pain From Rare Inherited Disease

Eplontersen gets a nod for polyneuropathy from hereditary transthyretin-mediated amyloidosis

ASH over a photo of San Diego Convention Center.

Pomalidomide Cuts Severe Epistaxis in Genetic Bleeding Disorder

24 weeks of daily treatment significantly reduced recurrent nosebleeds in HHT trial

A computer rendering of a face inhaling a variety of viruses

Why Is VEXAS Syndrome Often Fatal? Here's an Answer

New study suggests immunodeficiency is a previously unrecognized feature

A computer rendering of DNA editing with CRISPR.

A Closer Look at the Approval of CRISPR/Cas9 Gene Therapy for Sickle Cell Disease

This landmark event brings up broader considerations and implications for other diseases

A computer rendering of the dorsal striatum and lateral ventricles in the brain of a person with Huntington鈥檚 disease

Antisense Drug Trial Provides Key Insights About Huntington's Disease

Lessons learned from investigational tominersen

Morning Break over illustration of a syringe, Covid virus, and DNA helix over a photo of green vegetation.

Jamie Foxx's Health Scare; 23andMe Hacked; Decongestant Probe Announced

Health news and commentary from around the Web gathered by 番茄社区app staff

ACAAI over a photo of Anaheim Convention Center in Anaheim, California.

Here's Why People Think They Developed Food Allergies

Survey finds that 13% thought genetics were responsible, 27% blamed eating behaviors

AHA over a photo of Pennsylvania Convention Center in Philadelphia, Pennsylvania

Promising Debut for CRISPR Gene Editing Therapy for LDL Lowering

Preliminary data support concept of "molecular surgery" on PCSK9 gene

Zoonotic Spillovers; DNA and RNA Testing for Cancer Risk

Also in TTHealthWatch: genes and health conditions among Icelanders

FDA APPROVED ADAMTS13, recombinant-krhn (Adzynma) over a computer rendering of a blood clot.

First Treatment Approved for Genetic Clotting Disorder

Adzynma indicated as prophylactic or on-demand enzyme replacement therapy in cTTP

A photo of a male firefighter standing in front of a fire truck.

Moving Beyond the 'Angelina Jolie Effect' to Address Cancer Disparities

A "local heroes effect" can better reach communities of color

FDA ADCOMM exagamglogene autotemcel (exa-cel) over a computer rendering of sickle cells in the bloodstream.

Potential Cure for Sickle Cell Clears Hurdle for Approval

FDA advisors suggest the benefits of gene therapy outweigh risks of off-target editing

A photo of a pipette in a petri dish laying on top of a DNA sequencing gel.

Quick Genetic Test Offers Hope for Sick, Undiagnosed Kids, but Few Insurers Cover It

Test can "change the trajectory of these children's diseases"

HFSA over a photo of Huntington Convention Center in Cleveland, Ohio.

FDA Turns Down ATTR Cardiomyopathy Drug

Decision cites insufficient evidence of clinical meaningfulness

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