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Genetics

News, opinions and meeting coverage in genetics.

A photo of an elderly patient receiving an intravenous drip while using a ventilator in Beijing.

New Genetic Analysis of Animals in Wuhan Market in 2019 May Help Find COVID's Origin

Findings "shift the dial more in favor of an animal origin," said one expert

ESC over a photo of ExCeL London conference and exhibition center.

Novel Drug Reduced Triglycerides, Risk of Pancreatitis in Persistent Chylomicronemia

Benefits seen in patients with and without a genetic diagnosis

A computer rendering of red blood cells

A Miss for Steroid-Toting Red Blood Cells in Ataxia Telangiectasia

Phase III trial falls short of efficacy target, but positive signal emerges in younger kids

FDA ADCOMM arimoclomol over a computer rendering of a strand of DNA.

FDA Advisors Mostly Convinced Arimoclomol Works for Rare Genetic Disorder

If approved, this would be the first drug for Niemann-Pick disease type C

FDA ADCOMM arimoclomol over a computer rendering of a strand of DNA.

FDA Panel to Consider Arimoclomol for Rare Genetic Disorder

This is the second time the drug has been submitted to the FDA for Niemann-Pick disease type C

A computer rendering of an artery, capillary, and arteriole.

Sotorasib Promising for KRAS鈥揜elated Vascular Malformations

Two patients had rapid symptom improvement and reductions in malformation volume

ASRS over a photo of Stockholmsm盲ssan Convention Center in Stockholm, Sweden.

Gene Therapies for Neovascular AMD Continue to Show Promise

Studies show 90% reduction in intravitreal treatment burden, durable effect on vision, anatomy

A photo of the East London skyline under a layer of smog.

Psoriasis Joins List of Diseases Tied to Air Pollution

Poor air quality adds significantly to risk from genetic susceptibility factors

A photo of smog over London.

Genes, Air Pollution Combine to Raise Lupus Risk

British data suggest how environmental and genetic factors add together

A computer rendering of an oligonucleotide aptamer attacking a cancer cell.

Can Oligonucleotide Infusions Really Fix Lyme, Cancer, and Other Diseases?

U.S. clinics market oligonucleotide therapy for a wide range of conditions, without much evidence

A photo of people on the beach in Tel Aviv, Israel.

Adolescent Obesity Tied to Parents' BMI at the Same Age

Moderate association between parental and offspring BMI at age 17

FDA APPROVED crovalimab (Piasky) over a computer rendering of blood flowing inside a vessel.

Subcutaneous C5 Inhibitor Approved for PNH

Longer-acting crovalimab designed for more sustained effect and less treatment burden

A computer rendering of a meningioma.

ALK Inhibitor Shows Promise in Rare, Progressive Tumor Types

Phase II study found brigatinib exceeded historical control by shrinking 10% of targeted tumors

A photo of Robin Alderman and her son Camden Alderman.

Gene Therapy May Cure More Rare Diseases, but Drugmakers Have Few Incentives

Profitability, production cost, and low number of patients are barriers

A computer rendering of amyloid plaques on a nerve cell

Alzheimer's Onset Delayed by Rare Mutation

Just one copy of the Christchurch variant conferred protection

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

Alzheimer's Risk Higher If Mom Had Memory Problems

Maternal history of memory impairment tied to higher amyloid burden

A microscope image of the 46 human chromosomes

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

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

A photo of a man鈥檚 lip swollen from hereditary angioedema

Hereditary Angioedema Attacks Reduced With Donidalorsen Prophylaxis

Investigational treatment passes muster in phase III trial

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 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

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