Genetics

News, opinions and meeting coverage in genetics.

Ultra-Rare Immune System Disease Gets First FDA-Approved Treatment

— Pozelimab reduced hospitalizations, albumin transfusions in CHAPLE disease patients

FDA APPROVED pozelimab (Veopoz) over a micrograph of the intestinal tissue of a child with CHAPLE disease.

Latest in Genetics

Gene Therapy Promising for Rare Jaundice Syndrome

Early-phase data suggest a dose that can keep bilirubin in check without hours of phototherapy

Aug 16, 2023
Cautious Return-to-Play Appears Safe for Athletes With Heart Conditions

Shift away from blanket restrictions is not placing top-tier athletes at undue risk, data suggest

Aug 14, 2023
New Recommendations Address Global Inequality in Sickle Cell Disease Care

Commission lays out strategies for progress by 2025 and beyond

Jul 13, 2023
Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants

Whole genome scans took longer than a commercially available test, but not for most urgent cases

Jul 11, 2023
New Recommendations Address Global Inequality in Sickle Cell Disease Care

Commission lays out strategies for progress by 2025 and beyond

Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants

Whole genome scans took longer than a commercially available test, but not for most urgent cases

More in Genetics

MS Disease Severity Tied to Genetic Variant

Findings mark a significant breakthrough in understanding how MS progresses

Jun 28, 2023
A computer rendering of damaged nerve cells caused by multiple sclerosis.
FDA Staff Weighs 'Alternative' Data on Retinoid for Rare Bone Disorder

Challenges of drug development in fibrodysplasia ossificans progressiva on full display

Jun 27, 2023
FDA ADCOMM palovarotene over a photo of a skeleton of a person who suffered from fibrodysplasia ossificans progressiva
Bicuspid Aortic Valves and Aortopathy Cluster Among Close Relatives

Large study supports wider screening of family members of probands

Jun 15, 2023
A computer rendering of aortic dissection.
High-Dose Leptin Reversed Severe Genetic Obesity in Two Patients

Metreleptin doses several times higher than recommended brought weight down to near normal

Jun 14, 2023
 A computer rendering of fat cells.
Cautious Hope for Endovascular Aortic Tx in Connective Tissue Disease

Success observed in usually contraindicated Marfan, Loeys-Dietz syndromes

Jun 14, 2023
A computed tomography angiography of the aorta with stent-grafting in a patient with aortic aneurysm
Full-On Reversal of Cardiac Amyloidosis Possible With Antibodies

Future treatments don't have to be limited to slowing disease, case series suggests

Jun 07, 2023
A computer rendering of antibodies in the bloodstream.
Can Gene Therapy for Sickle Cell Disease Be Cost-Effective?

When disparities are considered, researchers suggest it can be

Jun 02, 2023
A computer rendering of sickle cells and normal blood cells.
Opinion
How to Overcome the Catch-22 in Precision Medicine Research

Improving the patient experience will go a long way

May 31, 2023
A photo of a pipette hovering over a petri dish laying on genetic testing results.
Rare Skin Blistering Condition Gets First Drug Approved

FDA's decision marks first approval for a redosable gene therapy

May 19, 2023
FDA APPROVED herpes-simplex virus type 1 vector-based gene therapy (Vyjuvek) over a photo of dystrophic epidermolysis bullosa
FDA 'Leans In' to Accelerated Approval for Rare Disease Drugs

CBER director says "moment is tender for gene therapy," sees opportunity to "salvage" treatments

May 19, 2023
A photo of Peter Marks, MD, PhD, next to the ASGCT annual meeting logo.
ASCO Backs Routine ESR1 Testing for Certain Breast Cancers

Activity of elacestrant in EMERALD trial "provides strong signal" for guideline update

May 18, 2023
A photo of test tubes of blood and a petri dish laying on a mammogram of a breast tumor laying next to DNA sequencing result
Alzheimer's Progression Delayed by Rare Genetic Variant

Finding challenges previous assumptions about disease

May 15, 2023
A photo composite of a pipette hovering over brain MRI image in the bottom of a well tray.
B-Cell Stimulating Factors Tied to Lymphoma in Sjogren's

Findings may bolster interest in BTK inhibitors for autoimmune diseases

May 02, 2023
A photo of a blood sample laying on genetic testing results.
FDA Extends Trikafta Approval to Even Younger Cystic Fibrosis Patients

Patients ages 2 to 5 years now eligible for the triple therapy

Apr 27, 2023
FDA APPROVED elexacaftor/tezacaftor/ivacaftor (Trikafta) over a photo of a little girl on a couch using a nebulizer.
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