Genetics

News, opinions and meeting coverage in genetics.

ASCO Backs Routine ESR1 Testing for Certain Breast Cancers

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

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

Latest in Genetics

Alzheimer's Progression Delayed by Rare Genetic Variant

Finding challenges previous assumptions about disease

May 15, 2023
B-Cell Stimulating Factors Tied to Lymphoma in Sjogren's

Findings may bolster interest in BTK inhibitors for autoimmune diseases

May 02, 2023
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
Phony Doc Accused in California; Neurosurgeon Shot Dead; Barbie With Down Syndrome

Health news and commentary from around the Web gathered by MedPage Today staff

Apr 26, 2023
FDA Extends Trikafta Approval to Even Younger Cystic Fibrosis Patients

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

Phony Doc Accused in California; Neurosurgeon Shot Dead; Barbie With Down Syndrome

Health news and commentary from around the Web gathered by MedPage Today staff

More in Genetics

Genomics Add Insight Into Worse Colorectal Cancer Outcomes in Black Patients

Fewer actionable mutations, less likely to meet genomic criteria for immunotherapy

Apr 19, 2023
AACR over a photo of Orange County Convention Center in Orlando, Florida.
Many With Cancer Predisposition Diseases Unaware of Genetic Status

Moreover, a significant proportion do not qualify for genetic screening under current guidelines

Apr 19, 2023
AACR over a photo of Orange County Convention Center in Orlando, Florida.
Oral Drug Improves Sunlight Tolerance in Genetic Photosensitivity Disorders

Dersimelagon significantly extended time to sun-related prodromal symptoms

Apr 12, 2023
A photo of a woman silhouetted against a window as she opens heavy curtains.
Genomics Can Help Diagnose Rare Pediatric Diseases

Large study found genomic analysis delivered answers for 41% of kids with undiagnosed disease

Apr 12, 2023
A portion of the map of the human genome
NIH's Genome Chief Says Genomics Is Evolving and Docs Need More Education on It

National Human Genome Research Institute Director Eric Green sits down with MedPage Today

Apr 07, 2023
A photo of Eric Green, MD, PhD
A 'Double Whammy' for Gastric Cancer Risk

H. pylori infection and certain pathogenic variants linked with large excess risk

Mar 29, 2023
A computer rendering of helicobacter pylori on the wall of the stomach.
Common Enzyme Deficiency Linked With COVID Severity

Certain groups of men with G6PD deficiency had higher odds of severe illness

Mar 29, 2023
A photo of nurses in protective gear wheeling a male COVID patient down a hospital hallway.
FDA Greenlights First Drug for Rare Immunodeficiency Disease

Activated PI3K-delta syndrome may have a new standard of care

Mar 27, 2023
 FDA APPROVED leniolisib (Joenja) over a photo of a female physician palpating her mature male patients lymph nodes.
Cholera Outbreak Widens; What Beethoven's DNA Revealed; Grindr's Free HIV Tests

Health news and commentary from around the Web gathered by MedPage Today staff

Mar 23, 2023
Morning Break over illustration of a syringe, Covid virus, and DNA helix over a photo of green vegetation.
Investigational ALS Drug May Have Clinical Benefit, FDA Staff Says

Neurofilament light will be evaluated as a surrogate endpoint in tofersen review

Mar 20, 2023
FDA ADCOMM tofersen over a computer rendering of a damaged motor neuron.
First Treatment Approved for Rare Genetic Neurologic Disorder

Treatment for symptoms of Rett syndrome gets FDA nod

Mar 13, 2023
FDA APPROVED trofinetide (Daybue) over a photo of a girl with Rett’s syndrome in a swing in a park.
Fetus Removed From Brain of 1-Year-Old Girl

Intracranial fetus-in-fetu identified in child with motor delay

Mar 09, 2023
MRI images of the fetus inside the infant’s skull next to photos of the fetus removed.
KRAS Mutations in Metastatic CRC Predict Survival Benefit of Chemo Combo

Trifluridine/tipiracil fails to improve survival in patients with KRAS G12-mutant tumors

Mar 06, 2023
A close up photo of a female cancer patient having a central line port prepared for chemotherapy
Expanding ICD Codes May Aid Rare Disease Patients, Research

NCATS explores how best to use diagnostic codes to move field forward

Mar 02, 2023
A photo of an open ICD code book.
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