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Genetics

News, opinions and meeting coverage in genetics.

IGHV-Unmutated CLL: Gene Signature May Predict Outcomes After First-Line FCR

Prognostic tool may predict who is likely to achieve a relatively long remission

A newborn baby facing away from the camera sleeping

Deaf Parents Want Deaf Baby: Bioethicist Weighs In

You voted, now see the results and an expert's discussion

A photo of Mila and Julia Vitarello

Mila's N-of-1 Trial Detailed in NEJM

Neurologic scores stabilized, seizures diminished with tailored antisense oligonucleotide therapy

Fludarabine, cyclophosphamide, and rituximab over a chronic lymphocytic leukemia (CLL) blood smear under light microscopy

FCR Still an Option in IGHV-Unmutated CLL?

Gene signature identifies lower-risk group with greater chemoimmunotherapy benefit

A digital collage of a human fetus and DNA helix

Ethics Consult: Deaf Couple Only Wants Deaf Baby

You make the call: should doctor implant embryo selected for deafness?

A view inside the human eye showing the retina, optic nerve, and macula

Faulty Amino Acid Metabolism Linked to Rare Eye Disease

Study helps explain genetic heterogeneity in macular telangiectasia type 2

Photo of John Elway throwing a football

John Elway鈥檚 Debilitating Hand Condition

Hall of Famer fights Dupuytren's contracture

An illustration of two gloved hands with tweezers removing pieces of a DNA strand

Good News, Bad News for CRISPR Gene Editing for HIV Cure

"Bigger story for the gene-editing field than the HIV field"

WCLC over a photo of Gran Via, Fira de Barcelona

'Dirtier' Drugs Step Aside in RET-Positive NSCLC

Over two-thirds of patients respond to selective RET inhibitor

Photo of Henry T. Lynch, MD, PhD

The Legacy of Henry Lynch, MD

Earlier this summer the legendary researcher passed, his contributions to cancer research are immeasurable

n-of-1 over a photo of a gloved hand plucking a piece from a DNA strand with tweezers

Desperate Families Pursue 'N-of-1' Trials for Ultra-Rare Diseases

Technology dangles hope of cure -- for those able to pay

LDL particles binding to LDL receptors on the cell membrane

The Alzheimer's-Cholesterol Connection

Parallel lines of evidence link the two in early-onset Alzheimer's disease

Fertility Fraud; Pharma's 'Patient' Advocacy; Mass. Nursing Homes Fined

This past week in healthcare investigations

Bespoke Babies to Prevent CF: Best Use Case or Ethical Bog?

Bioethicist and pediatrician debate cystic fibrosis gene-editing

Genetic Profiling Disappoints for CUP Survival

But testing in cancer of unknown primary site did help with prognosis

Parkinson's Gene Therapy Shows Signs of Motor Improvement

Early open-label trial in advancing Parkinson's disease showed treatment was safe, well-tolerated

Cannabis Use Again Tied to Risk for Psychotic-Like Experiences

Genetics underlies the association, but heavy use may also play a role

Mysteries Solved at NIH Program for Undiagnosed Illnesses

Dx has come to light in 35% of accepted cases so far

Inherited JAK3 Mutation May Up Head/Neck Ca Risk in African Americans

About 8% carry the single nucleotide polymorphism

Frequent Basal Cell Cancers Sign of Broader Inherited Risk

Tripled rates of internal malignancies such as breast and prostate tumors

Afib Patch Test; Heart Failure and Genetics: It's PodMed Double T!

This week's topics include a patch to diagnose atrial fibrillation, USPSTF recommendations on nontraditional risk factors for heart disease, the role of genetics in congestive heart failure, and multivitamins and heart disease.

Genetic Role in Heart Failure Seen in Adoption Study

Researchers suggest searching for specific variants

ADHD Higher in Preterm Babies, Especially Girls

Sibling study shows association may not be tied to genes or family environment

Cardiovascular Risk in RA: Beyond Inflammation?

With adverse lifestyle plus bad genes plus inflammation, 'you unleash hell'

AMA Tangles With 'Gene Doping' Guidelines

Also: emergency room evidence; impact of corporate investors in healthcare

IMPACT Trial: Support for Targeted Cancer Tx Approaches

Survival doubled with therapy matched to tumor genetics

Sorting Out Genomic Tests for Prostate Cancer

Discordance between tests, with NCCN risk criteria

Genetics Identified for Alcohol-Related Heart Damage

Variant in titin-coding gene may contribute to cardiomyopathy susceptibility

Antisense Therapy Shows Promise in Huntington's

First human trial of huntingtin-lowering drug appears safe, well tolerated

Drug Could Make Progeria Manageable, Not Fatal

A potential breakthrough for this genetic rapid-aging disease in children

It's Official! Curing Patients Is Bad for Business

Milton Packer describes the end result of profit-dominated drug development

Capitalism vs Communism: Is It Really in the Genes?

Perry Wilson, MD, examines ambitious claim for genomics research

Gene Therapy Flops for Critical Limb Ischemia

Non-viral biologic agent didn't improve wound healing

Low-Fat versus Low-Carb: Both Work for Weight Loss

No interaction found with genotype, weight lost

Dietary Sodium Tied to New-Onset Diabetes Risk

Higher rates of type 2 and late autoimmune diabetes in adults with increasing sodium

Genomic Testing Helps Cancer Patients -- When Results are Used

Also, liquid biopsy can ID drug-responsive tumors

Presymptomatic Infants Do Best with Nusinersen

Best results may be with dosing before 6 weeks of age

Eteplirsen Boosts Dystrophin, Function in DMD

Details from 12 patients in Study 201/202 reported at AAN

Older Kids With SMA Still Benefit From Nusinersen

But motor benefits more impressive in infants

SMA Gene Therapy Promising in Early Results

12 children with spinal muscular atrophy hit motor milestones in phase I trial of AVXS-101

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