乌鸦传媒

Genetics

<乌鸦传媒 class='mpt-top_cat_title_description'>News, opinions and meeting coverage in genetics.

A close up of a woman鈥檚 eye yellowed by jaundice.

<乌鸦传媒>Gene Therapy Promising for Rare Jaundice Syndrome

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

Photo of a doctor checking a sports athlete with a stethoscope.

<乌鸦传媒>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

A scanning electron microscope image of a sickle cell.

<乌鸦传媒>New Recommendations Address Global Inequality in Sickle Cell Disease Care

Commission lays out strategies for progress by 2025 and beyond

A graphical representation of a genome sequence map.

<乌鸦传媒>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

A computer rendering of damaged nerve cells caused by multiple sclerosis.

<乌鸦传媒>MS Disease Severity Tied to Genetic Variant

Findings mark a significant breakthrough in understanding how MS progresses

FDA ADCOMM palovarotene over a photo of a skeleton of a person who suffered from fibrodysplasia ossificans progressiva

<乌鸦传媒>FDA Staff Weighs 'Alternative' Data on Retinoid for Rare Bone Disorder

Challenges of drug development in fibrodysplasia ossificans progressiva on full display

A computer rendering of aortic dissection.

<乌鸦传媒>Bicuspid Aortic Valves and Aortopathy Cluster Among Close Relatives

Large study supports wider screening of family members of probands

A computer rendering of fat cells.

<乌鸦传媒>High-Dose Leptin Reversed Severe Genetic Obesity in Two Patients

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

A computed tomography angiography of the aorta with stent-grafting in a patient with aortic aneurysm

<乌鸦传媒>Cautious Hope for Endovascular Aortic Tx in Connective Tissue Disease

Success observed in usually contraindicated Marfan, Loeys-Dietz syndromes

A computer rendering of antibodies in the bloodstream.

<乌鸦传媒>Full-On Reversal of Cardiac Amyloidosis Possible With Antibodies

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

A photo of a pipette hovering over a petri dish laying on genetic testing results.

<乌鸦传媒>How to Overcome the Catch-22 in Precision Medicine Research

Improving the patient experience will go a long way

FDA APPROVED herpes-simplex virus type 1 vector-based gene therapy (Vyjuvek) over a photo of dystrophic epidermolysis bullosa

<乌鸦传媒>Rare Skin Blistering Condition Gets First Drug Approved

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

<乌鸦传媒>FDA 'Leans In' to Accelerated Approval for Rare Disease Drugs

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

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

<乌鸦传媒>ASCO Backs Routine ESR1 Testing for Certain Breast Cancers

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

A photo composite of a pipette hovering over brain MRI image in the bottom of a well tray.

<乌鸦传媒>Alzheimer's Progression Delayed by Rare Genetic Variant

Finding challenges previous assumptions about disease

A photo of a blood sample laying on genetic testing results.

<乌鸦传媒>B-Cell Stimulating Factors Tied to Lymphoma in Sjogren's

Findings may bolster interest in BTK inhibitors for autoimmune diseases

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

<乌鸦传媒>FDA Extends Trikafta Approval to Even Younger Cystic Fibrosis Patients

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

AACR over a photo of Orange County Convention Center in Orlando, Florida.

<乌鸦传媒>Genomics Add Insight Into Worse Colorectal Cancer Outcomes in Black Patients

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

AACR over a photo of Orange County Convention Center in Orlando, Florida.

<乌鸦传媒>Many With Cancer Predisposition Diseases Unaware of Genetic Status

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

A photo of a woman silhouetted against a window as she opens heavy curtains.

<乌鸦传媒>Oral Drug Improves Sunlight Tolerance in Genetic Photosensitivity Disorders

Dersimelagon significantly extended time to sun-related prodromal symptoms

A portion of the map of the human genome

<乌鸦传媒>Genomics Can Help Diagnose Rare Pediatric Diseases

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

A photo of Eric Green, MD, PhD

<乌鸦传媒>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 乌鸦传媒

A computer rendering of helicobacter pylori on the wall of the stomach.

<乌鸦传媒>A 'Double Whammy' for Gastric Cancer Risk

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

A photo of nurses in protective gear wheeling a male COVID patient down a hospital hallway.

<乌鸦传媒>Common Enzyme Deficiency Linked With COVID Severity

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

FDA APPROVED leniolisib (Joenja) over a photo of a female physician palpating her mature male patients lymph nodes.

<乌鸦传媒>FDA Greenlights First Drug for Rare Immunodeficiency Disease

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

FDA ADCOMM tofersen over a computer rendering of a damaged motor neuron.

<乌鸦传媒>Investigational ALS Drug May Have Clinical Benefit, FDA Staff Says

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

MRI images of the fetus inside the infant鈥檚 skull next to photos of the fetus removed.

<乌鸦传媒>Fetus Removed From Brain of 1-Year-Old Girl

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

A close up photo of a female cancer patient having a central line port prepared for chemotherapy

<乌鸦传媒>KRAS Mutations in Metastatic CRC Predict Survival Benefit of Chemo Combo

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

A photo of an open ICD code book.

<乌鸦传媒>Expanding ICD Codes May Aid Rare Disease Patients, Research

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

FDA APPROVED omaveloxolone (Skyclarys) over a photo of a man with Friedreich鈥檚 ataxia in a wheelchair outside.

<乌鸦传媒>First Treatment Approved for Rare Neurodegenerative Disorder

Omaveloxolone gets FDA nod for Friedreich's ataxia

FDA APPROVED velmanase alfa (Lamzede) over a photo of two toddler boys affected by alpha-mannosidosis

<乌鸦传媒>FDA OKs First Therapy for Alpha-Mannosidosis

Velmanase alfa approved for treating non-CNS manifestations of progressive, inherited disease

A photo of a physical therapist working with a little girl with Angelman syndrome

<乌鸦传媒>Rare Disease Non-Profit Shows Drug Development Savvy

FAST sold a drug candidate to seed other treatment strategies for Angelman syndrome

ISC over a photo of the Kay Bailey Hutchison Convention Center in Dallas, Texas

<乌鸦传媒>Does the Environment Override Genes for People at Risk of Stroke?

Large study detects interaction between genetic susceptibility and neighborhood deprivation

A computer rendering of a blue X chromosome highlighted in red in the center

<乌鸦传媒>Inflammatory VEXAS Syndrome May Not Be So Uncommon

Is new disease being missed by physicians?

A photo of a sign which reads: YOUNG PEOPLE ARE DYING OF COLORECTAL CANCER on the National Mall in Washington, D.C.

<乌鸦传媒>We're Underutilizing Genetic Testing for Colorectal Cancer

Universal germline testing should be part of the standard of cancer care

A photo of surgeons removing a breast cancer tumor.

<乌鸦传媒>Genomic Assay May Pinpoint Who Can Skip RT After Breast-Conserving Surgery

Patients categorized as low risk with 16-gene signature showed no significant benefit with RT

A photo of smiling mature twin sisters looking a smartphone.

<乌鸦传媒>Dementia Accompanying Cardiometabolic Disease: Does It Come Down to Genetics?

Twin study suggests special monitoring in some individuals

A photo of Charles Venditti, MD, PhD, meeting with a young female patient.

<乌鸦传媒>Families Push Research Forward in Rare Diseases

The field has a unique funding model. While fruitful, some question if it needs to change.

A computer rendering of a syringe with a strand of DNA as the needle.

<乌鸦传媒>COVID Vaccines Made mRNA a Household Name. How Can It Help in Rare Diseases?

A handful of companies have mRNA therapies in human trials for rare diseases

A photo of a female nurse bathing a little boy living in a plastic bubble in a hospital.

<乌鸦传媒>Early Win for Gene Therapy in Rare Form of SCID

10 infants were able to make their own T cells; safety good so far

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