ASCO Backs Routine ESR1 Testing for Certain Breast Cancers Activity of elacestrant in EMERALD trial "provides strong signal" for guideline update May 18, 2023
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
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
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
Oral Drug Improves Sunlight Tolerance in Genetic Photosensitivity Disorders Dersimelagon significantly extended time to sun-related prodromal symptoms Apr 12, 2023
Genomics Can Help Diagnose Rare Pediatric Diseases Large study found genomic analysis delivered answers for 41% of kids with undiagnosed disease Apr 12, 2023
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 'Double Whammy' for Gastric Cancer Risk H. pylori infection and certain pathogenic variants linked with large excess risk Mar 29, 2023
Common Enzyme Deficiency Linked With COVID Severity Certain groups of men with G6PD deficiency had higher odds of severe illness Mar 29, 2023
FDA Greenlights First Drug for Rare Immunodeficiency Disease Activated PI3K-delta syndrome may have a new standard of care Mar 27, 2023
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
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
First Treatment Approved for Rare Genetic Neurologic Disorder Treatment for symptoms of Rett syndrome gets FDA nod Mar 13, 2023
Fetus Removed From Brain of 1-Year-Old Girl Intracranial fetus-in-fetu identified in child with motor delay Mar 09, 2023
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
Expanding ICD Codes May Aid Rare Disease Patients, Research NCATS explores how best to use diagnostic codes to move field forward Mar 02, 2023
First Treatment Approved for Rare Neurodegenerative Disorder Omaveloxolone gets FDA nod for Friedreich's ataxia Mar 01, 2023
FDA OKs First Therapy for Alpha-Mannosidosis Velmanase alfa approved for treating non-CNS manifestations of progressive, inherited disease Feb 17, 2023
Rare Disease Non-Profit Shows Drug Development Savvy FAST sold a drug candidate to seed other treatment strategies for Angelman syndrome Feb 15, 2023
Does the Environment Override Genes for People at Risk of Stroke? Large study detects interaction between genetic susceptibility and neighborhood deprivation Feb 08, 2023
Four Germline Mutations Up Risk of Contralateral Breast Cancer Risk significantly elevated among BRCA1, BRCA2, and CHEK2 pathogenic variant carriers Jan 24, 2023
Inflammatory VEXAS Syndrome May Not Be So Uncommon Is new disease being missed by physicians? Jan 24, 2023
We're Underutilizing Genetic Testing for Colorectal Cancer Universal germline testing should be part of the standard of cancer care Jan 20, 2023
NIH Project Aims to Make Gene Therapy 'Playbook' Public PaVe-GT will streamline gene therapy production and share "proprietary" information Jan 18, 2023
Accelerated Approval Not the Finish Line, Says FDA Commissioner Omnibus bill requires confirmatory trials of drug companies Jan 10, 2023
Genetic Screening Program Identifies Unsuspected Thyroid Cancer But few patients opted for surgery, making value of screening questionable, say editorialists Jan 09, 2023
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 Jan 06, 2023
FDA Advisors Cleared a Path for New Gene Therapies in 2022 Both betibeglogene autotemcel and elivaldogene autotemcel approved for rare diseases Dec 30, 2022
Dementia Accompanying Cardiometabolic Disease: Does It Come Down to Genetics? Twin study suggests special monitoring in some individuals Dec 29, 2022
Families Push Research Forward in Rare Diseases The field has a unique funding model. While fruitful, some question if it needs to change. Dec 26, 2022
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 Dec 26, 2022
Early Win for Gene Therapy in Rare Form of SCID 10 infants were able to make their own T cells; safety good so far Dec 21, 2022
Topical Gene Therapy Heals Blistering Skin Disease Lesions Randomized trial shows "dramatic" benefits in rare genetic disease Dec 14, 2022
mRNA Cancer Vaccine Shows Promise in Early Trial Melanoma patients who had vax plus PD-1 inhibitor did better than those on pembrolizumab alone Dec 14, 2022
FDA Is Letting Harmful Lab-Developed Tests Fall Through the Cracks We must regulate LDTs that carry risk Dec 09, 2022
Assay Predicts Breast Cancer Patients Who Will Benefit From Ovarian Suppression Low score suggests improved outcomes with ovarian suppression plus adjuvant endocrine therapy Dec 07, 2022
Decoding Cancer A conversation with Harold Varmus, MD, who received the Nobel Prize in Physiology or Medicine in 1989 Dec 06, 2022 podcast