Neil Rajan

@derm-scientist.bsky.social

Professor of Dermatogenetics + Consultant Dermatologist #genetics #raredisease #dermatology Views are mine; he/him/his

Recombinant DNASE1L3 therapy reduced symptoms in a patient with severe lupus with DNASE1L3 deficiency. Antidrug antibodies caused effects to wane, but findings support NET-targeted therapy as a nonimmunosuppressive approach. Read the full report: https://nej.md/3Rlv5Sm

Upper image shows a close-up of a red, inflamed eye labeled "Episcleritis" before administration of Recombinant DNASE1L3 at 8:55 a.m. Lower image shows the same eye with reduced redness after administration of Recombinant DNASE1L3 at 4:27 p.m., 6 hours and 5 minutes later.

“Sakura” in Japan. Cherry blossoms symbolize the fleeting nature of life, mortality, renewal, and spring in Japanese culture. ☺️ TT: ThaoThao Yodo station, Kyoto

A 47-year-old woman presented to the dermatology clinic with a 1-year history of a crawling sensation on her chin that caused her to scratch the area. The right corneal reflex was decreased, and pinprick and temperature sensation around the mouth, lip, and chin on the right side was reduced. 1/2

Image Challenge
What is the diagnosis?

A photo the patient’s chin

Why do whales and elephants have much lower rates of cancer than expected? "Species with a lower cancer prevalence and mortality risk are those with a higher presence of cooperative and caring habits, while the opposite is found....:" www.science.org/doi/10.1126/...

Coevolution of cooperative lifestyles and reduced cancer prevalence in mammals

While cooperative mammals evolve reducing cancer prevalence, oncogenes can be maintained by selection in competitive species.

science.org

Personalized therapies hold tremendous promise but challenge traditional models of drug and biologic development. The @fda.gov outlines a path to market entry for products where a randomized trial is not feasible. Learn more: nej.md/4nUQdcl

Sounding Board 
"Nearly 30 years after the sequencing of the human genome, bespoke therapies are close to reality. The FDA will work as a partner and guide in ushering these therapies to market, and our regulatory strategies will evolve to match the pace of scientific advances." 

"FDA’s New Plausible Mechanism Pathway Vinay" by Prasad, M.D., M.P.H., and Martin A. Makary, M.D., M.P.H.

A 75-year-old woman with a history of infiltrating ductal carcinoma of the breast (previously treated with bilateral radical mastectomy and ongoing adjuvant hormonal therapy) presented to the dermatology clinic with a 1-year history of rash on the chest. 1/2 #MedSky #DermSky

Image Challenge
What is the diagnosis?

Left: Photo of the rash on the chest

Right: Histopathology of a skin-biopsy sample from the left chest-wall scar

BREAKING: The Nobel Prize in Physiology or Medicine has been awarded jointly to Mary E. Brunkow, Fred Ramsdell, and Shimon Sakaguchi "for their discoveries concerning peripheral immune tolerance" Stay tuned for more. #NobelPrize

A photo of a Nobel medal

The potential for 2 cancer drugs in combination to impact Alzheimer's disease as an outgrowth or single-cell RNA -seq, review of electronic health records from 1.4 million patients, and whittling down 1,300 potential repurposed drugs to 2. www.cell.com/cell/fulltex...

Cell-type-directed network-correcting combination therapy for Alzheimer’s disease

A multi-cell-type drug discovery strategy targeting dysregulated gene networks in neurons and glia identified letrozole and irinotecan as a combination therapy that significantly improved memory and r...

cell.com