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genetic diseases

Dr. Ariel Afek, left, and doctoral student Noga Levy at Afek's lab at the Weizmann Institute of Science. (Courtesy/Weizmann Institute of Science)
August 26, 2026, 3:41 am
Breakthrough Israeli cancer study finds mutations break DNA when it doesn’t bend
Weizmann Institute of Science and Rowan University researchers show that repair enzymes fail to fix gene structures of certain shapes, in discovery that may lead to new therapies
By Diana Bletter
Meitar Roz keeps it positive while in the hospital in an undated photo. (Courtesy of the Roz family)
June 19, 2026, 7:49 pm
Back on his feet: Thousands fund Israeli boy’s $3.2m degenerative disease treatment
Friends, family, strangers chip in for 8-year-old Meitar Roz’s life-changing DMD therapy in campaign launched by mother and IDF reservist father after state denied request for help
By Lianne Kolirin
Ayala Ohana, 12, seen in white shirt, carries the ball at the start of the France-Senegal FIFA World Cup match at the MetLife Stadium in New Jersey on June 16, 2026. (Screen captures/ Instagram/Hananel Ohana)
June 17, 2026, 2:05 pm
12-year-old girl with rare disease represents Israel at World Cup
Ayala Ohana, whose struggle with Gaucher has moved hundreds of thousands of followers online, was one of 104 children from around the world chosen to serve as ball carriers
By ToI Staff and Eliana Rosen
Portrait of a pregnant woman. (Yossi Zamir/Flash 90)
November 28, 2025, 12:52 pm
Health Ministry said to flag error in genetic test kit detecting rare mutation, reread results
Haaretz report concerns MECR mutation, part of Israel’s expanded screening panel; can lead to problems with movement, speech, vision; rare disease more common among Ashkenazi Jews
By Diana Bletter
Illustrative. In vitro fertilization (IVF) of an egg cell. (iStock by Getty Images/ man_at_mouse)
March 18, 2024, 2:24 pm
Israeli IVF clinics imported embryos with serious genetic disease, probe reveals
Medical staff reportedly implanted embryos afflicted with hemophilia in several hopeful mothers, in latest revelation in series of Israeli IVF scandals
By Renee Ghert-Zand
Dr. Or Kakhlon in his Jerusalem laboratory. (Courtesy)
March 17, 2024, 3:05 pm
Israeli scientists harness molecule to treat rare disease common in Ashkenazim
Research team isolates GHF-201 to fight APBD, a nervous system disorder mostly found in Jews of Eastern European descent, as patients eagerly await the green light for treatment
By Diana Bletter
Detail from artistic interpretation of the rare genetic disease Rett syndrome by Hadar Zysman, who suffers from the disease. She creates art using a computer app that responds to her eye movements. (Courtesy of Weizmann Institute)
February 29, 2024, 11:01 am
Rare genetic diseases captured in painful and inspiring online art exhibition
With February 29 marking International Rare Diseases Day, Israeli researchers launch a website providing families of diagnosed kids with crucial information and resources
By Renee Ghert-Zand
Package of the statin Litorva, also commonly known by the brand name Lipitor. (Renee Ghert-Zand/TOI)
July 11, 2023, 2:04 pm
In bid to cure rare disease, scientists discover treatment for statin side effect
Ben Gurion University and Soroka Medical Center genetic researchers focus on commonalities between a type of limb-girdle muscular dystrophy and the cholesterol synthesis pathway
By Renee Ghert-Zand
Illustrative: a newborn baby in Jerusalem on October 29, 2018. (Hadas Parush/Flash90)
June 7, 2023, 12:42 pm
Israel sees its first-ever case of rare rapid aging ‘Benjamin Button’ disease
2-month-old girl is being treated at Haifa’s Rambam hospital; children with progeria disorder age extremely quickly and suffer ailments of the elderly while still very young
By Renee Ghert-Zand
Dr. Lalita Ramakrishnan, seen here with tanks of zebrafish, is a professor of microbiology at Cambridge University focused on tuberculosis. (Courtesy of MRC Laboratory of Molecular Biology)
May 6, 2023, 3:22 pm
Study: Gaucher disease, common among Ashkenazi Jews, protects against tuberculosis
Cambridge University team discovers that specific cellular-level lipids that accumulate in the genetic disease attack and kill deadly TB bacterium, hope to develop new treatment
By Renee Ghert-Zand
Illustrative: An in vitro fertilization embryologist works on a petri dish at a fertility clinic in London, August 14, 2013. (AP Photo/Sang Tan)
October 14, 2022, 1:27 pm
Designer babies? Hi-tech preimplantation genetic testing may soon come to Israel
Unlike simpler forms of testing used in IVF today, screening for polygenic diseases doesn’t offer a clear diagnosis but rather a ‘risk score’ for a Pandora’s box full of conditions
By Nirit Sandman Eriksson
Illustrative image: A 3D illustration of a fetus in the womb. (magicmine via iStock by Getty Images)
October 14, 2022, 10:56 am
Israeli needle-free alternative to amnio can detect thousands of mutations
Blood test developed by Tel Aviv University scientist provides detailed info on fetuses without associated health risks of amniocentesis
By Nathan Jeffay
Emily Levi. (Facebook)
May 17, 2022, 11:59 pm
Israeli diagnoses her own rare condition while watching Grey’s Anatomy
Emily Levi suffered from joint dislocations for years until she found answer in medical drama; today, she is the CEO of a clinic in Petah Tikva that aims to assist others like her
By ToI Staff
Benny Landsman, 4, at Dayton Children’s Hospital April 8, 2021, before surgery to receive the first clinical trial of a new gene therapy for Canavan disease. (Courtesy of the Landsman family/ via Dayton Jewish Observer)
May 8, 2021, 3:46 am
New gene therapy trial in US offers hope for children with Canavan disease
4-year-old Benny Landsman is first to receive experimental procedure for condition that causes blindness, paralysis, seizures, and average life expectancy of under a decade
By Marshall Weiss
Dr. Monte Westerfield and Prof. Jen Phillips of University of Oregon
June 16, 2020, 1:45 am
Facebook founder funds research into genetic disease targeting Ashkenazi Jews
Chan-Zuckerberg Initiative donates $450,000 to help find a therapy for Usher 1F Syndrome, a rare degenerative condition that causes blindness and deafness
By Cathryn J. Prince
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