Comprehensive coverage

genetic diseases

Cut in a fetal body. Courtesy of the researchers

How - and where - does a disease begin?

Researchers discovered which genes are required for each stage of cell differentiation into neural stem cells and neurons, i.e. for brain development, and which of them are involved in diseases of the nervous system
Right: Ella Amitai Sadovsky - cystic fibrosis. On the left, Reut Dafna - Marfan syndrome

A database on the rare genetic diseases in Israel and an artistic project called "Rare" that illustrates each of these diseases

A new site that serves as the first knowledge base of its kind in Hebrew in the field of rare genetic diseases in Israel - was launched on the occasion of the International Day for Rare Diseases, which is noted on a date that returns only once every four years - February 29. The Internet project is a joint initiative of Bar-Ilan University and the Weizmann Institute of Science.  
Embryonic stem cells. Illustration: depositphotos.com

Going deeper into the roots of the diseases

Researchers have built cellular models of genetic diseases such as fragile X syndrome and found the mechanism that causes them
X and Y chromosomes. Illustration: depositphotos.com

The complete sequence of the human Y chromosome was assembled for the first time

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Scientists have successfully sequenced the entire human Y chromosome, revealing critical genomic features. This groundbreaking research offers deep insights into human biology and potential medical advances. The new sequence reveals genomic factors in fertility, including sperm production.
Microscope image of the fibers produced by the fibroblasts in the cancerous tumor environment. Above: orderly fibers in samples taken from pancreatic cancer patients with a normal BRCA gene, below: branched fibers in samples from patients carrying a mutation in the gene

Thugs in the Hait neighborhood

Not only breast cancer: mutations in the BRCA gene, which are especially common among Ashkenazim, increase the risk of various types of cancer - also in men. The institute's scientists reveal how they turn healthy cells in their environment into collaborators
Mitochondrial structure. Illustration: depositphotos.com

The DNA is decreasing

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For 1.5 billion years, the mitochondria - the powerhouse of the cell - have been sending DNA segments to the cell nucleus, and they merge with the DNA in the nucleus. A new study found that the contribution of the mitochondria to the DNA in the cell nucleus gradually decreases. This process is expected to reduce the incidence of some hereditary diseases
From the right: Dr. Anat Bhat and Prof. Rivka Dickstein. Violate freedom of expression. Photo: Weizmann Institute spokeswoman

The garden is not allowed to express itself

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Has a solution been found for fragile X syndrome?

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Dr. Ayelet Erez. To turn to side ways. Source: Weizmann Institute magazine.

The connection between a rare childhood disease and the fight against cancer

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The gene that causes the severe degenerative disease of the nervous system may have been essential in our evolution. Illustration: pixabay.com.

Huntington's paradox: how an essential gene causes a fatal disease

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genetic disorders. Illustration: shutterstock

Extraction of stem cells from children with Prader-Willi disease has led to new insights into a process known as "parental imprinting"

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Identifying the genetics associated with the genes on the X chromosome can help in understanding the different characteristics between the sexes - such as height. Photo: shutterstock

The X chromosome may explain the origin of height differences between women and men

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Neurons in XNUMXD. Illustration: shutterstock

New mutations have been found in the genes responsible for two serious neurological diseases that have not been described to date

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Prof. Nissim Benvanisti. Photo: The Hebrew University.

Researchers at the Hebrew University have taken the first step towards treating hereditary mental retardation in boys using stem cells

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Fingerprint scanner. From Wikipedia

to be born without an identity

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Trisomy 21 (chromosome number 21 appears 3 times) which characterizes Down syndrome

chipping (of genes)

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Prof. Ruth Sperling

A grant to Prof. Sperling from the Hebrew University and Prof. Stamm from the University of Kentucky for obesity research

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Professor Yossi Shiloh. Photo: Ayelet Klartag

The Israel Prize - XNUMX: The Minister of Education, Gideon Sa'ar, announced today the winning of the winner of the Israel Prize in the field of life science research

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Prof. Naim Shahada (left) and Dr. Gal Neuman at the Rambam clinic. Photo: Piotr Plitar.

Sons ate unripe, the teeth of fathers will be priests

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A normal brain (left) and an Alzheimer's disease brain (right)

Medicine - Alzheimer's: to delay the decline of the screen

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The opening page of the first publication in which Huntington describes the disease named after him

Oedipus, Theresias and Huntington's disease: the prophecy fulfilled

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From right to left: Prof. Skortsky, Dr. Magen and Prof. Zelikovich. Photo: Piotr Plitar

Rambam and Technion researchers were able to identify the exact defect that causes the loss of phosphorus through the kidney and the severe bone disease in these patients

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DNA

Israeli and American researchers have identified a region in the DNA that contains a common genetic factor that increases the risk of kidney disease

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The genome project - success or failure?

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The case is closed - the European royal families suffered from hemophilia B

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