Ruth Ashery-Padan

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Ruth Ashery-Padan is an Israeli geneticist who is a professor and principal investigator in the Department of Human Genetics and Molecular Medicine at the Sackler Faculty of Medicine, Tel Aviv University. [1] She is known for her contributions to the understanding of ocular development.

Contents

Life and education

Ruth Ashery-Padan was born in Israel. She earned her bachelor's in biology and psychology in 1988 and a master's degree in genetics in 1990, both from the Hebrew University of Jerusalem. [1] In 1996, she graduated with her Ph.D. in genetics from the Hebrew University of Jerusalem, where she became interested in the molecular mechanisms of eye development. From 1996-2001, Ashery-Padan was a postdoctoral research fellow at the laboratory of Peter Gruss in the Department of Molecular Cell Biology at the Max Planck Institute for Biophysical Chemistry. [1]

Ashery-Padan served as the Head of the Yoran Institute for Human Genome Research. [2] She is also on the organizing board of the Israel Society of Developmental Biology and a member of Tel Aviv University's School of Neuroscience. [3]

Career and research

Ashery-Padan's research interests and contributions are focused on various aspects of ocular development and molecular biology, including lenses, transcription factors, retinal pigmented epithelium, neurogenesis, morphogenesis, stem cells, and cell fate decisions during early retinal development. [4] Ashery-Padan has collaborated extensively with researchers from various institutions across the United States and internationally. She has authored or co-authored over 139 publications, which have received over 7,055 citations. [5]

In 2001, Ashery-Padan joined the faculty of Tel Aviv University to establish her laboratory which focuses on solving the complexities of ocular development. Her research has advanced the scientific field's understanding of the roles of transcription factors, particularly Pax6, in eye formation. [3] Ashery-Padan employs functional studies in vivo combined with gene arrays, biochemical, and cell culture studies to investigate transcription factor activity on target genes. Her research team has revealed the roles of Pax6 in progenitor cells of the retina, lens, iris, and ciliary body. [3] According to the E. Matilda Ziegler Foundation for the Blind, genetic dissection of Pax6 dosage requirements in the developing eye has shown that Pax6 dosage in the lens and cornea affects the development of the eye's drainage structures and leads to ganglion cell loss. [3]

Ashery-Padan also studied Age-Related Macular Degeneration (AMD). As published in PLOS Biology, [6] she had the main goal of finding the genetic intricacies underlying Age-Related Macular Degeneration by focusing on the retinal pigmented epithelium (RPE), a tissue particularly impacted in the early stages of the disease. Within this context, she found two pivotal proteins, LHX2 and OTX2, as key transcriptional activators that control the expression of numerous genes exclusive to RPE tissue. [7] By employing the ChIP-seq method, Ashery-Padan and her team were able to precisely map the genomic regions where these proteins bind. [7] They revealed their critical function in regulating gene expression. Changes in DNA sequences in these genomic regions were shown to affect the expression of nearby genes, one of which encodes an ion channel essential for proper operation of the eyes, increasing the risk of AMD. [6]

Awards and honors

Publications

Related Research Articles

<span class="mw-page-title-main">Retina</span> Part of the eye

The retina is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception. The retina serves a function which is in many ways analogous to that of the film or image sensor in a camera.

<span class="mw-page-title-main">Macular degeneration</span> Medical condition associated with vision loss

Macular degeneration, also known as age-related macular degeneration, is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. While it does not result in complete blindness, loss of central vision can make it hard to recognize faces, drive, read, or perform other activities of daily life. Visual hallucinations may also occur.

<span class="mw-page-title-main">Lipofuscin</span> Lipid-containing residue associated with aging

Lipofuscin is the name given to fine yellow-brown pigment granules composed of lipid-containing residues of lysosomal digestion. It is considered to be one of the aging or "wear-and-tear" pigments, found in the liver, kidney, heart muscle, retina, adrenals, nerve cells, and ganglion cells.

<span class="mw-page-title-main">Cone dystrophy</span> Medical condition

A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.

<span class="mw-page-title-main">Drusen</span> Accumulations of extracellular material in the retina

Drusen, from the German word for node or geode, are tiny yellow or white accumulations of extracellular material that build up between Bruch's membrane and the retinal pigment epithelium of the eye. The presence of a few small ("hard") drusen is normal with advancing age, and most people over 40 have some hard drusen. However, the presence of larger and more numerous drusen in the macula is a common early sign of age-related macular degeneration (AMD).

<span class="mw-page-title-main">Vitelliform macular dystrophy</span> Medical condition

Vitelliform macular dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss. This disorder affects the retina, specifically cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The condition is characterized by yellow, slightly elevated, round structures similar to the yolk of an egg.

Stargardt disease is the most common inherited single-gene retinal disease. In terms of the first description of the disease, it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1). However, there are Stargardt-like diseases with mimicking phenotypes that are referred to as STGD3 and STGD4, and have a autosomal dominant inheritance due to defects with ELOVL4 or PROM1 genes, respectively. It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.

<span class="mw-page-title-main">Eye development</span> Formation of the eye during embryonic development

Eye formation in the human embryo begins at approximately three weeks into embryonic development and continues through the tenth week. Cells from both the mesodermal and the ectodermal tissues contribute to the formation of the eye. Specifically, the eye is derived from the neuroepithelium, surface ectoderm, and the extracellular mesenchyme which consists of both the neural crest and mesoderm.

Astellas Institute for Regenerative Medicine is a subsidiary of Astellas Pharma located in Marlborough, Massachusetts, US, developing stem cell therapies with a focus on diseases that cause blindness. It was formed in 1994 as a company named Advanced Cell Technology, Incorporated (ACT), which was renamed to Ocata Therapeutics in November 2014. In February 2016 Ocata was acquired by Astellas for $379 million USD.

<span class="mw-page-title-main">PEDF</span> Protein-coding gene in the species Homo sapiens

Pigment epithelium-derived factor (PEDF) also known as serpin F1 (SERPINF1), is a multifunctional secreted protein that has anti-angiogenic, anti-tumorigenic, and neurotrophic functions. Found in vertebrates, this 50 kDa protein is being researched as a therapeutic candidate for treatment of such conditions as choroidal neovascularization, heart disease, and cancer. In humans, pigment epithelium-derived factor is encoded by the SERPINF1 gene.

<span class="mw-page-title-main">Bestrophin 1</span> Protein-coding gene in the species Homo sapiens

Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene.

<span class="mw-page-title-main">Orthodenticle homeobox 2</span> Protein-coding gene in the species Homo sapiens

Homeobox protein OTX2 is a protein that in humans is encoded by the OTX2 gene.

<span class="mw-page-title-main">Maculopathy</span> Term for pathological conditions effecting the macula

A maculopathy is any pathological condition of the macula, an area at the centre of the retina that is associated with highly sensitive, accurate vision.

<span class="mw-page-title-main">Ocular albinism type 1</span> Most common type of ocular albinism

Ocular albinism type 1(OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal. Since it is usually an X-linked disorder, it occurs mostly in males, while females are carriers unless they are homozygous. About 60 missense and nonsense mutations, insertions, and deletions have been identified in Oa1. Mutations in OA1 have been linked to defective glycosylation and thus improper intracellular transportation.

<span class="mw-page-title-main">Macular telangiectasia</span> Disease of the retina affecting central vision

Macular telangiectasia is a condition of the retina, the light-sensing tissue at the back of the eye that causes gradual deterioration of central vision, interfering with tasks such as reading and driving.

Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness.

<span class="mw-page-title-main">Lineage Cell Therapeutics</span> Clinical-stage biotechnology company developing novel cell therapies

Lineage Cell Therapeutics, Inc. is a clinical-stage biotechnology company developing novel cell therapies for unmet medical needs. Lineage’s programs are based on its robust proprietary cell-based therapy platform and associated in-house development and manufacturing capabilities. With this platform Lineage develops and manufactures specialized, terminally differentiated human cells from its pluripotent and progenitor cell starting materials. These differentiated cells are developed to either replace or support cells that are dysfunctional or absent due to degenerative disease or traumatic injury or administered as a means of helping the body mount an effective immune response to cancer.

<span class="mw-page-title-main">Emixustat</span> Chemical compound

Emixustat is a small molecule notable for its establishment of a new class of compounds known as visual cycle modulators (VCMs). Formulated as the hydrochloride salt, emixustat hydrochloride, it is the first synthetic medicinal compound shown to affect retinal disease processes when taken by mouth. Emixustat was invented by the British-American chemist, Ian L. Scott, and is currently in Phase 3 trials for dry, age-related macular degeneration (AMD).

<span class="mw-page-title-main">Stem cell therapy for macular degeneration</span> Use of stem cells to treat macular degeneration

Stem cell therapy for macular degeneration is the use of stem cells to heal, replace dead or damaged cells of the macula in the retina. Stem cell based therapies using bone marrow stem cells as well as retinal pigment epithelial transplantation are being studied. A number of trials have occurred in humans with encouraging results.

References

  1. 1 2 3 "Prof. Ruth Ashery Padan | Faculty of Medicine". en-med.tau.ac.il. Retrieved 2024-05-16.
  2. ↑ "Ruth Ashery-Padan is the new Head of the Yoran Institute for Human Genome Research". en-med.tau.ac.il. Retrieved 2024-05-16.
  3. 1 2 3 4 "Ruth Ashery-Padan, PhD, Tel Aviv University | E. Matilda Ziegler Foundation for the Blind" . Retrieved 2024-05-16.
  4. ↑ "Ruth Ashery Padan". Tel Aviv University. Retrieved 2024-05-16.
  5. ↑ "Ruth Ashery Padan". ResearchGate.
  6. 1 2 Cohen-Gulkar, Mazal; David, Ahuvit; Messika-Gold, Naama; Eshel, Mai; Ovadia, Shai; Zuk-Bar, Nitay; Idelson, Maria; Cohen-Tayar, Yamit; Reubinoff, Benjamin; Ziv, Tamar; Shamay, Meir; Elkon, Ran; Ashery-Padan, Ruth (2023-01-17). "The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration". PLOS Biology. 21 (1): e3001924. doi: 10.1371/journal.pbio.3001924 . ISSN   1545-7885. PMC   9844853 . PMID   36649236.
  7. 1 2 "Researchers Identify A New Genetic Risk Factor for Age-related Eye Disease". Tel Aviv University. 2023-02-07. Retrieved 2024-05-31.
  8. ↑ "Dan David Prize". Dan David Prize. Retrieved 2024-05-16.
  9. ↑ "Teva Pharmaceutical Industries Ltd". www.tevapharm.com. Retrieved 2024-05-31.
  10. ↑ "E. Matilda Ziegler Foundation for the Blind | An Innovative Approach To Vision Research" . Retrieved 2024-05-16.
  11. ↑ "Scholarships for the Integration of Outstanding Faculty". המועצ. 2019-04-12. Retrieved 2024-05-16.
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