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Webcast : Ataxia Telangiectasia (A-T)
Webcast : Ataxia Telangiectasia (A-T) administrator 0 Views • 2 years ago

http://www.Alfred.TV READ ME FIRST: Join me with Dr. Howard Lederman from Johns Hopkins Medicine as he provides us with an overview of the genetic disorder, Ataxia Telangiectasia, better known as "A-T".

Dr. Lederman's titles at Johns Hopkins Medicine include:

• Professor of Pediatrics
• Director, Immunodeficiency Clinic
• Director, Ataxia-Telangiectasia Clinical Center
• Director, Pediatric Immunology Laboratory

A-T can be referred to as a "gateway gene", with its mutation, known as "ATM", opening the doors to many other diseases, including:

• Diabetes
• Alzheimer's
• Cerebral Palsy
• Cystic Fibrosis
• Breast Cancer
• Immune Deficiency

Dr. Lederman's leading-edge research on A-T, with his team at Johns Hopkins Medicine, may also lead to uncovering cures for these other diseases.

There are approximately 500 individuals afflicted with A-T in the United States. It is a rare, genetic disorder.

Also joining us in this video is Jared Digby, with his mother, Pamela, who is afflicted with A-T. Pamela and her husband both were carries of the mutated A-T gene, and Jared, unfortunately, got a 'double dose" at the genetic level, and suffers with the disorder. Jared's sister is ok.

Jared is an avid MacPro user, and he with his family are participating in a Disney Marathon this Labor Day weekend, 2009, to continue fundraising efforts for continued A-T research.

Below are website links used during this webcast:

John Hopkins Medicine
http://www.hopkinsmedicine.org/

Howard Mark Lederman, MD PhD
http://bit.ly/10hPga

Johns Hopkins on YouTube
http://www.youtube.com/user/JohnsHopkinsMedicine

Wikipedia entry on A-T
http://en.wikipedia.org/wiki/Ataxia_telangiectasia

Technical data on the AT Mutated gene
http://igene.invitrogen.com/iG....ene/browse/gene/ATM/

Jared Digby's personal homepage
http://www.geocities.com/jareddigby/

Jared on Twitter
http://www.twitter.com/jareddigby

Jared's donation page
http://www.communityatcp.org/jareddigby

Jared's keyboard used with his MacPro under Leopard
http://bit.ly/UgXCE

Ataxia Telangiectasia
Ataxia Telangiectasia administrator 0 Views • 2 years ago

ataxia telangiectasia
A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds
A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds administrator 7 Views • 2 years ago

Presented By: Paul Mathews, PhD

Speaker Biography: Dr. Paul J. Mathews received his bachelors degree from the University of Oregon where he studied invertebrate behavioral plasticity in the lab of Dr. Nathan Tublitz. He received his Ph.D. in neuroscience from the University of Texas at Austin under the mentorship of Dr. Nace Golding. Dr. Mathews work focused on understanding how the biophysical properties of specific voltage-gated ion channels in an auditory brainstem nuclei contribute to their capacity to make sub-millisecond computations necessary for low frequency sound localization. For the past several years Dr. Mathews has been working at UCLA under the mentorship of Dr. Tom Otis where he is currently working to uncover the cerebellar circuit mechanisms that underlie motor learning and memory.

Webinar: A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds

Webinar Abstract: Ataxia Telangiectasia, also known as A-T, is a devastating neuropediatric and genetic disorder for which there is no cure. Patients suffer from immune deficiency, cancer predisposition, and a progressive loss of motor capabilities (ataxia). They die within their first 3 decades of life. Our understanding for how the disorder, which is caused by deficiency in the A-T mutated (ATM) protein, has been hampered by a lack of suitable animal model that mimics the most characteristic aspects of the disease (e.g., ataxia). I will detail a new mouse model of A-T that develops many of the key characteristics of A-T, most importantly the progressive ataxia and associated defects and atrophy of the cerebellum. Additionally, I will present promising data on a novel therapeutic that has the potential to restore ATM production in A-T patients whose underlying genetic defect is a nonsense mutation.

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Ataxia Telangiectasia Rapid Review: Primary Immunodeficiencies Chapter of The Achiever's Course
Ataxia Telangiectasia Rapid Review: Primary Immunodeficiencies Chapter of The Achiever's Course administrator 0 Views • 2 years ago

Details: https://www.drsandeepsharma.co.in/
This is a video discussing chromosomal breakage disorders, especially Ataxia Telangiectasia, included in primary immunodeficiencies. The video is a part of the Achiever's Course by Dr Sandeep Sharma, an online course for mid-year AIIMS, PGI and JIPMER 2020. Also useful for NEET exams.
#aiims #pgi #sandeepsharma

Tapones para Sara. Ataxia telangiectasia.
Tapones para Sara. Ataxia telangiectasia. administrator 1 Views • 2 years ago

Sara es una alcalaína de 10 años que padece Ataxia Telangiectasia, una enfermedad rara degenerativa con 15 casos en España. Se manifiesta en la dificultad en los movimientos y en una mayor susceptibilidad a infecciones y tumores entre otras dolencias. La asociación AEFAT agrupa a los afectados por esta enfermedad. Quieren sensibilizar a la opinión pública, ayudar a los enfermos y sus familias y favorecer la investigación. En Alcalá ha comenzado una campaña de reciclaje solidario de tapones de plástico para recaudar fondos y conseguir poner en marcha un proceso de investigación. Se habilitarán puntos de recogida como colegios y centros comerciales. Todos los puntos de recogida en: www.aitzina.org/reciclaje-solidario

Targeting the ATM pathway for the treatment of CLL
Targeting the ATM pathway for the treatment of CLL administrator 1 Views • 2 years ago

Tatjana Stankovic, MD, PhD, University of Birmingham, Birmingham, UK discusses recent findings in the ataxia-telangiectasia mutated (ATM) pathway including targeting this pathway in Chronic Lymphocytic Leukemia (CLL). This interview took place at the 18th International Workshop on Chronic Lymphocytic Leukemia (iwCLL) Biennial Meeting, held in Edinburgh, UK.
¡Te retamos a decir
¡Te retamos a decir administrator 0 Views • 2 years ago

¡Te retamos! ¿Sabrías decir "ataxia telangiectasia?

Difícil, ¿no? Pues tú puedes ayudarnos a que suene, porque lo que no se nombra, no existe. Y es una enfermedad rara y neurodegenerativa, sin cura, que afecta a unos 30 niños y jóvenes en España, y a cientos en todo el mundo. Sus efectos son diversos, causando una discapacidad progresiva importante: problemas motores, les obliga a usar silla de ruedas hacia los 9 años, produce inmunodeficiencia, dificultad para hablar, problemas de visión, complicaciones respiratorias... y mayor probabilidad de sufrir tumores.

Por eso, desde Aefat, asociación que agrupa a unas 30 familias en España, lideramos esta campaña internacional de sensibilización que cuenta con la participación de las principales asociaciones de familias de otros países: Action for AT y AT Society (Reino Unido), AT Children's Project (EEUU), BrashAT (Australia), Associazione Nazionale A-T (Italia), AT Europe (Francia), Atileyasam (Turquía), Live Association (Suiza), Twan Foundation (Países Bajos), además de familias de países donde no existe aún asociación, como Argentina.

¿CÓMO PUEDES AYUDARNOS?
- Por BIZUM desde tu móvil al instante, buscando Aefat entre las ONGs para donar, o bien indicando el teléfono o código 01274 (cambia el modo de efectuar la operación según la entidad bancaria). Te aparecerá Aefat-Aitzina porque también usamos Bizum para nuestro Festival Solidario Aitzina Folk, que se celebra cada año.
- A través de nuestras cuentas de AEFAT de Facebook e Instagram (el dinero va directo a nuestra ONG, sin comisiones, y recibes un email de confirmación):
- Por transferencia en las siguientes cuentas:
Caja Laboral: ES85 3035 0228 9622 8009 9996
La Caixa: ES39 2100 5866 5502 0004 1666
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We challenge you! Can you say "ataxia telangiectasia?"

Difficult? You can help us make it sound, because what is not named does not exist. And it is a rare and neurodegenerative disease, with no cure, that affects about 30 children and young people in Spain, and hundreds around the world. Its effects are diverse, causing significant progressive disability: motor problems, it forces them to use a wheelchair around the age of 9, produces immunodeficiency, difficulty speaking, vision problems, respiratory complications ... and a greater probability of suffering from tumors.

For this reason, from Aefat, an association that brings together some 30 families in Spain, we lead this international awareness campaign that has the participation of the main family associations from other countries: Action for AT and AT Society (United Kingdom), AT Children's Project (USA), BrashAT (Australia), Associazione Nazionale AT (Italy), AT Europe (France), Atileyasam (Turkey), Live Association (Switzerland), Twan Foundation (Netherlands), as well as families from countries where it does not yet exist association, like Argentina.
PART 1 Diagnosis of A T
PART 1 Diagnosis of A T administrator 1 Views • 2 years ago

The first of a three part series about Ataxia-Telangiectasia (A-T)

We meet 6 year old twins Brae and Broghan and their parents to find out about a diagnosis of Ataxia-Telangiectasia (A-T).
05/09/2011 NOTICIA ATAXIA TELANGIECTASIA
05/09/2011 NOTICIA ATAXIA TELANGIECTASIA administrator 1 Views • 2 years ago

NOTICIAS REGIÓN DE MURCIA
INFORMATIVO POPULARTV REGIÓN DE MURCIA
Versión Corta. Ataxia-Telangiectasia. Transtornos Linfocitos T y B. Inmunodeficiencias Primarias.
Versión Corta. Ataxia-Telangiectasia. Transtornos Linfocitos T y B. Inmunodeficiencias Primarias. administrator 2 Views • 2 years ago

Actualmente en Internado Médico
Ingenieras en Biotecnología a los 16 años
Step 1 USMLE, a los 20.
Rotación en Surgical Intensive Care Unit, Univ. de Miami.
Presidenta y Vicepresidenta del Mission:Brain UAM chapter
Cada una con más de 50 cirugías mayores de neurocirugía y ortopedia, como 1er. o 2do. ayudantes.
Dos trabajos en Congreso Latinoamericano de Neurocirugía
Miembros de la American Association of Neurological Surgeons
Las Polímatas más prolíficas en producciones de videos matemáticos, científicos y de medicina a nivel mundial.
Mission:Brain, organización no lucrativa, el Dr. Quiñones-Hinojosa (Director de Neurocirugía de la Clínica Mayo, campus Florida) y el Dr. Michael Lawton (Barrow Neurological Institute), como Presidente y Vice Presidente, para gastos neuroquirúrgicos en México y en el mundo.

Construyamos puentes juntos:

Donar a Mission:BRAIN: https://missionbrain.kindful.com/?campaign=1237665
Mission:brain:
https://www.missionbrain.org/

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