About 253 results

ALLMedicine™ Familial Dysautonomia Center

Research & Reviews  94 results

Elp1 is required for development of visceral sensory peripheral and central circuitry.
Disease Models & Mechanisms; Tolman Z, Chaverra M et. al.

Apr 29th, 2022 - Cardiovascular instability and a blunted respiratory drive in hypoxic conditions, are hallmark features of the genetic sensory and autonomic neuropathy, familial dysautonomia (FD). FD results from a mutation in the gene ELP1, whose encoded protein...

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of...
Human Molecular Genetics; Chekuri A, Logan EM et. al.

Dec 16th, 2021 - Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease caused by a splicing mutation in the gene encoding Elongator complex protein 1 (ELP1, also known as IKBKAP). This mutation results in tissue-specific skipping of exon 2...

ATP-citrate lyase promotes axonal transport across species.
Nature Communications; Even A, Morelli G et. al.

Oct 9th, 2021 - Microtubule (MT)-based transport is an evolutionary conserved process finely tuned by posttranslational modifications. Among them, α-tubulin acetylation, primarily catalyzed by a vesicular pool of α-tubulin N-acetyltransferase 1 (Atat1), promotes ...

Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial ...
Nature Communications; Ajiro M, Awaya T et. al.

Jul 25th, 2021 - Approximately half of genetic disease-associated mutations cause aberrant splicing. However, a widely applicable therapeutic strategy to splicing diseases is yet to be developed. Here, we analyze the mechanism whereby IKBKAP-familial dysautonomia ...

Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of...
Osteoporosis International : a Journal Established as Res... Vahidi G, Flook H et. al.

May 27th, 2021 - Familial dysautonomia (FD) is associated with a high prevalence of bone fractures, but the impacts of the disease on bone mass and quality are unclear. The purpose of this study was to evaluate tissue through whole-bone scale bone quality in a mou...

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Clinicaltrials.gov  2 results

The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial Dysautonomia

Jun 2nd, 2016 - Familial dysautonomia (FD) is a rare fatal autosomal recessive disease caused by a deficiency of the protein IKAP.1 This results in a selective developmental defect that affects mostly afferent (sensory) neurons including those in the dorsal root ...

Carbidopa for the Treatment of Nausea and Vomiting in Familial Dysautonomia

Mar 28th, 2016 - Patients with familial dysautonomia (FD), also called Riley Day syndrome or hereditary sensory and autonomic neuropathy type III, suffer recurrent attacks of uncontrollable nausea and vomiting that can last several hours or days and are severely d...

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News  5 results

FDA Awards Research Grants for 18 Rare Diseases, Including HPV-Related Oropharyngeal Cancer

Dec 4th, 2020 - Gayatri R. Rao, MD, JD Eighteen new research grants, totaling more than $19 million, have been awarded by the FDA for product development in rare diseases such as HPV-related head and neck cancer and recurrent glioblastoma, the regulatory agency ...

FDA concern over experimental procedures that use balloon angioplasty devices to treat autonomic dysfunction: FDA safety communication | FDA

Date issued: March 8, 2017 Audiences: Health care providers who manage the care of patients with autonomic dysfunction, including neurologists, interventionalists (radiologists, vascular surgeons, and neurosurgeons), and clinical researchers Peopl...

Tests reveal risk of passing on SCD, other diseases
HT Staff

Jul 24th, 2017 - Photo by Graham Colm Blood samples Quest Diagnostics has announced the US launch of QHerit™, a genetic screening service that helps people of multiple ethnicities identify their risk of passing on heritable disorders to their offspring. The QHerit.

Antiwrinkle Cream Ingredient May Reduce Parkinson's Risk

Aug 22nd, 2013 - Kinetin, a cellular repair molecule found in antiwrinkle creams, might restore enzyme activity related to a protein called PINK1, mutations to which raise the risk for an autosomal-recessive form of early-onset Parkinson's disease (PD), a new stud...

Preimplantation Genetic Diagnosis and Screening

If our patients have Southeast Asian ancestry, we should consider α-thalassemia (1 in 30), and for patients with Mediterranean ancestry, β-thalassemia. For patients of Ashkenazi Jewish ancestry, genetic screening is performed routinely for the anc.

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