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About 283 results

ALLMedicine™ Familial Dysautonomia Center

Research & Reviews  103 results

Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial Dysautonom...
https://doi.org/10.1093/hmg/ddac133
Human Molecular Genetics; Anderson SL, Fasih-Ahmad F et. al.

Jun 17th, 2022 - Recent research on Familial Dysautonomia (FD) has focused on the development of therapeutics that facilitate the production of the correctly spliced, exon 20-containing, transcript in cells and individuals bearing the splice-altering, FD-causing, ...

Elp1 is required for development of visceral sensory peripheral and central circuitry.
https://doi.org/10.1242/dmm.049274
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, the encoded protein of...

Neuropathic-like Pain in Fibrous Dysplasia/McCune-Albright Syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113795
The Journal of Clinical Endocrinology and Metabolism; Spencer TL, Watts L et. al.

Mar 10th, 2022 - Pain is a major symptom in adults with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) and response to current treatments, including bisphosphonates and standard analgesics (nonsteroidal anti-inflammatory drugs and opiates) is unpredictable. N...

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of...
https://doi.org/10.1093/hmg/ddab359
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...

Familial Dysautonomia - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/fd/

Nov 4th, 2021 - Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gast...

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Clinicaltrials.gov  5 results

The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia
https://clinicaltrials.gov/ct2/show/NCT02276716

Feb 21st, 2021 - Familial dysautonomia (FD) is an autosomal recessive disease caused by mutations in the I-B kinase complex associated protein (IKBKAP) gene sequence (Anderson et al., 2001; Slaugenhaupt et al., 2001). The disorder affects the development of sensor...

Telemedicine Clinical Trial for Cognitive Behavioral Therapy in Familial Dysautonomia
https://clinicaltrials.gov/ct2/show/NCT03911063

Apr 28th, 2020 - This is a single-blind, placebo-controlled, telemedicine clinical trial to assess the efficacy of cognitive behavioral therapy (CBT) in adult patients 18 years and older with familial dysautonomia (FD) and anxiety and/or depression and/or obsessiv...

The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia
https://clinicaltrials.gov/ct2/show/NCT02608931

Jun 13th, 2019 - The purpose of this pilot study is to assess the safety, tolerability and efficacy of dronabinol for the treatment of nausea in patients with FD. The pilot trial will recruit 25 patients with FD who complain of severe nausea that affects their qua...

Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.
https://clinicaltrials.gov/ct2/show/NCT01999257

Aug 17th, 2017 - In Montreal, individuals of Ashkenazi Jewish descent are eligible to have carrier screening for three genetic conditions: Tay-Sachs disease, Canavan disease, and familial dysautonomia. The investigators have developed a new website to educate pers...

The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial Dysautonomia
https://clinicaltrials.gov/ct2/show/NCT01987219

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 ...

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News  5 results

FDA Awards Research Grants for 18 Rare Diseases, Including HPV-Related Oropharyngeal Cancer
https://www.onclive.com/view/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
https://www.fda.gov/medical-devices/safety-communications/fda-concern-over-experimental-procedures-use-balloon-angioplasty-devices-treat-autonomic-dysfunction

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
https://www.mdedge.com/hematology-oncology/article/185547/anemia/tests-reveal-risk-passing-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
https://www.medscape.com/viewarticle/809948

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
https://www.mdedge.com/obgyn/article/49127/preimplantation-genetic-diagnosis-and-screening/page/0/1

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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