Free

2020 International SSADHD Conference

Event Information

Share this event

Date and Time

Location

Location

The Inn At Longwood Medical

342 Longwood Avenue

Boston, MA 02115

View Map

Event description

Description

Conference Overview

Speaker Topics Include:

  • Metabolomic Paradigms for Newborn Screening (Dr. Madalyn Brown)
  • Prevalence/Incidence Estimates of SSADHD (Dr. Sarah Elsea)
  • Outcomes of the SGS-742 Clinical Trial and Next Steps (Dr. William Theodore)
  • SSADHD Natural History Study and Clinical symptom prevalence (Dr. Phillip Pearl and Dr. Melissa DiBacco)
  • Research Opportunities in Rare Neurological Diseases (Dr. Jill Morris)
  • Imaging Compenent of SSADHD Studies (Dr. Simon Warfield and Dr. Onur Afacan)
  • TMS Evidence of Abnormal Innervation in SSADHD (Dr. Alexander Rotenberg/Dr. Melissa Tsuboyama)
  • International Neurotransmitter Disease (iNTD) Registry (Dr. Kathrin Jeltsch)
  • Enzyme Replacement Therapy for SSADHD (Dr. Henry Lee)
  • Dysregulation of Phototransduction Pathway by Vigabatrin (Dana Walters)
  • Development of an InVitro Model of SSADHD Using Patient iPSC-Derived Neurons to Support Unbiased Screening of Novel Therapeutic Approaches to Treatment (Dr. Mustafa Sahin)
  • High affinity γ-hydroxybutyrate (GHB) receptor ligands for SSADHD (Justin Chen)
  • Patient-customized therapy for rare genetic diseases (Dr. Tim Yu)
  • Targeting the GABAA receptor with farnesol as an antiepileptic agent (Christopher Szlenk)
  • Chaperone Therapy for SSADHD (Dr. Ritva Tikkanen)
  • Mutations in the ALDH5A1/Gene Characterized with Overexpression Analyses (Dr. Ana Pop and Dr. Gajja Salomons)
  • In silico ALDH5A1 mutation analysis (Dr. Senthil Natesan)
  • Integration of Clinical and Basic Research for SSADHD: Traversing International Boarders (Dr. Claudio Cinguemani)
  • Engaging Patients and Families in Research: The Power of Social Media, Registries & Fund Raising (Alice McConnell and Carolyn Hoffman)
  • Patient Reported Outcome Measures: Why We Need It for SSADHD (Dr. Mousumi Bose)
  • Sleep and Psychiatric disorders in SSADHD (Dr. Kiran Maski and Dr. Joseph Gonzalez-Heydrich)
  • Understanding SUDEP for SSADHD patients (Dr. Phillip Pearl)
  • SSADHD Panel of Experts Q&A Session

SSADH Overview

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare metabolic disorder characterized by lack of the enzyme involved in the degradation of GABA, the major inhibitory neurotransmitter in the brain. GABA controls the movements of humans, and when it is imbalanced, major neurological abnormalities occur. In SSADH deficiency, neurotransmitters are blocked from signaling one another correctly.

Due to the enzyme deficiency in SSADHD patients, an unusual compound accumulates in the body, namely 4-hydroxybutyric acid (or gammahydroxybutyric acid; GHB). GHB is possibly a neurotransmitter like GABA, or at least at high concentrations it is likely a modulator of neurological activity in humans. GHB accumulation interferes with the patient’s concentration and ability to process information in the brain.

We encourage families, physicians, researchers, policy makers, advocates, and industry all to attend.

  • Network, learn and brainstorm with the leading clinicians and researchers in pediatric neurotransmitter diseases.
  • Engage in thought-provoking dialogue on the newest research advancements.
  • Meaningful patient participation program and patient voice throughout program.
  • Hear best practices from top patient advocates on how to advance your patient organization’s outreach efforts.
  • Meet and interact with those affected with SSADHD.

Hotel Information

The Inn at Longwood Medical

342 Longwood Ave

Boston, MA 02115

Rooms are available at a reduced rate on a first come, first serve basis through June 8, 2020. Please book accommodations through the link below. Booking is under BCH Dept of Neurology Epilepsy Division.

https://be.synxis.com/?Hotel=58219&Chain=65&arrive=7/8/2020&depart=7/10/2020&adult=1&child=0&group=BCHN0720

If you are booking hotel accomodations after June 8th, you will need to contact the hotel directly at 617-731-4700.

Share with friends

Date and Time

Location

The Inn At Longwood Medical

342 Longwood Avenue

Boston, MA 02115

View Map

Save This Event

Event Saved