Patient-Centricity

CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare brain disorder characterised by severe early-onset seizures in the first month of life, intellectual disability, motor and social impairment, and which mainly affects females. Currently, no therapies exist for CDD and only symptomatic pharmacological treatments are available. The use of animal models such as Cdkl5-null mice (mice that lack the CDKL5 gene) have shown to be an invaluable tool to gather insights into the molecular alterations underlining CDD. However, there is an urgent need for minimally invasive (i.e. peripheral fluid analysis e.g. blood plasma) biomarkers of translational value to monitor disease progression. Ulysses Neuroscience strive to address those unmet needs using a multidisciplinary and translational (research from animals to humans and vice versa) approach. We currently have an open line of research into CDD, where our team is engaged in the important task of identifying early biomarkers of disease in order to facilitate preventive treatment.

For more information on our Italian CDKL5 study, click here.

Fragile X Syndrome

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability, caused by heterogeneous mutations of the Fmr1 (Fragile X Messenger Ribonucleoprotein 1), which directs cells to produce the FMRP protein, fundamental for brain development and plasticity. As a result, patients experience a wide range of symptoms including developmental delays, learning disabilities, and social anxiety. The neurodevelopmental disorder FXS is linked to the full mutation (more than >200 CGG nucleotide repeat expansion), while the premutation (55-200 CGG repeat expansion) can lead to various conditions, including ovarian insufficiency in women, Fragile X Primary Ovarian insufficiency (FXPOI), and a Parkinson-like neurodegenerative disorder, Fragile X Tremor Ataxia Syndrome (FXTAS).

Despite the well-known aetiology, currently there is no cure for FXS and related conditions; biomarkers of disease progression are needed to accelerate clinical trials and discovery of new treatments. The Fmr1-knockout mouse model (mice lack FMRP protein) has been a valuable tool in helping to better explain the physiological role of FMR1 while also testing the efficacy of novel pharmacological compounds in alleviating some of the symptoms associated with the syndrome. Ulysses Neuroscience work both for and with FXS patients and Fragile X Premutation Carriers by carrying out patient-centric research with the goal of meeting the needs of patients via a translational approach.

Read more about our study involving Fragile X Premutation Carriers here.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) comprises a group of progressive peripheral neuropathies which affect an estimated 2.6 million people worldwide. It is a spectrum of diseases which can be divided into demyelinating and axonal forms, along with other more complex forms which causes abnormalities and damage to the peripheral nervous system resulting in symptoms such as muscle pain, nerve pain, hand tremors, numbness, as well as curled fingers and toes. CMT diagnosis is dependent on neurophysiological and neurological examination of the patient and there are currently no validated biomarkers to track disease progress or any potential benefits derived from a novel therapy. Ulysses Neuroscience is currently carrying out clinical studies in an attempt to identify fluid-based biomarkers of CMT with the goal of advancing the drug discovery process towards the development of not only effective therapies, but also preventative treatments.

For more information on our Irish CMT study, click here.

For more information on our Italian CMT study, click here.

This is what #ThinkRare means to the Ulysses team

"While having some form of generalisation is important in many cases, I am driven to find the details that get shrugged off, the patterns that are overlooked, the seemingly small elements that can create change. Think rare, for me, is a call to think about the individual, the forgotten, the overlooked and under-researched.”

Carolina De Pasquale

“#ThinkRare is about placing patients and their needs at the forefront of our research, as well as advocating and spreading awareness for patient communities.”

Ciara Connolly

“I believe the #ThinkRare campaign is about amplifying the voices of those suffering from rare diseases and making the search for life-altering treatments a priority.”

Mary Glass

“With over 7,000 rare diseases existing worldwide, the #ThinkRare campaign strives to provide scientific support as well as a voice to those communities who may be small individually, but collectively are large and many.”

Ross Oglesby

“#ThinkRare reminds me that some people live their day-to-day lives with diseases I have never heard of, wishing that their voices could be heard and their needs attended to.”

Olaitan Jibola Jeremiah

“I believe that Thinking Rare gives a voice, shows support and provides hope to people with rare diseases who deserve and require an equal opportunity in the world of disease research.”

Aurelia Dilo

“Collectively, 6% of the population in Ireland have a rare disease and more than 90% of rare diseases still lack an effective treatment. #ThinkRare means striving towards creating better futures for those living with rare diseases.”

Clare McGurk

“In life little things matter to me, tiny details make a difference and can do wonders so RARE is many to me & here at Ulysses we research towards rare diseases, we listen and consider the opinions of our patient community and we give them a voice.”

Disha Disha

“#ThinkRare for me is to  dare to find what is hidden beyond the “common” meaning of things. Dare to think rare is not easy and may fall into the crazy category for many but for me is an exhilarating way to navigate through stereotypes. DARE to #ThinkRare! If you are not willing to risk the unusual, you will have to settle for the ordinary.”

Johana Tello

“#ThinkRare means giving those who have rare diseases an equal opportunity to live a fulfilling life as those who have common diseases and are recognised.”

Temi Owopetu

“To me, think rare is about giving voice to the patients and families who can often be overlooked; to inspire a change in research and clinic to allow everyone an equal opportunity for knowledge, care, and support.”

Aimée Freeburn

Rare Disease Day

Rare Disease Day is a very important day that is held on the last day of February every year to help raise awareness for the over 7,000 rare diseases that impact people worldwide. At Ulysses Neuroscience we help to play our part on Rare Disease Day by raising awareness for rare diseases as well as informing people of the exciting research being conducted.

We strive to have open communication with patients and associations, please do not hesitate to reach out and get in touch!

Ulysses Neuro Podcast

Ulysses Neuro Podcast is about giving voice to members of the public, families and patients facing difficulties with mental health and rare disorders. The team at Ulysses Neuroscience Ltd. will explain the underlying biology and current research, for each specific topic discussed.

This podcast aims to advocate, empower and give a voice to the community.

All of our podcasts can be found on our Spotify.

#ThinkRare Initiative: