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Speaker 29. February 2020

Presenter: Raiko Thal

In Berlin and Brandenburg, Raiko Thal can hardly cross the streets without being recognized due to his extensive experience as a TV presenter. Heiko is most known for hosting rbb Television’s most popular program die Abendschau as well as rbb Aktuell and the health-focused weekly program rbb Praxis.

Raiko worked as a presenter for the DFF TV Program elf99, a presenter for the television channel 3sat, and a correspondent for the television network ProSieben. After a short time as a presenter at the TV station ORB, he switched to the TV station SFB. After a merger between those two stations, he started presenting for various programs and magazine shows for rbb Television, which he still does today.

Raiko Thal moderates major events and trade fairs. He continues to work artistically, performing readings and in theatre projects and as a radio play speaker and voice-over artist.

Speaker: Prof. Dr. Arndt Rolfs

Prof. Dr. Arndt Rolfs, founder of CENTOGENE, serves as CEO, bringing in extensive medical and scientific expertise. He received his approbation for human medicine from the Universities of Mainz and Vienna in 1985 and was granted a tenure track to professorship for Clinical Neurology in 1997.

Arndt is a principle investigator of several international multicenter studies in the area of rare diseases, including the Sifap project, the world’s largest study in young stroke patients related to Fabry disease, and actively engaged in biomarker research for several metabolic diseases, including BioHAE, BioGaucher, BioHunter, and BioMorquio. Arndt has an extensive track record in medical and scientific publications, authoring/contributing over 350 peer-reviewed publications.

Speaker: Geraldine Uhlig

Geraldine Uhlig, born in Berlin in 2000, studies Psychology at the Free University of Berlin. Her father, artist Gerald Uhlig, died in 2018 as a result of Morbus Fabry, a rare lysosomal storage disease. He was actively involved in art projects and lectures to promote a broader understanding and awareness of the disease.

Geraldine Uhlig, a carrier of the disease herself, is continuing the educational work of her father, who might still be alive if he had been diagnosed earlier. She is particularly passionate about raising awareness of Fabry symptoms and leading these individuals to helpful sources and informational outlets, sparing them the fate of her father.

Since 2016, Geraldine Uhlig has been working with director David Sieveking to produce a film version of her father's autobiography, Und trotzdem lebe ich: Mein Kampf mit einer rätselhaften Krankheit (And Yet I Live: My Struggle With a Mysterious Disease).

Speaker: Oliver Hülsken

It took twelve years for Lena's parents to learn the reason why their daughter was not developing like other children. Only a coincidence put them on the right track and thus led to the diagnosis of SYNGAP1, a rare disease caused by a genetic defect of chromosome 6.

Oliver Hülsken lives in Kamp-Lintfort, Germany with his wife Claudia and their children Tom, Mia, and Lena as well as the family dog, Leo. He discusses the ups and downs of life with SYNGAP1 and the resulting disability Lena faces on his Facebook blog – "Lena – Aus dem Leben mit unserem ganz speziellen Lottogewinn” (Lena - Life With Our Very Special Lottery Win) – as well as in his book with the same title.

Speaker: Taylor Kane

Taylor Kane is the Founder and President of Remember the Girls, an international non-profit organization which unites, educates, and empowers female carriers of x-linked genetic disorders. Taylor’s activism began as a pre-teen, after her father died from Adrenoleukodystrophy (ALD) and she learned that she was a carrier of the rare disease.

She raised considerable funds for ALD research and successfully lobbied the U.S. New Jersey legislature to enact a law requiring the screening of newborns for ALD, as the therapy is significantly more effective if the disease is diagnosed very early. In 2012, Taylor founded a campaign called Young ALD Carriers to support positive change through advocacy, social media, and the legislative process. She currently serves as a leader of the Young Adult Representatives of the EveryLife Foundation for Rare Diseases, educating young adults with rare diseases to advocate for affordable, safe, and effective treatments and has recently published a memoir, Rare Like Us: From Losing My Dad to Finding Myself in a Family Plagued by Genetic Disease.

Dr. Frank Stehr

Speaker: Dr. Frank Stehr

Dr. Frank Stehr studied Biochemistry and Molecular Biology in Hamburg. He then went on to complete his doctoral thesis in Hamburg and Los Angeles in the field of molecular medicine. After heading the Research Division of the NCL Foundation for 10 years, he assumed the role of CEO, which he has held for six years. The unstoppable course of childhood dementia NCL (Neuronal Ceroid Lipofuscinosis) causes blindness as well as psychological and physical degradation – ultimately leading to death at the age of approx. 30 years. The NCL Foundation, established in 2002, is building a scientific network and is committed to initiating research worldwide. It awards doctoral fellowships and research prizes, advises other non-profit NCL institutions, and educates doctors in order to reduce the rate of misdiagnosis.

Speaker: Dr. Uma Ramaswami, FRCPCH

Uma is a Consultant in Inherited Metabolic Disorders and Clinical Lead for the Lysosomal Disorders Unit at the Royal Free Hospital, London. Uma has a special interest in clinical research relating to the understanding of the natural history and disease progression of inherited metabolic disorders. Uma leads transition services for young patients with inherited metabolic disorders and is the National Clinical Lead for the UK Pediatric Familial Hypercholesterolaemia (FH) Register and Co-Project Lead for the European FH Register. Uma is a Lysosomal Disorders Expert Advisory Group member for NHS England, National Institute of Clinical Excellence (NICE) advisor, Communicating Editor for the Journal of Inherited Metabolic Disorders (JIMD).

Speaker: Dr. Lilian Monteiro-Palma

Dr. Lilian Monteiro-Palma is a staff member in the Pediatric Nephrology department at the State University of Campinas, São Paulo, Brazil, and coordinator of the Pediatric Genetic Nephrology clinic with emphasis on Atypical Hemolytic Uremic Syndrome (aHUS). She is a co-founder of the Brazilian Thrombotic Microangiopathy Study Group.

Speaker: Dr. Alexander Schuth

Alexander Schuth is co-founder and Chief Operation Officer of Denali Therapeutics. Since 2015, Denali has built and advanced a broad portfolio of therapeutic drug candidates for neurodegenerative diseases including several rare neurological indications.

Alex previously held various operational and leadership positions during a 10-year tenure at Genentech and worked in Merrill Lynch’s investment banking group in London. Alex holds an M.D. degree from the Charite Medical School at the Humboldt University of Berlin, Germany, and an M.B.A. from the Wharton School of the University of Pennsylvania.

Images displayed with permission to use by those featured.