Rare Disease List
**COMPLETE Fabry Disease Klinefelter Syndrome Trisomy 13 (Patau Syndrome) Lynch Syndrome Neurofibromatosis (NF1, NF2)... Read More
**COMPLETE Fabry Disease Klinefelter Syndrome Trisomy 13 (Patau Syndrome) Lynch Syndrome Neurofibromatosis (NF1, NF2)... Read More
In a February 10, 2020 press release about clinical data of pegunigalsidase alfa for the treatment of Fabry disease, Pro... Read More
Fabry disease is an inherited disorder caused by a mutation found on the X chromosome. Inadequate functioning of the lys... Read More
AgeX Therapeutics will collaborate with neurology researchers at the University of California, Irvine, (UCI) to research... Read More
Jessica Bucher
Genetic Counselor, MSGC
Meg Hefner
Genetic Counselor
Timothy Hartshorne
Psychologist and chair of the CHARGE Syndrome Foundation advisory board
Donia Shirley-Douglas
Parent Liaison
Jessica Bucher
Genetic Counselor, MSGC
Oliver Adunka
Otolaryngologist
Lauren Hanrahan
Ambassador for NF2 Bio Solutions
Nicole Henwood
Physician and President & CEO of NF2 Bio Solutions
Melissa Wang
MS Candidate in Genetic Counseling
Bri Dingmann
Genetic Counselor
Virginia E. Kimonis
Clinical Geneticist
Amanda Atkins
Licensed marriage and family therapist
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